Difference between revisions of "B-ALL Tables: Prognostic Genomic Abnormalities and Recurrent Gene Fusions"
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| − | '''Table 1 - Gene fusions reported in Ph-like B-ALL and other new B-ALL molecular subtypes (Literature Review)'''. Table derived from Akkari et al., 2020 [PMID 32302940] with permission from Cancer Genetics. | + | '''Table 1 - Prevalence and prognosis of B-ALL genomic abnormalities in the pediatric and adult population for all categories reported to date.''' Of the Ph-like category, only CRLF2 and ABL1-class rearrangements are indicated. Table derived from Akkari et al., 2020 [PMID 32302940] with permission from Cancer Genetics. All percentages are approximate. |
| + | {| class="wikitable" | ||
| + | | | ||
| + | | colspan="2" |'''Percentage of B-ALL Cases''' | ||
| + | | | ||
| + | |- | ||
| + | |'''Genomic abnormality''' | ||
| + | |'''Pediatric''' | ||
| + | |'''Adult''' | ||
| + | |'''Prognosis''' | ||
| + | |- | ||
| + | |t(12;21)(p13;q22); [[ETV6]]-[[RUNX1]]* | ||
| + | |25% | ||
| + | |3% | ||
| + | |Favorable | ||
| + | |- | ||
| + | |Hyperdiploidy* | ||
| + | |25% | ||
| + | |5-7% | ||
| + | |Favorable | ||
| + | |- | ||
| + | |t(9;22)(q34;q11.2); [[BCR]]-[[ABL1]]* | ||
| + | |2-4% | ||
| + | |25-30% | ||
| + | |Poor (outcome may improve with TKI) | ||
| + | |- | ||
| + | |[[CRLF2]] (PAR1, Xp22.33/Yp11.2) (Ph-like) | ||
| + | |5% | ||
| + | |20% | ||
| + | |Poor | ||
| + | |- | ||
| + | |ABL-Class fusions (Ph-like) | ||
| + | |3-5% | ||
| + | |2-3% | ||
| + | |Poor (outcome may improve with TKI) | ||
| + | |- | ||
| + | |[[KMT2A Partner Genes|KMT2A]] (11q23) rearrangements* | ||
| + | |5% | ||
| + | |10% | ||
| + | |Poor | ||
| + | |- | ||
| + | |t(1;19)(q23;p13.3); [[TCF3]]-[[PBX1]]* | ||
| + | |5% | ||
| + | |3% | ||
| + | |Favorable | ||
| + | |- | ||
| + | |[[TCF3]] (19p13.3) rearrangements (excluding [[ZNF384]]) | ||
| + | |>1% | ||
| + | |>1% | ||
| + | |Extremely Poor | ||
| + | |- | ||
| + | |Hypodiploidy* | ||
| + | |1-2% | ||
| + | |15% | ||
| + | |Poor | ||
| + | |- | ||
| + | |dic(9;12)(p13;p13) | ||
| + | |1% | ||
| + | |Rare | ||
| + | |Favorable | ||
| + | |- | ||
| + | |dic(9:20)(p13;q11) | ||
| + | |2% | ||
| + | |1% | ||
| + | |Favorable | ||
| + | |- | ||
| + | |t(4;14)(q35.2;q32); [[IGH-DUX4|IGH/DUX4]] | ||
| + | |5-9% | ||
| + | |5% | ||
| + | |Favorable | ||
| + | |- | ||
| + | |t(5;14)(q31.1;q32.1); [[IGH]]/[[IL3]]* | ||
| + | |1% | ||
| + | |1% | ||
| + | |Unknown | ||
| + | |- | ||
| + | |[[ZNF384]] (12p13.31) rearrangements | ||
| + | |1-5% | ||
| + | |2-7% | ||
| + | |Favorable | ||
| + | |- | ||
| + | |iAMP21 ([[RUNX1]])* | ||
| + | |2% | ||
| + | |Rare | ||
| + | |Poor | ||
| + | |- | ||
| + | |[[IKZF1]] deletions | ||
| + | |15-20% | ||
| + | |25-30% | ||
| + | |Poor except in combination with ERG del | ||
| + | |} | ||
| + | <nowiki>*</nowiki>indicates 2016 WHO entities including provisional categories. | ||
| + | |||
| + | |||
| + | '''Table 2 - Gene fusions reported in Ph-like B-ALL and other new B-ALL molecular subtypes (Literature Review)'''. Table derived from Akkari et al., 2020 [PMID 32302940] with permission from Cancer Genetics. | ||
{| class="wikitable" | {| class="wikitable" | ||
|'''Subtype''' | |'''Subtype''' | ||
| Line 7: | Line 101: | ||
|'''Gene fusion''' | |'''Gene fusion''' | ||
|'''Visible by G-banding''' | |'''Visible by G-banding''' | ||
| − | |''' | + | |'''References''' |
|'''Comment''' | |'''Comment''' | ||
|- | |- | ||
| Line 13: | Line 107: | ||
'''B-ALL''' | '''B-ALL''' | ||
| − | | rowspan="12" |'''''ABL1''''' (9q34) | + | | rowspan="12" |'''''[[ABL1]]''''' |
| − | |''CENPC1'' | + | (9q34) |
| + | |''[[CENPC1]]'' | ||
|t(4;9)(q13;q34) | |t(4;9)(q13;q34) | ||
|''CENPC1-ABL1'' | |''CENPC1-ABL1'' | ||
|YES | |YES | ||
| − | | | + | |<ref name=":0">{{Cite journal|last=Reshmi|first=Shalini C.|last2=Harvey|first2=Richard C.|last3=Roberts|first3=Kathryn G.|last4=Stonerock|first4=Eileen|last5=Smith|first5=Amy|last6=Jenkins|first6=Heather|last7=Chen|first7=I.-Ming|last8=Valentine|first8=Marc|last9=Liu|first9=Yu|date=2017-06-22|title=Targetable kinase gene fusions in high-risk B-ALL: a study from the Children's Oncology Group|url=https://pubmed.ncbi.nlm.nih.gov/28408464|journal=Blood|volume=129|issue=25|pages=3352–3361|doi=10.1182/blood-2016-12-758979|issn=1528-0020|pmc=5482101|pmid=28408464}}</ref> |
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | |Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | ||
|- | |- | ||
| − | |''ETV6'' | + | |''[[ETV6]]'' |
|t(9;12)(q34;p13) | |t(9;12)(q34;p13) | ||
|''ETV6-ABL1'' | |''ETV6-ABL1'' | ||
|NO | |NO | ||
| − | | | + | |<ref>{{Cite journal|last=Zaliova|first=Marketa|last2=Moorman|first2=Anthony V.|last3=Cazzaniga|first3=Giovanni|last4=Stanulla|first4=Martin|last5=Harvey|first5=Richard C.|last6=Roberts|first6=Kathryn G.|last7=Heatley|first7=Sue L.|last8=Loh|first8=Mignon L.|last9=Konopleva|first9=Marina|date=2016-09|title=Characterization of leukemias with ETV6-ABL1 fusion|url=https://pubmed.ncbi.nlm.nih.gov/27229714|journal=Haematologica|volume=101|issue=9|pages=1082–1093|doi=10.3324/haematol.2016.144345|issn=1592-8721|pmc=5060025|pmid=27229714}}</ref> |
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | |Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | ||
|- | |- | ||
| − | |''FOXP1'' | + | |''[[FOXP1]]'' |
|t(3;9)(p13;q34) | |t(3;9)(p13;q34) | ||
|''FOXP1-ABL1'' on der(3) | |''FOXP1-ABL1'' on der(3) | ||
|YES | |YES | ||
| − | | | + | |<ref>{{Cite journal|last=Ernst|first=Thomas|last2=Score|first2=Joannah|last3=Deininger|first3=Michael|last4=Hidalgo-Curtis|first4=Claire|last5=Lackie|first5=Peter|last6=Ershler|first6=William B.|last7=Goldman|first7=John M.|last8=Cross|first8=Nicholas C. P.|last9=Grand|first9=Francish|date=2011-04|title=Identification of FOXP1 and SNX2 as novel ABL1 fusion partners in acute lymphoblastic leukaemia|url=https://pubmed.ncbi.nlm.nih.gov/21391972|journal=British Journal of Haematology|volume=153|issue=1|pages=43–46|doi=10.1111/j.1365-2141.2010.08457.x|issn=1365-2141|pmid=21391972}}</ref> |
| | | | ||
|- | |- | ||
| − | |''LSM14A'' | + | |''[[LSM14A]]'' |
|t(9;19)(q34;q13.1) | |t(9;19)(q34;q13.1) | ||
|''LSM14A-ABL1'' on der(19) | |''LSM14A-ABL1'' on der(19) | ||
|YES | |YES | ||
| − | | | + | |<ref name=":0" /> |
| | | | ||
|- | |- | ||
| − | |''NUP153'' | + | |''[[NUP153]]'' |
|t(6;9)(p22.3;q34) | |t(6;9)(p22.3;q34) | ||
|''NUP153-ABL1'' on der(6) | |''NUP153-ABL1'' on der(6) | ||
|YES | |YES | ||
| − | | | + | |<ref name=":0" /> |
| | | | ||
|- | |- | ||
| − | |''NUP214'' | + | |''[[NUP214]]'' |
|dup(9)(q34.1q34.1) | |dup(9)(q34.1q34.1) | ||
|''NUP214-ABL1'' | |''NUP214-ABL1'' | ||
|NO | |NO | ||
| − | | | + | |<ref>{{Cite journal|last=Duployez|first=Nicolas|last2=Grzych|first2=Guillaume|last3=Ducourneau|first3=Benoît|last4=Alarcon Fuentes|first4=Martin|last5=Grardel|first5=Nathalie|last6=Boyer|first6=Thomas|last7=Abou Chahla|first7=Wadih|last8=Bruno|first8=Bénédicte|last9=Nelken|first9=Brigitte|date=2016-04|title=NUP214-ABL1 fusion defines a rare subtype of B-cell precursor acute lymphoblastic leukemia that could benefit from tyrosine kinase inhibitors|url=https://pubmed.ncbi.nlm.nih.gov/26681761|journal=Haematologica|volume=101|issue=4|pages=e133–134|doi=10.3324/haematol.2015.136499|issn=1592-8721|pmc=5004396|pmid=26681761}}</ref> |
|Tandem duplication (~370 kb) detectable by CMA | |Tandem duplication (~370 kb) detectable by CMA | ||
|- | |- | ||
| − | |''RANBP2'' | + | |''[[RANBP2]]'' |
|t(2;9)(q12.3;q34) | |t(2;9)(q12.3;q34) | ||
|''RANBP-ABL1'' on der(2) | |''RANBP-ABL1'' on der(2) | ||
|YES | |YES | ||
| − | | | + | |<ref name=":1">{{Cite journal|last=Roberts|first=Kathryn G.|last2=Li|first2=Yongjin|last3=Payne-Turner|first3=Debbie|last4=Harvey|first4=Richard C.|last5=Yang|first5=Yung-Li|last6=Pei|first6=Deqing|last7=McCastlain|first7=Kelly|last8=Ding|first8=Li|last9=Lu|first9=Charles|date=2014-09-11|title=Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/25207766|journal=The New England Journal of Medicine|volume=371|issue=11|pages=1005–1015|doi=10.1056/NEJMoa1403088|issn=1533-4406|pmc=4191900|pmid=25207766}}</ref> |
| | | | ||
|- | |- | ||
| − | |''RCSD1'' | + | |''[[RCSD1]]'' |
|t(1;9)(q24.2;q34) | |t(1;9)(q24.2;q34) | ||
|''RCSD1-ABL1'' on der(1) | |''RCSD1-ABL1'' on der(1) | ||
|YES | |YES | ||
| − | | | + | |<ref>{{Cite journal|last=Collette|first=Y.|last2=Prébet|first2=T.|last3=Goubard|first3=A.|last4=Adélaïde|first4=J.|last5=Castellano|first5=R.|last6=Carbuccia|first6=N.|last7=Garnier|first7=S.|last8=Guille|first8=A.|last9=Arnoulet|first9=C.|date=2015-03-13|title=Drug response profiling can predict response to ponatinib in a patient with t(1;9)(q24;q34)-associated B-cell acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/25768406|journal=Blood Cancer Journal|volume=5|pages=e292|doi=10.1038/bcj.2015.13|issn=2044-5385|pmc=4382656|pmid=25768406}}</ref> |
| | | | ||
|- | |- | ||
| − | |''SFPQ'' | + | |''[[SFPQ]]'' |
|t(1;9)(p34.3;q34) | |t(1;9)(p34.3;q34) | ||
|''SFPQ-ABL1'' on der(1) | |''SFPQ-ABL1'' on der(1) | ||
|YES | |YES | ||
| − | | | + | |<ref>{{Cite journal|last=Sheng|first=Guangying|last2=Zeng|first2=Zhao|last3=Pan|first3=Jinlan|last4=Wang|first4=Qinrong|last5=Yao|first5=Hong|last6=Wen|first6=Lijun|last7=Ma|first7=Liang|last8=Wu|first8=Depei|last9=Chen|first9=Suning|date=2017|title=t(1;9)(p34;q34)/SFPQ-ABL1 Fusion in a Patient with Ph-Like Common B-Cell Acute Lymphoblastic Leukemia|url=https://pubmed.ncbi.nlm.nih.gov/27894117|journal=Acta Haematologica|volume=137|issue=1|pages=40–43|doi=10.1159/000452265|issn=1421-9662|pmid=27894117}}</ref> |
| | | | ||
|- | |- | ||
| − | |''SNX1'' | + | |''[[SNX1]]'' |
|t(9;15)(q34;q22.3) | |t(9;15)(q34;q22.3) | ||
|''SNX1-ABL1'' on der(15) | |''SNX1-ABL1'' on der(15) | ||
|YES | |YES | ||
| − | | | + | |<ref name=":2">{{Cite journal|last=Tasian|first=Sarah K.|last2=Loh|first2=Mignon L.|last3=Hunger|first3=Stephen P.|date=2017-11-09|title=Philadelphia chromosome-like acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/28972016|journal=Blood|volume=130|issue=19|pages=2064–2072|doi=10.1182/blood-2017-06-743252|issn=1528-0020|pmc=5680607|pmid=28972016}}</ref> |
| | | | ||
|- | |- | ||
| − | |''SNX2'' | + | |''[[SNX2]]'' |
|t(5;9)(q23.2;q34) | |t(5;9)(q23.2;q34) | ||
|''SNX2-ABL1'' on der(5) | |''SNX2-ABL1'' on der(5) | ||
|YES | |YES | ||
| − | | | + | |<ref>{{Cite journal|last=Tomita|first=Osamu|last2=Iijima|first2=Kazutoshi|last3=Ishibashi|first3=Takeshi|last4=Osumi|first4=Tomoo|last5=Kobayashi|first5=Kenichiro|last6=Okita|first6=Hajime|last7=Saito|first7=Masahiro|last8=Mori|first8=Tetsuya|last9=Shimizu|first9=Toshiaki|date=2014-03|title=Sensitivity of SNX2-ABL1 toward tyrosine kinase inhibitors distinct from that of BCR-ABL1|url=https://pubmed.ncbi.nlm.nih.gov/24367893|journal=Leukemia Research|volume=38|issue=3|pages=361–370|doi=10.1016/j.leukres.2013.11.017|issn=1873-5835|pmid=24367893}}</ref> |
| | | | ||
|- | |- | ||
| − | |''ZMIZ1'' | + | |''[[ZMIZ1]]'' |
|t(9;10)(q34;q22.3) | |t(9;10)(q34;q22.3) | ||
|''ZMIZ1-ABL1'' on der(10) | |''ZMIZ1-ABL1'' on der(10) | ||
|YES | |YES | ||
| − | | | + | |<ref>{{Cite journal|last=Soler|first=G.|last2=Radford-Weiss|first2=I.|last3=Ben-Abdelali|first3=R.|last4=Mahlaoui|first4=N.|last5=Ponceau|first5=J. F.|last6=Macintyre|first6=E. A.|last7=Vekemans|first7=M.|last8=Bernard|first8=O. A.|last9=Romana|first9=S. P.|date=2008-06|title=Fusion of ZMIZ1 to ABL1 in a B-cell acute lymphoblastic leukaemia with a t(9;10)(q34;q22.3) translocation|url=https://pubmed.ncbi.nlm.nih.gov/18007576|journal=Leukemia|volume=22|issue=6|pages=1278–1280|doi=10.1038/sj.leu.2405033|issn=1476-5551|pmid=18007576}}</ref> |
| | | | ||
|- | |- | ||
| − | | rowspan="3" |'''''ABL2''''' (1q25.2) | + | | rowspan="3" |'''''[[ABL2]]''''' |
| − | |''PAG1'' | + | (1q25.2) |
| + | |''[[PAG1]]'' | ||
|t(1;8)(q25.2;q21.1) | |t(1;8)(q25.2;q21.1) | ||
|''PAG1-ABL2'' on der(1) | |''PAG1-ABL2'' on der(1) | ||
|YES | |YES | ||
| − | | | + | |<ref name=":1" /> |
| | | | ||
|- | |- | ||
| − | |''RCSD1'' | + | |''[[RCSD1]]'' |
|1q24.2q25.2 rearrangement | |1q24.2q25.2 rearrangement | ||
|''RCSD1-ABL2'' | |''RCSD1-ABL2'' | ||
|NO | |NO | ||
| − | | | + | |<ref>{{Cite journal|last=Raca|first=Gordana|last2=Gurbuxani|first2=Sandeep|last3=Zhang|first3=Zhiyu|last4=Li|first4=Zejuan|last5=Sukhanova|first5=Madina|last6=McNeer|first6=Jennifer|last7=Stock|first7=Wendy|date=2015-04|title=RCSD1-ABL2 fusion resulting from a complex chromosomal rearrangement in high-risk B-cell acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/25098428|journal=Leukemia & Lymphoma|volume=56|issue=4|pages=1145–1147|doi=10.3109/10428194.2014.951851|issn=1029-2403|pmid=25098428}}</ref> |
|On the same chromosome arm; however, a simple deletion cannot cause the fusion due to the orientation of genes | |On the same chromosome arm; however, a simple deletion cannot cause the fusion due to the orientation of genes | ||
|- | |- | ||
| − | |''ZC3HAV1'' | + | |''[[ZC3HAV1]]'' |
|t(1;7)(q25.2;q34) | |t(1;7)(q25.2;q34) | ||
|''ZC3HAV1-ABL2'' on der(1) | |''ZC3HAV1-ABL2'' on der(1) | ||
|YES | |YES | ||
| − | | | + | |<ref>{{Cite journal|last=Tran|first=Thai Hoa|last2=Harris|first2=Marian H.|last3=Nguyen|first3=Jonathan V.|last4=Blonquist|first4=Traci M.|last5=Stevenson|first5=Kristen E.|last6=Stonerock|first6=Eileen|last7=Asselin|first7=Barbara L.|last8=Athale|first8=Uma H.|last9=Clavell|first9=Luis A.|date=2018-03-13|title=Prognostic impact of kinase-activating fusions and IKZF1 deletions in pediatric high-risk B-lineage acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/29507076|journal=Blood Advances|volume=2|issue=5|pages=529–533|doi=10.1182/bloodadvances.2017014704|issn=2473-9537|pmc=5851421|pmid=29507076}}</ref> |
| | | | ||
|- | |- | ||
| − | | rowspan="2" |'''''CRLF2''''' | + | | rowspan="2" |'''''[[CRLF2]]''''' |
(Xp22.3 & Yp11.3) | (Xp22.3 & Yp11.3) | ||
| − | |''IGH'' | + | |''[[IGH]]'' |
|t(X;14)(p22.3;q32) or | |t(X;14)(p22.3;q32) or | ||
| Line 129: | Line 225: | ||
|''IGH/CRLF2'' | |''IGH/CRLF2'' | ||
|NO | |NO | ||
| − | | | + | |<ref name=":3">{{Cite journal|last=Jain|first=Nitin|last2=Roberts|first2=Kathryn G.|last3=Jabbour|first3=Elias|last4=Patel|first4=Keyur|last5=Eterovic|first5=Agda Karina|last6=Chen|first6=Ken|last7=Zweidler-McKay|first7=Patrick|last8=Lu|first8=Xinyan|last9=Fawcett|first9=Gloria|date=2017-02-02|title=Ph-like acute lymphoblastic leukemia: a high-risk subtype in adults|url=https://pubmed.ncbi.nlm.nih.gov/27919910|journal=Blood|volume=129|issue=5|pages=572–581|doi=10.1182/blood-2016-07-726588|issn=1528-0020|pmc=5290985|pmid=27919910}}</ref> <ref name=":1" /> |
| | | | ||
|- | |- | ||
| − | |''P2RY8'' | + | |''[[P2RY8]]'' |
|del(X)(p22.3p22.3) or del(Y)(p11.3p11.3) | |del(X)(p22.3p22.3) or del(Y)(p11.3p11.3) | ||
|''P2RY8-CRLF2'' | |''P2RY8-CRLF2'' | ||
|NO | |NO | ||
| − | | | + | |<ref name=":3" /> <ref name=":1" /> |
| | | | ||
|- | |- | ||
| − | | rowspan="3" |'''''CSF1R''''' (5q32) | + | | rowspan="3" |'''''[[CSF1R]]''''' |
| − | |''MEF2D'' | + | (5q32) |
| + | |''[[MEF2D]]'' | ||
|t(1;5)(q22;q32) | |t(1;5)(q22;q32) | ||
|''MEF2D-CSF1R'' on der(5) | |''MEF2D-CSF1R'' on der(5) | ||
|YES | |YES | ||
| − | | | + | |<ref name=":4">{{Cite journal|last=Gu|first=Zhaohui|last2=Churchman|first2=Michelle|last3=Roberts|first3=Kathryn|last4=Li|first4=Yongjin|last5=Liu|first5=Yu|last6=Harvey|first6=Richard C.|last7=McCastlain|first7=Kelly|last8=Reshmi|first8=Shalini C.|last9=Payne-Turner|first9=Debbie|date=2016-11-08|title=Genomic analyses identify recurrent MEF2D fusions in acute lymphoblastic leukaemia|url=https://pubmed.ncbi.nlm.nih.gov/27824051|journal=Nature Communications|volume=7|pages=13331|doi=10.1038/ncomms13331|issn=2041-1723|pmc=5105166|pmid=27824051}}</ref> |
| | | | ||
|- | |- | ||
| − | |''SSBP2'' | + | |''[[SSBP2]]'' |
|5q14.1q32 rearrangement | |5q14.1q32 rearrangement | ||
|''SSBP2-CSF1R'' | |''SSBP2-CSF1R'' | ||
|YES | |YES | ||
| − | | | + | |<ref name=":0" /> |
|On the same chromosome arm; however, a simple deletion cannot cause the fusion due to the orientation of genes | |On the same chromosome arm; however, a simple deletion cannot cause the fusion due to the orientation of genes | ||
|- | |- | ||
| − | |''TBL1XR1'' | + | |''[[TBL1XR1]]'' |
|t(3;5)(q26.3;q32) | |t(3;5)(q26.3;q32) | ||
|''TBL1XR1-CSF1R'' on der(5) | |''TBL1XR1-CSF1R'' on der(5) | ||
|YES | |YES | ||
| − | | | + | |<ref name=":0" /> |
| | | | ||
|- | |- | ||
| − | |'''''DGKH''''' (13q14.1) | + | |'''''[[DGKH]]''''' (13q14.1) |
| − | |''ZFAND3'' | + | |''[[ZFAND3]]'' |
|t(6;13)(p21.2;q14.1) | |t(6;13)(p21.2;q14.1) | ||
|''ZFAND3-DGKH'' | |''ZFAND3-DGKH'' | ||
|YES | |YES | ||
| − | | | + | |<ref name=":1" /> |
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | |Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | ||
|- | |- | ||
| − | | rowspan="4" |'''''EPOR''''' (19p13.2) | + | | rowspan="4" |'''''[[EPOR]]''''' (19p13.2) |
| − | |''IGH'' | + | |''[[IGH]]'' |
|ins(14;19)(q32;p13.2p13.2) | |ins(14;19)(q32;p13.2p13.2) | ||
|''IGH/EPOR'' | |''IGH/EPOR'' | ||
|Cryptic insertion | |Cryptic insertion | ||
| − | | | + | |<ref name=":5">{{Cite journal|last=Iacobucci|first=Ilaria|last2=Li|first2=Yongjin|last3=Roberts|first3=Kathryn G.|last4=Dobson|first4=Stephanie M.|last5=Kim|first5=Jaeseung C.|last6=Payne-Turner|first6=Debbie|last7=Harvey|first7=Richard C.|last8=Valentine|first8=Marcus|last9=McCastlain|first9=Kelly|date=2016-02-08|title=Truncating Erythropoietin Receptor Rearrangements in Acute Lymphoblastic Leukemia|url=https://pubmed.ncbi.nlm.nih.gov/26859458|journal=Cancer Cell|volume=29|issue=2|pages=186–200|doi=10.1016/j.ccell.2015.12.013|issn=1878-3686|pmc=4750652|pmid=26859458}}</ref> |
| | | | ||
|- | |- | ||
| − | |''IGK'' | + | |''[[IGK]]'' |
|ins(2;19)(p11.2;p13.2p13.2) | |ins(2;19)(p11.2;p13.2p13.2) | ||
|''IGK/EPOR'' | |''IGK/EPOR'' | ||
|Cryptic insertion | |Cryptic insertion | ||
| − | | | + | |<ref name=":5" /> |
| | | | ||
|- | |- | ||
| − | |''LAIR1'' | + | |''[[LAIR1]]'' |
|inv(19)(p13.2q13.42) | |inv(19)(p13.2q13.42) | ||
|''LAIR1-EPOR'' | |''LAIR1-EPOR'' | ||
|NO | |NO | ||
| − | | | + | |<ref name=":5" /> |
|Inversion of chromosome 19 juxtaposes ''EPOR'' to the upstream region of ''LAIR1'' | |Inversion of chromosome 19 juxtaposes ''EPOR'' to the upstream region of ''LAIR1'' | ||
|- | |- | ||
| − | |''THADA'' | + | |''[[THADA]]'' |
|t(2;19)(p21;p13.2) | |t(2;19)(p21;p13.2) | ||
|''THADA-EPOR'' | |''THADA-EPOR'' | ||
|YES | |YES | ||
| − | | | + | |<ref name=":2" /> |
| | | | ||
|- | |- | ||
| − | |'''''IL2RB''''' (22q12.3) | + | |'''''[[IL2RB]]''''' (22q12.3) |
| − | |''MYH9'' | + | |''[[MYH9]]'' |
|22q12.3 rearrangement | |22q12.3 rearrangement | ||
|''MYH9-IL2RB'' | |''MYH9-IL2RB'' | ||
|NO | |NO | ||
| − | | | + | |<ref name=":1" /> |
|On the same chromosome arm; however, a simple deletion cannot cause the fusion due to the orientation of genes | |On the same chromosome arm; however, a simple deletion cannot cause the fusion due to the orientation of genes | ||
|- | |- | ||
| − | | rowspan="22" |'''''JAK2''''' (9p24.1) | + | | rowspan="22" |'''''[[JAK2]]''''' |
| + | (9p24.1) | ||
| − | |''ATF7IP'' | + | |''[[ATF7IP]]'' |
|t(9;12)(p24.1;p13.1) | |t(9;12)(p24.1;p13.1) | ||
|''ATF7IP-JAK2'' on der(9) | |''ATF7IP-JAK2'' on der(9) | ||
|NO | |NO | ||
| − | | | + | |<ref name=":1" /> <ref>{{Cite journal|last=Zhang|first=Qi|last2=Shi|first2=Ce|last3=Han|first3=Lina|last4=Jain|first4=Nitin|last5=Roberts|first5=Kathryn G.|last6=Ma|first6=Helen|last7=Cai|first7=Tianyu|last8=Cavazos|first8=Antonio|last9=Tabe|first9=Yoko|date=2018-01-30|title=Inhibition of mTORC1/C2 signaling improves anti-leukemia efficacy of JAK/STAT blockade in CRLF2 rearranged and/or JAK driven Philadelphia chromosome-like acute B-cell lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/29487712|journal=Oncotarget|volume=9|issue=8|pages=8027–8041|doi=10.18632/oncotarget.24261|issn=1949-2553|pmc=5814279|pmid=29487712}}</ref> |
| | | | ||
|- | |- | ||
| − | |''BCR'' | + | |''[[BCR]]'' |
|t(9;22)(p24.1;q11.2) | |t(9;22)(p24.1;q11.2) | ||
|''BCR-JAK2'' | |''BCR-JAK2'' | ||
|? YES | |? YES | ||
| − | | | + | |<ref>{{Cite journal|last=Griesinger|first=Frank|last2=Hennig|first2=Heike|last3=Hillmer|first3=Frauke|last4=Podleschny|first4=Martina|last5=Steffens|first5=Rainer|last6=Pies|first6=Andreas|last7=Wörmann|first7=Bernhard|last8=Haase|first8=Detlef|last9=Bohlander|first9=Stefan K.|date=2005-11|title=A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11.2) translocation in a patient with a clinically typical chronic myeloid leukemia|url=https://pubmed.ncbi.nlm.nih.gov/16001431|journal=Genes, Chromosomes & Cancer|volume=44|issue=3|pages=329–333|doi=10.1002/gcc.20235|issn=1045-2257|pmid=16001431}}</ref> |
|Seen also in myeloproliferative neoplasms. Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | |Seen also in myeloproliferative neoplasms. Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | ||
|- | |- | ||
| − | |''EBF1'' | + | |''[[EBF1]]'' |
|t(5;9)(q33.3;p24.1) | |t(5;9)(q33.3;p24.1) | ||
|''EBF1-JAK2'' on der(9) | |''EBF1-JAK2'' on der(9) | ||
|NO (SUBTLE) | |NO (SUBTLE) | ||
| − | | | + | |<ref name=":6">{{Cite journal|last=Roberts|first=Kathryn G.|last2=Yang|first2=Yung-Li|last3=Payne-Turner|first3=Debbie|last4=Lin|first4=Wenwei|last5=Files|first5=Jacob K.|last6=Dickerson|first6=Kirsten|last7=Gu|first7=Zhaohui|last8=Taunton|first8=Jack|last9=Janke|first9=Laura J.|date=2017-09-12|title=Oncogenic role and therapeutic targeting of ABL-class and JAK-STAT activating kinase alterations in Ph-like ALL|url=https://pubmed.ncbi.nlm.nih.gov/29296813|journal=Blood Advances|volume=1|issue=20|pages=1657–1671|doi=10.1182/bloodadvances.2017011296|issn=2473-9529|pmc=5728345|pmid=29296813}}</ref> |
| | | | ||
|- | |- | ||
| − | |''ETV6'' | + | |''[[ETV6]]'' |
|t(9;12)(p24.1;p13.2) | |t(9;12)(p24.1;p13.2) | ||
|''ETV6-JAK2'' on der(9) | |''ETV6-JAK2'' on der(9) | ||
|NO (SUBTLE) | |NO (SUBTLE) | ||
| − | | | + | |<ref>{{Cite journal|last=Zhou|first=Min-hang|last2=Gao|first2=Li|last3=Jing|first3=Yu|last4=Xu|first4=Yuan-yuan|last5=Ding|first5=Yi|last6=Wang|first6=Nan|last7=Wang|first7=Wei|last8=Li|first8=Mian-yang|last9=Han|first9=Xiao-ping|date=2012-08|title=Detection of ETV6 gene rearrangements in adult acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/22373549|journal=Annals of Hematology|volume=91|issue=8|pages=1235–1243|doi=10.1007/s00277-012-1431-4|issn=1432-0584|pmid=22373549}}</ref><ref>{{Cite journal|last=Schwaller|first=Jurg|date=2012-12|title=Modeling ETV6-JAK2-induced leukemia: insights from the zebrafish|url=https://pubmed.ncbi.nlm.nih.gov/23204479|journal=Haematologica|volume=97|issue=12|pages=1783–1785|doi=10.3324/haematol.2012.080754|issn=1592-8721|pmc=3590083|pmid=23204479}}</ref> |
| − | |||
| − | |||
| | | | ||
|- | |- | ||
| − | |''GOLGA5'' | + | |''[[GOLGA5]]'' |
|t(9;14)(p24.1;q32.1) | |t(9;14)(p24.1;q32.1) | ||
|''GOLGA5-JAK2'' | |''GOLGA5-JAK2'' | ||
|NO (SUBTLE) | |NO (SUBTLE) | ||
| − | | | + | |<ref>{{Cite journal|last=Ding|first=Yang Y.|last2=Stern|first2=Julie W.|last3=Jubelirer|first3=Tracey F.|last4=Wertheim|first4=Gerald B.|last5=Lin|first5=Fumin|last6=Chang|first6=Fengqi|last7=Gu|first7=Zhaohui|last8=Mullighan|first8=Charles G.|last9=Li|first9=Yong|date=2018-09|title=Clinical efficacy of ruxolitinib and chemotherapy in a child with Philadelphia chromosome-like acute lymphoblastic leukemia with GOLGA5-JAK2 fusion and induction failure|url=https://pubmed.ncbi.nlm.nih.gov/29773603|journal=Haematologica|volume=103|issue=9|pages=e427–e431|doi=10.3324/haematol.2018.192088|issn=1592-8721|pmc=6119161|pmid=29773603}}</ref> |
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | |Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | ||
|- | |- | ||
| − | |''HMBOX1'' | + | |''[[HMBOX1]]'' |
|t(8;9)(p21.1;p24.1) | |t(8;9)(p21.1;p24.1) | ||
|''HMBOX1-JAK2'' on der(9) | |''HMBOX1-JAK2'' on der(9) | ||
|YES | |YES | ||
| − | | | + | |<ref name=":7">{{Cite journal|last=Roberts|first=Kathryn G.|last2=Gu|first2=Zhaohui|last3=Payne-Turner|first3=Debbie|last4=McCastlain|first4=Kelly|last5=Harvey|first5=Richard C.|last6=Chen|first6=I.-Ming|last7=Pei|first7=Deqing|last8=Iacobucci|first8=Ilaria|last9=Valentine|first9=Marcus|date=2017-02|title=High Frequency and Poor Outcome of Philadelphia Chromosome-Like Acute Lymphoblastic Leukemia in Adults|url=https://pubmed.ncbi.nlm.nih.gov/27870571|journal=Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology|volume=35|issue=4|pages=394–401|doi=10.1200/JCO.2016.69.0073|issn=1527-7755|pmc=5455698|pmid=27870571}}</ref> |
| | | | ||
|- | |- | ||
| − | |''OFD1'' | + | |''[[OFD1]]'' |
|t(X;9)(p22.2;p24.1) | |t(X;9)(p22.2;p24.1) | ||
|''OFD1-JAK2'' on der(9) | |''OFD1-JAK2'' on der(9) | ||
|NO (SUBTLE) | |NO (SUBTLE) | ||
| − | | | + | |<ref>{{Cite journal|last=Yano|first=Mio|last2=Imamura|first2=Toshihiko|last3=Asai|first3=Daisuke|last4=Kiyokawa|first4=Nobutaka|last5=Nakabayashi|first5=Kazuhiko|last6=Matsumoto|first6=Kenji|last7=Deguchi|first7=Takao|last8=Hashii|first8=Yoshiko|last9=Honda|first9=Yu-ko|date=2015-12|title=Identification of novel kinase fusion transcripts in paediatric B cell precursor acute lymphoblastic leukaemia with IKZF1 deletion|url=https://pubmed.ncbi.nlm.nih.gov/26404892|journal=British Journal of Haematology|volume=171|issue=5|pages=813–817|doi=10.1111/bjh.13757|issn=1365-2141|pmid=26404892}}</ref> |
| | | | ||
|- | |- | ||
| − | |''PAX5'' | + | |''[[PAX5]]'' |
|inv(9)(p13.2p24.1) | |inv(9)(p13.2p24.1) | ||
|''PAX5-JAK2'' | |''PAX5-JAK2'' | ||
|YES | |YES | ||
| − | | | + | |<ref>{{Cite journal|last=Schinnerl|first=Dagmar|last2=Fortschegger|first2=Klaus|last3=Kauer|first3=Maximilian|last4=Marchante|first4=João R. M.|last5=Kofler|first5=Reinhard|last6=Den Boer|first6=Monique L.|last7=Strehl|first7=Sabine|date=2015-02-19|title=The role of the Janus-faced transcription factor PAX5-JAK2 in acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/25515960|journal=Blood|volume=125|issue=8|pages=1282–1291|doi=10.1182/blood-2014-04-570960|issn=1528-0020|pmc=4375719|pmid=25515960}}</ref> |
|An inversion is required as genes are oriented in opposite directions | |An inversion is required as genes are oriented in opposite directions | ||
|- | |- | ||
| − | |''PCM1'' | + | |''[[PCM1]]'' |
|t(8;9)(p22;p24.1) | |t(8;9)(p22;p24.1) | ||
|''PCM1-JAK2'' on der(9) | |''PCM1-JAK2'' on der(9) | ||
|YES (SUBTLE) | |YES (SUBTLE) | ||
| − | | | + | |<ref name=":2" /> |
|Seen also in myeloid/lymphoid neoplasms with eosinophilia | |Seen also in myeloid/lymphoid neoplasms with eosinophilia | ||
|- | |- | ||
| − | |''PPFIBP1'' | + | |''[[PPFIBP1]]'' |
|t(9;12)(p24.1;p11.2) | |t(9;12)(p24.1;p11.2) | ||
|''PPFIBP1-JAK2'' on der(9) | |''PPFIBP1-JAK2'' on der(9) | ||
|YES | |YES | ||
| − | | | + | |<ref name=":2" /> |
| | | | ||
|- | |- | ||
| − | |''RFX3'' | + | |''[[RFX3]]'' |
|inv(9)(p24.1p24.2) | |inv(9)(p24.1p24.2) | ||
|''RFX3-JAK2'' | |''RFX3-JAK2'' | ||
|NO | |NO | ||
| − | | | + | |<ref name=":0" /> |
|An inversion is required as genes are oriented in opposite directions | |An inversion is required as genes are oriented in opposite directions | ||
|- | |- | ||
| − | |''SMU1'' | + | |''[[SMU1]]'' |
|inv(9)(p21.1p24.1) | |inv(9)(p21.1p24.1) | ||
|''SMU1-JAK2'' | |''SMU1-JAK2'' | ||
|NO | |NO | ||
| − | | | + | |<ref name=":7" /> |
|An inversion is required as genes are oriented in opposite directions | |An inversion is required as genes are oriented in opposite directions | ||
|- | |- | ||
| − | |''SNX29'' | + | |''[[SNX29]]'' |
|t(9;16)(p24.1;p13.1) | |t(9;16)(p24.1;p13.1) | ||
|''SNX29-JAK2'' on der(9) | |''SNX29-JAK2'' on der(9) | ||
|YES | |YES | ||
| − | | | + | |<ref name=":7" /> |
| | | | ||
|- | |- | ||
| − | |''SPAG9'' | + | |''[[SPAG9]]'' |
|t(9;17)(p24.1;q21.3) | |t(9;17)(p24.1;q21.3) | ||
|''SPAG9-JAK2'' on der(9) | |''SPAG9-JAK2'' on der(9) | ||
|YES | |YES | ||
| − | | | + | |<ref>{{Cite journal|last=Kawamura|first=Machiko|last2=Taki|first2=Tomohiko|last3=Kaku|first3=Hidefumi|last4=Ohki|first4=Kentaro|last5=Hayashi|first5=Yasuhide|date=2015-07|title=Identification of SPAG9 as a novel JAK2 fusion partner gene in pediatric acute lymphoblastic leukemia with t(9;17)(p24;q21)|url=https://pubmed.ncbi.nlm.nih.gov/25951811|journal=Genes, Chromosomes & Cancer|volume=54|issue=7|pages=401–408|doi=10.1002/gcc.22251|issn=1098-2264|pmid=25951811}}</ref> |
| | | | ||
|- | |- | ||
| − | |''SSBP2'' | + | |''[[SSBP2]]'' |
|t(5;9)(q14.1;p24.1) | |t(5;9)(q14.1;p24.1) | ||
|''SSBP2-JAK2'' on der(9) | |''SSBP2-JAK2'' on der(9) | ||
|YES | |YES | ||
| − | | | + | |<ref>{{Cite journal|last=Poitras|first=Jennifer L.|last2=Dal Cin|first2=Paola|last3=Aster|first3=Jon C.|last4=Deangelo|first4=Daniel J.|last5=Morton|first5=Cynthia C.|date=2008-10|title=Novel SSBP2-JAK2 fusion gene resulting from a t(5;9)(q14.1;p24.1) in pre-B acute lymphocytic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/18618714|journal=Genes, Chromosomes & Cancer|volume=47|issue=10|pages=884–889|doi=10.1002/gcc.20585|issn=1098-2264|pmid=18618714}}</ref> |
| | | | ||
|- | |- | ||
| − | |''STRN3'' | + | |''[[STRN3]]'' |
|t(9;14)(p24.1;q12) | |t(9;14)(p24.1;q12) | ||
|''STRN3-JAK2'' on der(9) | |''STRN3-JAK2'' on der(9) | ||
|YES | |YES | ||
| − | | | + | |<ref>{{Cite journal|last=Roberts|first=Kathryn G.|last2=Morin|first2=Ryan D.|last3=Zhang|first3=Jinghui|last4=Hirst|first4=Martin|last5=Zhao|first5=Yongjun|last6=Su|first6=Xiaoping|last7=Chen|first7=Shann-Ching|last8=Payne-Turner|first8=Debbie|last9=Churchman|first9=Michelle L.|date=2012-08-14|title=Genetic alterations activating kinase and cytokine receptor signaling in high-risk acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/22897847|journal=Cancer Cell|volume=22|issue=2|pages=153–166|doi=10.1016/j.ccr.2012.06.005|issn=1878-3686|pmc=3422513|pmid=22897847}}</ref> |
| | | | ||
|- | |- | ||
| − | |''TERF2'' | + | |''[[TERF2]]'' |
|t(9;16)(p24.1;q22.1) | |t(9;16)(p24.1;q22.1) | ||
|''TERF2-JAK2'' on der(9) | |''TERF2-JAK2'' on der(9) | ||
|YES | |YES | ||
| − | | | + | |<ref>{{Cite journal|last=Steeghs|first=Elisabeth M. P.|last2=Jerchel|first2=Isabel S.|last3=de Goffau-Nobel|first3=Willemieke|last4=Hoogkamer|first4=Alex Q.|last5=Boer|first5=Judith M.|last6=Boeree|first6=Aurélie|last7=van de Ven|first7=Cesca|last8=Koudijs|first8=Marco J.|last9=Besselink|first9=Nicolle J. M.|date=2017-10-27|title=JAK2 aberrations in childhood B-cell precursor acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/29163799|journal=Oncotarget|volume=8|issue=52|pages=89923–89938|doi=10.18632/oncotarget.21027|issn=1949-2553|pmc=5685720|pmid=29163799}}</ref> |
| | | | ||
|- | |- | ||
| − | |''TPR'' | + | |''[[TPR]]'' |
|t(1;9)(q31.1;p24.1) | |t(1;9)(q31.1;p24.1) | ||
|''TPR-JAK2'' on der(9) | |''TPR-JAK2'' on der(9) | ||
|YES | |YES | ||
| − | | | + | |<ref name=":1" /> |
| | | | ||
|- | |- | ||
| − | |''USP25'' | + | |''[[USP25]]'' |
|t(9;21)(p24.1;q21.1) | |t(9;21)(p24.1;q21.1) | ||
|''USP25-JAK2'' | |''USP25-JAK2'' | ||
|? YES | |? YES | ||
| − | | | + | |<ref name=":0" /> |
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | |Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | ||
|- | |- | ||
| − | |''ZBTB46'' | + | |''[[ZBTB46]]'' |
|t(9;20)(p24.1;q13.3) | |t(9;20)(p24.1;q13.3) | ||
|''ZBTB46-JAK2'' on der(9) | |''ZBTB46-JAK2'' on der(9) | ||
|NO | |NO | ||
| − | | | + | |<ref name=":2" /> |
| | | | ||
|- | |- | ||
| − | |''ZNF274'' | + | |''[[ZNF274]]'' |
|t(9;19)(p24.1;q13.4) | |t(9;19)(p24.1;q13.4) | ||
|''ZNF274-JAK2'' | |''ZNF274-JAK2'' | ||
|NO | |NO | ||
| − | | | + | |<ref name=":0" /> |
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | |Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | ||
|- | |- | ||
| − | |''ZNF340'' | + | |''[[ZNF340]]'' |
|t(9;20)(p24.1;q13.3) | |t(9;20)(p24.1;q13.3) | ||
|''ZNF340-JAK2'' on der(9) | |''ZNF340-JAK2'' on der(9) | ||
|NO | |NO | ||
| − | | | + | |<ref name=":2" /> |
| | | | ||
|- | |- | ||
| − | |'''''PDGFRA''''' | + | |'''''[[PDGFRA]]''''' |
(4q12) | (4q12) | ||
| − | |''FIP1L1'' | + | |''[[FIP1L1]]'' |
|del(4)(q12q12) | |del(4)(q12q12) | ||
|''FIP1L1-PDGFRA'' | |''FIP1L1-PDGFRA'' | ||
|NO | |NO | ||
| − | | | + | |<ref name=":7" /> |
|Interstitial deletion. Seen also in myeloid/lymphoid neoplasms with eosinophilia | |Interstitial deletion. Seen also in myeloid/lymphoid neoplasms with eosinophilia | ||
|- | |- | ||
| − | | rowspan="8" |'''''PDGFRB''''' (5q32) | + | | rowspan="8" |'''''[[PDGFRB]]''''' (5q32) |
| − | |''ATF7IP'' | + | |''[[ATF7IP]]'' |
|t(5;12)(q32;p13.1) | |t(5;12)(q32;p13.1) | ||
|''ATF7IP-PDGFRB'' on der(5) | |''ATF7IP-PDGFRB'' on der(5) | ||
|YES | |YES | ||
| − | | | + | |<ref>{{Cite journal|last=Kobayashi|first=Kenichiro|last2=Mitsui|first2=Kazumasa|last3=Ichikawa|first3=Hitoshi|last4=Nakabayashi|first4=Kazuhiko|last5=Matsuoka|first5=Masaki|last6=Kojima|first6=Yasuko|last7=Takahashi|first7=Hiroyuki|last8=Iijima|first8=Kazutoshi|last9=Ootsubo|first9=Kaori|date=2014-06|title=ATF7IP as a novel PDGFRB fusion partner in acute lymphoblastic leukaemia in children|url=https://pubmed.ncbi.nlm.nih.gov/24628626|journal=British Journal of Haematology|volume=165|issue=6|pages=836–841|doi=10.1111/bjh.12834|issn=1365-2141|pmid=24628626}}</ref><ref>{{Cite journal|last=Ishibashi|first=Takeshi|last2=Yaguchi|first2=Akinori|last3=Terada|first3=Kazuki|last4=Ueno-Yokohata|first4=Hitomi|last5=Tomita|first5=Osamu|last6=Iijima|first6=Kazutoshi|last7=Kobayashi|first7=Kenichiro|last8=Okita|first8=Hajime|last9=Fujimura|first9=Junya|date=2016-03|title=Ph-like ALL-related novel fusion kinase ATF7IP-PDGFRB exhibits high sensitivity to tyrosine kinase inhibitors in murine cells|url=https://pubmed.ncbi.nlm.nih.gov/26703895|journal=Experimental Hematology|volume=44|issue=3|pages=177–188.e5|doi=10.1016/j.exphem.2015.11.009|issn=1873-2399|pmid=26703895}}</ref> <ref>{{Cite journal|last=Zhang|first=Ge|last2=Zhang|first2=Yanle|last3=Wu|first3=Jianrong|last4=Chen|first4=Yan|last5=Ma|first5=Zhigui|date=2017-11-14|title=Acute Lymphoblastic Leukemia Patient with Variant ATF7IP/PDGFRB Fusion and Favorable Response to Tyrosine Kinase Inhibitor Treatment: A Case Report|url=https://pubmed.ncbi.nlm.nih.gov/29133777|journal=The American Journal of Case Reports|volume=18|pages=1204–1208|doi=10.12659/ajcr.906300|issn=1941-5923|pmc=5700447|pmid=29133777}}</ref> |
| − | |||
| − | |||
| | | | ||
|- | |- | ||
| − | |''EBF1'' | + | |''[[EBF1]]'' |
|del(5)(q32q33.3) | |del(5)(q32q33.3) | ||
|''EBF1-PDGFRB'' | |''EBF1-PDGFRB'' | ||
|NO | |NO | ||
| − | | | + | |<ref>{{Cite journal|last=Schwab|first=Claire|last2=Ryan|first2=Sarra L.|last3=Chilton|first3=Lucy|last4=Elliott|first4=Alannah|last5=Murray|first5=James|last6=Richardson|first6=Stacey|last7=Wragg|first7=Christopher|last8=Moppett|first8=John|last9=Cummins|first9=Michelle|date=2016-05-05|title=EBF1-PDGFRB fusion in pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL): genetic profile and clinical implications|url=https://pubmed.ncbi.nlm.nih.gov/26872634|journal=Blood|volume=127|issue=18|pages=2214–2218|doi=10.1182/blood-2015-09-670166|issn=1528-0020|pmid=26872634}}</ref> |
|Interstitial deletion | |Interstitial deletion | ||
|- | |- | ||
| − | |''ETV6'' | + | |''[[ETV6]]'' |
|t(5;12)(q32;p13.2) | |t(5;12)(q32;p13.2) | ||
|''ETV6-PDGFRB'' on der(5) | |''ETV6-PDGFRB'' on der(5) | ||
|YES | |YES | ||
| − | | | + | |<ref name=":2" /> |
| | | | ||
|- | |- | ||
| − | |''SNX29'' | + | |''[[SNX29]]'' |
|t(5;16)(q32;p13.1) | |t(5;16)(q32;p13.1) | ||
|''SNX29-PDGFRB'' on der(5) | |''SNX29-PDGFRB'' on der(5) | ||
|YES | |YES | ||
| − | | | + | |<ref name=":2" /> |
| | | | ||
|- | |- | ||
| − | |''SSBP2'' | + | |''[[SSBP2]]'' |
|t(5;5)(q14.1;q32) | |t(5;5)(q14.1;q32) | ||
|''SSBP2-PDGFRB'' | |''SSBP2-PDGFRB'' | ||
|? YES | |? YES | ||
| − | | | + | |<ref name=":2" /> |
|On the same chromosome arm; however, a simple deletion cannot cause the fusion due to the orientation of genes | |On the same chromosome arm; however, a simple deletion cannot cause the fusion due to the orientation of genes | ||
|- | |- | ||
| − | |''TNIP1'' | + | |''[[TNIP1]]'' |
|del(5)(q32q33.1) | |del(5)(q32q33.1) | ||
|''TNIP1-PDGFRB'' | |''TNIP1-PDGFRB'' | ||
|NO | |NO | ||
| − | | | + | |<ref name=":2" /> |
|Interstitial deletion. Seen also in myeloid/lymphoid neoplasms with eosinophilia | |Interstitial deletion. Seen also in myeloid/lymphoid neoplasms with eosinophilia | ||
|- | |- | ||
| − | |''ZEB2'' | + | |''[[ZEB2]]'' |
|t(2;5)(q22.3;q32) | |t(2;5)(q22.3;q32) | ||
|''ZEB2-PDGFRB'' on der(5) | |''ZEB2-PDGFRB'' on der(5) | ||
|YES | |YES | ||
| − | | | + | |<ref name=":1" /> |
| | | | ||
|- | |- | ||
| − | |''ZMYND8'' | + | |''[[ZMYND8]]'' |
|t(5;20)(q32;q13.1) | |t(5;20)(q32;q13.1) | ||
|''ZMYND8-PDGFRB'' on der(5) | |''ZMYND8-PDGFRB'' on der(5) | ||
|YES | |YES | ||
| − | | | + | |<ref name=":0" /> |
| | | | ||
|- | |- | ||
| − | | rowspan="3" |'''''PTK2B''''' (8p21.2) | + | | rowspan="3" |'''''[[PTK2B]]''''' (8p21.2) |
| − | |''KDM6A'' | + | |''[[KDM6A]]'' |
|t(X;8)(p11.3;p21.2) | |t(X;8)(p11.3;p21.2) | ||
|''KDM6A-PTK2B'' on der(8) | |''KDM6A-PTK2B'' on der(8) | ||
|YES | |YES | ||
| − | | | + | |<ref name=":1" /> |
| | | | ||
|- | |- | ||
| − | |''STAG2'' | + | |''[[STAG2]]'' |
|t(X;8)(q25;p21.2) | |t(X;8)(q25;p21.2) | ||
|''STAG2-PTK2B'' | |''STAG2-PTK2B'' | ||
|YES | |YES | ||
| − | | | + | |<ref name=":1" /> |
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | |Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | ||
|- | |- | ||
| − | |''TMEM2'' | + | |''[[TMEM2]]'' |
|t(8;9)(p21.2;q21.1) | |t(8;9)(p21.2;q21.1) | ||
|''TMEM2-PTK2B'' on der(8) | |''TMEM2-PTK2B'' on der(8) | ||
|YES | |YES | ||
| − | | | + | |<ref name=":2" /> |
| | | | ||
|- | |- | ||
| − | | rowspan="3" |'''''TYK2''''' (19p13.2) | + | | rowspan="3" |'''''[[TYK2]]''''' (19p13.2) |
| − | |''MYB'' | + | |''[[MYB]]'' |
|t(6;19)(q23.3;p13.2) | |t(6;19)(q23.3;p13.2) | ||
|''MYB-TYK2'' on der(6) | |''MYB-TYK2'' on der(6) | ||
|YES | |YES | ||
| − | | | + | |<ref name=":6" /> |
| | | | ||
|- | |- | ||
| − | |''SMARCA4'' | + | |''[[SMARCA4]]'' |
|inv(19)(p13.2p13.2) | |inv(19)(p13.2p13.2) | ||
|''SMARCA4-TYK2'' | |''SMARCA4-TYK2'' | ||
|NO | |NO | ||
| − | | | + | |<ref name=":2" /> |
| | | | ||
|- | |- | ||
| − | |''ZNF340'' | + | |''[[ZNF340]]'' |
|t(19;20)(p13.2;q13.3) | |t(19;20)(p13.2;q13.3) | ||
|''ZNF340-TYK2'' | |''ZNF340-TYK2'' | ||
|NO | |NO | ||
| − | | | + | |<ref name=":2" /> |
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | |Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | ||
|- | |- | ||
| rowspan="9" |'''''ZNF384-''rearranged B-ALL''' | | rowspan="9" |'''''ZNF384-''rearranged B-ALL''' | ||
| − | | rowspan="9" |'''''ZNF384''''' (12p13.3) '' '' | + | | rowspan="9" |'''''[[ZNF384]]''''' (12p13.3) '' '' |
| − | |''ARID1B'' | + | |''[[ARID1B]]'' |
|t(6;12)(q25.3;p13.3) | |t(6;12)(q25.3;p13.3) | ||
|''ARID1B-ZNF384'' on der(6) | |''ARID1B-ZNF384'' on der(6) | ||
|YES (subtle) | |YES (subtle) | ||
| − | | | + | |<ref>{{Cite journal|last=Shago|first=Mary|last2=Abla|first2=Oussama|last3=Hitzler|first3=Johann|last4=Weitzman|first4=Sheila|last5=Abdelhaleem|first5=Mohamed|date=2016-11|title=Frequency and outcome of pediatric acute lymphoblastic leukemia with ZNF384 gene rearrangements including a novel translocation resulting in an ARID1B/ZNF384 gene fusion|url=https://pubmed.ncbi.nlm.nih.gov/27392123|journal=Pediatric Blood & Cancer|volume=63|issue=11|pages=1915–1921|doi=10.1002/pbc.26116|issn=1545-5017|pmid=27392123}}</ref> |
| | | | ||
|- | |- | ||
| − | |''BMP2K'' | + | |''[[BMP2K]]'' |
|t(4;12)(q21.2;p13.3) | |t(4;12)(q21.2;p13.3) | ||
|''BMP2K-ZNF384'' on der(4) | |''BMP2K-ZNF384'' on der(4) | ||
|YES | |YES | ||
| − | | | + | |<ref name=":8">{{Cite journal|last=Hirabayashi|first=Shinsuke|last2=Ohki|first2=Kentaro|last3=Nakabayashi|first3=Kazuhiko|last4=Ichikawa|first4=Hitoshi|last5=Momozawa|first5=Yukihide|last6=Okamura|first6=Kohji|last7=Yaguchi|first7=Akinori|last8=Terada|first8=Kazuki|last9=Saito|first9=Yuya|date=2017-01|title=ZNF384-related fusion genes define a subgroup of childhood B-cell precursor acute lymphoblastic leukemia with a characteristic immunotype|url=https://pubmed.ncbi.nlm.nih.gov/27634205|journal=Haematologica|volume=102|issue=1|pages=118–129|doi=10.3324/haematol.2016.151035|issn=1592-8721|pmc=5210242|pmid=27634205}}</ref> |
| | | | ||
|- | |- | ||
| − | |''CREBBP'' | + | |''[[CREBBP]]'' |
|t(12;16)(p13.3;p13.3) | |t(12;16)(p13.3;p13.3) | ||
|''CREBBP-ZNF384'' on der(16) | |''CREBBP-ZNF384'' on der(16) | ||
|NO | |NO | ||
| − | | | + | |<ref name=":9">{{Cite journal|last=Liu|first=Yuan-Fang|last2=Wang|first2=Bai-Yan|last3=Zhang|first3=Wei-Na|last4=Huang|first4=Jin-Yan|last5=Li|first5=Ben-Shang|last6=Zhang|first6=Ming|last7=Jiang|first7=Lu|last8=Li|first8=Jian-Feng|last9=Wang|first9=Ming-Jie|date=2016-06|title=Genomic Profiling of Adult and Pediatric B-cell Acute Lymphoblastic Leukemia|url=https://pubmed.ncbi.nlm.nih.gov/27428428|journal=EBioMedicine|volume=8|pages=173–183|doi=10.1016/j.ebiom.2016.04.038|issn=2352-3964|pmc=4919728|pmid=27428428}}</ref> <ref name=":8" /> |
| | | | ||
|- | |- | ||
| − | |''EP300'' | + | |''[[EP300]]'' |
|t(12;22)(p13.3;q13.2) | |t(12;22)(p13.3;q13.2) | ||
|''EP300-ZNF384'' on der(22) | |''EP300-ZNF384'' on der(22) | ||
|NO | |NO | ||
| − | | | + | |<ref>{{Cite journal|last=Gocho|first=Y.|last2=Kiyokawa|first2=N.|last3=Ichikawa|first3=H.|last4=Nakabayashi|first4=K.|last5=Osumi|first5=T.|last6=Ishibashi|first6=T.|last7=Ueno|first7=H.|last8=Terada|first8=K.|last9=Oboki|first9=K.|date=2015-12|title=A novel recurrent EP300-ZNF384 gene fusion in B-cell precursor acute lymphoblastic leukemia|url=https://pubmed.ncbi.nlm.nih.gov/25943178|journal=Leukemia|volume=29|issue=12|pages=2445–2448|doi=10.1038/leu.2015.111|issn=1476-5551|pmid=25943178}}</ref> |
| | | | ||
|- | |- | ||
| − | |''EWSR1'' | + | |''[[EWSR1]]'' |
|t(12;22)(p13.3;q12.2) | |t(12;22)(p13.3;q12.2) | ||
|''EWSR1-ZNF384'' on der(22) | |''EWSR1-ZNF384'' on der(22) | ||
|YES (subtle) | |YES (subtle) | ||
| − | | | + | |<ref>{{Cite journal|last=Martini|first=Alessandra|last2=La Starza|first2=Roberta|last3=Janssen|first3=Hilde|last4=Bilhou-Nabera|first4=Chrystèle|last5=Corveleyn|first5=Anniek|last6=Somers|first6=Riet|last7=Aventin|first7=Ana|last8=Foà|first8=Robin|last9=Hagemeijer|first9=Anne|date=2002-10-01|title=Recurrent rearrangement of the Ewing's sarcoma gene, EWSR1, or its homologue, TAF15, with the transcription factor CIZ/NMP4 in acute leukemia|url=https://pubmed.ncbi.nlm.nih.gov/12359745|journal=Cancer Research|volume=62|issue=19|pages=5408–5412|issn=0008-5472|pmid=12359745}}</ref> |
| | | | ||
|- | |- | ||
| − | |''SMARCA2'' | + | |''[[SMARCA2]]'' |
|t(9;12)(p24.3;p13.3) | |t(9;12)(p24.3;p13.3) | ||
|''SMARCA2-ZNF384'' | |''SMARCA2-ZNF384'' | ||
|No | |No | ||
| − | | | + | |<ref name=":4" /> |
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | |Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | ||
|- | |- | ||
| − | |''SYNRG'' | + | |''[[SYNRG]]'' |
|t(12;17)(p13.3;q12) | |t(12;17)(p13.3;q12) | ||
|''SYNGR-ZNF384'' | |''SYNGR-ZNF384'' | ||
|YES | |YES | ||
| − | | | + | |<ref name=":8" /> |
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | |Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | ||
|- | |- | ||
| − | |''TAF15'' | + | |''[[TAF15]]'' |
|t(12;17)(p13.3;q12) | |t(12;17)(p13.3;q12) | ||
|''TAF15-ZNF384'' on der(17) | |''TAF15-ZNF384'' on der(17) | ||
|YES | |YES | ||
| − | | | + | |<ref>{{Cite journal|last=Nyquist|first=Kaja Beate|last2=Thorsen|first2=Jim|last3=Zeller|first3=Bernward|last4=Haaland|first4=Alf|last5=Trøen|first5=Gunhild|last6=Heim|first6=Sverre|last7=Micci|first7=Francesca|date=2011-03|title=Identification of the TAF15-ZNF384 fusion gene in two new cases of acute lymphoblastic leukemia with a t(12;17)(p13;q12)|url=https://pubmed.ncbi.nlm.nih.gov/21504714|journal=Cancer Genetics|volume=204|issue=3|pages=147–152|doi=10.1016/j.cancergen.2011.01.003|issn=2210-7762|pmid=21504714}}</ref> |
| | | | ||
|- | |- | ||
| − | |''TCF3'' | + | |''[[TCF3]]'' |
|t(12;19)(p13.3;p13.3) | |t(12;19)(p13.3;p13.3) | ||
|''TCF3-ZNF384'' on der(19) | |''TCF3-ZNF384'' on der(19) | ||
|NO | |NO | ||
| − | | | + | |<ref name=":8" /> |
| | | | ||
|- | |- | ||
| rowspan="6" |'''''MEF2D-''rearranged B-ALL''' | | rowspan="6" |'''''MEF2D-''rearranged B-ALL''' | ||
| − | + | | rowspan="6" |'''''[[MEF2D]]''''' | |
| − | | rowspan="6" |'''''MEF2D''''' (1q22) | + | (1q22) |
| + | |''[[BCL9]]'' | ||
|inv(1)(q21.2q22) | |inv(1)(q21.2q22) | ||
|''MEF2D-BCL9'' | |''MEF2D-BCL9'' | ||
|No | |No | ||
| − | | | + | |<ref>{{Cite journal|last=Suzuki|first=Kyogo|last2=Okuno|first2=Yusuke|last3=Kawashima|first3=Nozomu|last4=Muramatsu|first4=Hideki|last5=Okuno|first5=Tatsuya|last6=Wang|first6=Xinan|last7=Kataoka|first7=Shinsuke|last8=Sekiya|first8=Yuko|last9=Hamada|first9=Motoharu|date=2016-10-01|title=MEF2D-BCL9 Fusion Gene Is Associated With High-Risk Acute B-Cell Precursor Lymphoblastic Leukemia in Adolescents|url=https://pubmed.ncbi.nlm.nih.gov/27507882|journal=Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology|volume=34|issue=28|pages=3451–3459|doi=10.1200/JCO.2016.66.5547|issn=1527-7755|pmid=27507882}}</ref> <ref name=":4" /> <ref name=":9" /> |
| | | | ||
|- | |- | ||
| − | |''CSF1R'' | + | |''[[CSF1R]]'' |
|t(1;5)(q22;q32) | |t(1;5)(q22;q32) | ||
|''MEF2D-CSF1R'' on der(5) | |''MEF2D-CSF1R'' on der(5) | ||
|YES | |YES | ||
| − | | | + | |<ref name=":4" /> |
| | | | ||
|- | |- | ||
| − | |''FOXJ2'' | + | |''[[FOXJ2]]'' |
|t(1;12)(q22;p13.3) | |t(1;12)(q22;p13.3) | ||
|''MEF2D-FOXJ2'' on der(12) | |''MEF2D-FOXJ2'' on der(12) | ||
|YES | |YES | ||
| − | | | + | |<ref name=":4" /> |
| | | | ||
|- | |- | ||
| − | |''HNRNPH1'' | + | |''[[HNRNPH1]]'' |
|t(1;5)(q22;q35.3) | |t(1;5)(q22;q35.3) | ||
|''MEF2D-HNRNPH1'' on der(5) | |''MEF2D-HNRNPH1'' on der(5) | ||
|YES | |YES | ||
| − | | | + | |<ref name=":4" /> |
| | | | ||
|- | |- | ||
| − | |''HNRNPUL1'' | + | |''[[HNRNPUL1]]'' |
|t(1;19)(q22;q13.2) | |t(1;19)(q22;q13.2) | ||
|''MEF2D-HNRNPUL1'' | |''MEF2D-HNRNPUL1'' | ||
|? YES | |? YES | ||
| − | | | + | |<ref>{{Cite journal|last=Ohki|first=Kentaro|last2=Kiyokawa|first2=Nobutaka|last3=Saito|first3=Yuya|last4=Hirabayashi|first4=Shinsuke|last5=Nakabayashi|first5=Kazuhiko|last6=Ichikawa|first6=Hitoshi|last7=Momozawa|first7=Yukihide|last8=Okamura|first8=Kohji|last9=Yoshimi|first9=Ai|date=2019-01|title=Clinical and molecular characteristics of MEF2D fusion-positive B-cell precursor acute lymphoblastic leukemia in childhood, including a novel translocation resulting in MEF2D-HNRNPH1 gene fusion|url=https://pubmed.ncbi.nlm.nih.gov/30171027|journal=Haematologica|volume=104|issue=1|pages=128–137|doi=10.3324/haematol.2017.186320|issn=1592-8721|pmc=6312004|pmid=30171027}}</ref> |
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | |Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | ||
|- | |- | ||
| − | |''SS18'' | + | |''[[SS18]]'' |
|t(1;18)(q22;q11.2) | |t(1;18)(q22;q11.2) | ||
|''MEF2D-SS18'' on der(18) | |''MEF2D-SS18'' on der(18) | ||
|YES | |YES | ||
| − | | | + | |<ref name=":4" /> |
| | | | ||
|} | |} | ||
Latest revision as of 10:50, 26 July 2021
Table 1 - Prevalence and prognosis of B-ALL genomic abnormalities in the pediatric and adult population for all categories reported to date. Of the Ph-like category, only CRLF2 and ABL1-class rearrangements are indicated. Table derived from Akkari et al., 2020 [PMID 32302940] with permission from Cancer Genetics. All percentages are approximate.
| Percentage of B-ALL Cases | |||
| Genomic abnormality | Pediatric | Adult | Prognosis |
| t(12;21)(p13;q22); ETV6-RUNX1* | 25% | 3% | Favorable |
| Hyperdiploidy* | 25% | 5-7% | Favorable |
| t(9;22)(q34;q11.2); BCR-ABL1* | 2-4% | 25-30% | Poor (outcome may improve with TKI) |
| CRLF2 (PAR1, Xp22.33/Yp11.2) (Ph-like) | 5% | 20% | Poor |
| ABL-Class fusions (Ph-like) | 3-5% | 2-3% | Poor (outcome may improve with TKI) |
| KMT2A (11q23) rearrangements* | 5% | 10% | Poor |
| t(1;19)(q23;p13.3); TCF3-PBX1* | 5% | 3% | Favorable |
| TCF3 (19p13.3) rearrangements (excluding ZNF384) | >1% | >1% | Extremely Poor |
| Hypodiploidy* | 1-2% | 15% | Poor |
| dic(9;12)(p13;p13) | 1% | Rare | Favorable |
| dic(9:20)(p13;q11) | 2% | 1% | Favorable |
| t(4;14)(q35.2;q32); IGH/DUX4 | 5-9% | 5% | Favorable |
| t(5;14)(q31.1;q32.1); IGH/IL3* | 1% | 1% | Unknown |
| ZNF384 (12p13.31) rearrangements | 1-5% | 2-7% | Favorable |
| iAMP21 (RUNX1)* | 2% | Rare | Poor |
| IKZF1 deletions | 15-20% | 25-30% | Poor except in combination with ERG del |
*indicates 2016 WHO entities including provisional categories.
Table 2 - Gene fusions reported in Ph-like B-ALL and other new B-ALL molecular subtypes (Literature Review). Table derived from Akkari et al., 2020 [PMID 32302940] with permission from Cancer Genetics.
| Subtype | 3’ Partner | 5’ Partner | Chromosome rearrangement | Gene fusion | Visible by G-banding | References | Comment |
| Ph-like
B-ALL |
ABL1
(9q34) |
CENPC1 | t(4;9)(q13;q34) | CENPC1-ABL1 | YES | [1] | Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms |
| ETV6 | t(9;12)(q34;p13) | ETV6-ABL1 | NO | [2] | Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | ||
| FOXP1 | t(3;9)(p13;q34) | FOXP1-ABL1 on der(3) | YES | [3] | |||
| LSM14A | t(9;19)(q34;q13.1) | LSM14A-ABL1 on der(19) | YES | [1] | |||
| NUP153 | t(6;9)(p22.3;q34) | NUP153-ABL1 on der(6) | YES | [1] | |||
| NUP214 | dup(9)(q34.1q34.1) | NUP214-ABL1 | NO | [4] | Tandem duplication (~370 kb) detectable by CMA | ||
| RANBP2 | t(2;9)(q12.3;q34) | RANBP-ABL1 on der(2) | YES | [5] | |||
| RCSD1 | t(1;9)(q24.2;q34) | RCSD1-ABL1 on der(1) | YES | [6] | |||
| SFPQ | t(1;9)(p34.3;q34) | SFPQ-ABL1 on der(1) | YES | [7] | |||
| SNX1 | t(9;15)(q34;q22.3) | SNX1-ABL1 on der(15) | YES | [8] | |||
| SNX2 | t(5;9)(q23.2;q34) | SNX2-ABL1 on der(5) | YES | [9] | |||
| ZMIZ1 | t(9;10)(q34;q22.3) | ZMIZ1-ABL1 on der(10) | YES | [10] | |||
| ABL2
(1q25.2) |
PAG1 | t(1;8)(q25.2;q21.1) | PAG1-ABL2 on der(1) | YES | [5] | ||
| RCSD1 | 1q24.2q25.2 rearrangement | RCSD1-ABL2 | NO | [11] | On the same chromosome arm; however, a simple deletion cannot cause the fusion due to the orientation of genes | ||
| ZC3HAV1 | t(1;7)(q25.2;q34) | ZC3HAV1-ABL2 on der(1) | YES | [12] | |||
| CRLF2
(Xp22.3 & Yp11.3) |
IGH | t(X;14)(p22.3;q32) or
t(Y;14)(p11.3;q32) |
IGH/CRLF2 | NO | [13] [5] | ||
| P2RY8 | del(X)(p22.3p22.3) or del(Y)(p11.3p11.3) | P2RY8-CRLF2 | NO | [13] [5] | |||
| CSF1R
(5q32) |
MEF2D | t(1;5)(q22;q32) | MEF2D-CSF1R on der(5) | YES | [14] | ||
| SSBP2 | 5q14.1q32 rearrangement | SSBP2-CSF1R | YES | [1] | On the same chromosome arm; however, a simple deletion cannot cause the fusion due to the orientation of genes | ||
| TBL1XR1 | t(3;5)(q26.3;q32) | TBL1XR1-CSF1R on der(5) | YES | [1] | |||
| DGKH (13q14.1) | ZFAND3 | t(6;13)(p21.2;q14.1) | ZFAND3-DGKH | YES | [5] | Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | |
| EPOR (19p13.2) | IGH | ins(14;19)(q32;p13.2p13.2) | IGH/EPOR | Cryptic insertion | [15] | ||
| IGK | ins(2;19)(p11.2;p13.2p13.2) | IGK/EPOR | Cryptic insertion | [15] | |||
| LAIR1 | inv(19)(p13.2q13.42) | LAIR1-EPOR | NO | [15] | Inversion of chromosome 19 juxtaposes EPOR to the upstream region of LAIR1 | ||
| THADA | t(2;19)(p21;p13.2) | THADA-EPOR | YES | [8] | |||
| IL2RB (22q12.3) | MYH9 | 22q12.3 rearrangement | MYH9-IL2RB | NO | [5] | On the same chromosome arm; however, a simple deletion cannot cause the fusion due to the orientation of genes | |
| JAK2
(9p24.1) |
ATF7IP | t(9;12)(p24.1;p13.1) | ATF7IP-JAK2 on der(9) | NO | [5] [16] | ||
| BCR | t(9;22)(p24.1;q11.2) | BCR-JAK2 | ? YES | [17] | Seen also in myeloproliferative neoplasms. Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | ||
| EBF1 | t(5;9)(q33.3;p24.1) | EBF1-JAK2 on der(9) | NO (SUBTLE) | [18] | |||
| ETV6 | t(9;12)(p24.1;p13.2) | ETV6-JAK2 on der(9) | NO (SUBTLE) | [19][20] | |||
| GOLGA5 | t(9;14)(p24.1;q32.1) | GOLGA5-JAK2 | NO (SUBTLE) | [21] | Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | ||
| HMBOX1 | t(8;9)(p21.1;p24.1) | HMBOX1-JAK2 on der(9) | YES | [22] | |||
| OFD1 | t(X;9)(p22.2;p24.1) | OFD1-JAK2 on der(9) | NO (SUBTLE) | [23] | |||
| PAX5 | inv(9)(p13.2p24.1) | PAX5-JAK2 | YES | [24] | An inversion is required as genes are oriented in opposite directions | ||
| PCM1 | t(8;9)(p22;p24.1) | PCM1-JAK2 on der(9) | YES (SUBTLE) | [8] | Seen also in myeloid/lymphoid neoplasms with eosinophilia | ||
| PPFIBP1 | t(9;12)(p24.1;p11.2) | PPFIBP1-JAK2 on der(9) | YES | [8] | |||
| RFX3 | inv(9)(p24.1p24.2) | RFX3-JAK2 | NO | [1] | An inversion is required as genes are oriented in opposite directions | ||
| SMU1 | inv(9)(p21.1p24.1) | SMU1-JAK2 | NO | [22] | An inversion is required as genes are oriented in opposite directions | ||
| SNX29 | t(9;16)(p24.1;p13.1) | SNX29-JAK2 on der(9) | YES | [22] | |||
| SPAG9 | t(9;17)(p24.1;q21.3) | SPAG9-JAK2 on der(9) | YES | [25] | |||
| SSBP2 | t(5;9)(q14.1;p24.1) | SSBP2-JAK2 on der(9) | YES | [26] | |||
| STRN3 | t(9;14)(p24.1;q12) | STRN3-JAK2 on der(9) | YES | [27] | |||
| TERF2 | t(9;16)(p24.1;q22.1) | TERF2-JAK2 on der(9) | YES | [28] | |||
| TPR | t(1;9)(q31.1;p24.1) | TPR-JAK2 on der(9) | YES | [5] | |||
| USP25 | t(9;21)(p24.1;q21.1) | USP25-JAK2 | ? YES | [1] | Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | ||
| ZBTB46 | t(9;20)(p24.1;q13.3) | ZBTB46-JAK2 on der(9) | NO | [8] | |||
| ZNF274 | t(9;19)(p24.1;q13.4) | ZNF274-JAK2 | NO | [1] | Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | ||
| ZNF340 | t(9;20)(p24.1;q13.3) | ZNF340-JAK2 on der(9) | NO | [8] | |||
| PDGFRA
(4q12) |
FIP1L1 | del(4)(q12q12) | FIP1L1-PDGFRA | NO | [22] | Interstitial deletion. Seen also in myeloid/lymphoid neoplasms with eosinophilia | |
| PDGFRB (5q32) | ATF7IP | t(5;12)(q32;p13.1) | ATF7IP-PDGFRB on der(5) | YES | [29][30] [31] | ||
| EBF1 | del(5)(q32q33.3) | EBF1-PDGFRB | NO | [32] | Interstitial deletion | ||
| ETV6 | t(5;12)(q32;p13.2) | ETV6-PDGFRB on der(5) | YES | [8] | |||
| SNX29 | t(5;16)(q32;p13.1) | SNX29-PDGFRB on der(5) | YES | [8] | |||
| SSBP2 | t(5;5)(q14.1;q32) | SSBP2-PDGFRB | ? YES | [8] | On the same chromosome arm; however, a simple deletion cannot cause the fusion due to the orientation of genes | ||
| TNIP1 | del(5)(q32q33.1) | TNIP1-PDGFRB | NO | [8] | Interstitial deletion. Seen also in myeloid/lymphoid neoplasms with eosinophilia | ||
| ZEB2 | t(2;5)(q22.3;q32) | ZEB2-PDGFRB on der(5) | YES | [5] | |||
| ZMYND8 | t(5;20)(q32;q13.1) | ZMYND8-PDGFRB on der(5) | YES | [1] | |||
| PTK2B (8p21.2) | KDM6A | t(X;8)(p11.3;p21.2) | KDM6A-PTK2B on der(8) | YES | [5] | ||
| STAG2 | t(X;8)(q25;p21.2) | STAG2-PTK2B | YES | [5] | Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | ||
| TMEM2 | t(8;9)(p21.2;q21.1) | TMEM2-PTK2B on der(8) | YES | [8] | |||
| TYK2 (19p13.2) | MYB | t(6;19)(q23.3;p13.2) | MYB-TYK2 on der(6) | YES | [18] | ||
| SMARCA4 | inv(19)(p13.2p13.2) | SMARCA4-TYK2 | NO | [8] | |||
| ZNF340 | t(19;20)(p13.2;q13.3) | ZNF340-TYK2 | NO | [8] | Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | ||
| ZNF384-rearranged B-ALL | ZNF384 (12p13.3) | ARID1B | t(6;12)(q25.3;p13.3) | ARID1B-ZNF384 on der(6) | YES (subtle) | [33] | |
| BMP2K | t(4;12)(q21.2;p13.3) | BMP2K-ZNF384 on der(4) | YES | [34] | |||
| CREBBP | t(12;16)(p13.3;p13.3) | CREBBP-ZNF384 on der(16) | NO | [35] [34] | |||
| EP300 | t(12;22)(p13.3;q13.2) | EP300-ZNF384 on der(22) | NO | [36] | |||
| EWSR1 | t(12;22)(p13.3;q12.2) | EWSR1-ZNF384 on der(22) | YES (subtle) | [37] | |||
| SMARCA2 | t(9;12)(p24.3;p13.3) | SMARCA2-ZNF384 | No | [14] | Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | ||
| SYNRG | t(12;17)(p13.3;q12) | SYNGR-ZNF384 | YES | [34] | Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | ||
| TAF15 | t(12;17)(p13.3;q12) | TAF15-ZNF384 on der(17) | YES | [38] | |||
| TCF3 | t(12;19)(p13.3;p13.3) | TCF3-ZNF384 on der(19) | NO | [34] | |||
| MEF2D-rearranged B-ALL | MEF2D
(1q22) |
BCL9 | inv(1)(q21.2q22) | MEF2D-BCL9 | No | [39] [14] [35] | |
| CSF1R | t(1;5)(q22;q32) | MEF2D-CSF1R on der(5) | YES | [14] | |||
| FOXJ2 | t(1;12)(q22;p13.3) | MEF2D-FOXJ2 on der(12) | YES | [14] | |||
| HNRNPH1 | t(1;5)(q22;q35.3) | MEF2D-HNRNPH1 on der(5) | YES | [14] | |||
| HNRNPUL1 | t(1;19)(q22;q13.2) | MEF2D-HNRNPUL1 | ? YES | [40] | Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms | ||
| SS18 | t(1;18)(q22;q11.2) | MEF2D-SS18 on der(18) | YES | [14] |
Reference
1. Akkari, Yassmine M. N.; et al. (2020-05). "Evidence-based review of genomic aberrations in B-lymphoblastic leukemia/lymphoma: Report from the cancer genomics consortium working group for lymphoblastic leukemia". Cancer Genetics. 243: 52–72. doi:10.1016/j.cancergen.2020.03.001. ISSN 2210-7762. PMID 32302940.
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 Reshmi, Shalini C.; et al. (2017-06-22). "Targetable kinase gene fusions in high-risk B-ALL: a study from the Children's Oncology Group". Blood. 129 (25): 3352–3361. doi:10.1182/blood-2016-12-758979. ISSN 1528-0020. PMC 5482101. PMID 28408464.
- ↑ Zaliova, Marketa; et al. (2016-09). "Characterization of leukemias with ETV6-ABL1 fusion". Haematologica. 101 (9): 1082–1093. doi:10.3324/haematol.2016.144345. ISSN 1592-8721. PMC 5060025. PMID 27229714. Check date values in:
|date=(help) - ↑ Ernst, Thomas; et al. (2011-04). "Identification of FOXP1 and SNX2 as novel ABL1 fusion partners in acute lymphoblastic leukaemia". British Journal of Haematology. 153 (1): 43–46. doi:10.1111/j.1365-2141.2010.08457.x. ISSN 1365-2141. PMID 21391972. Check date values in:
|date=(help) - ↑ Duployez, Nicolas; et al. (2016-04). "NUP214-ABL1 fusion defines a rare subtype of B-cell precursor acute lymphoblastic leukemia that could benefit from tyrosine kinase inhibitors". Haematologica. 101 (4): e133–134. doi:10.3324/haematol.2015.136499. ISSN 1592-8721. PMC 5004396. PMID 26681761. Check date values in:
|date=(help) - ↑ 5.00 5.01 5.02 5.03 5.04 5.05 5.06 5.07 5.08 5.09 5.10 Roberts, Kathryn G.; et al. (2014-09-11). "Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia". The New England Journal of Medicine. 371 (11): 1005–1015. doi:10.1056/NEJMoa1403088. ISSN 1533-4406. PMC 4191900. PMID 25207766.
- ↑ Collette, Y.; et al. (2015-03-13). "Drug response profiling can predict response to ponatinib in a patient with t(1;9)(q24;q34)-associated B-cell acute lymphoblastic leukemia". Blood Cancer Journal. 5: e292. doi:10.1038/bcj.2015.13. ISSN 2044-5385. PMC 4382656. PMID 25768406.
- ↑ Sheng, Guangying; et al. (2017). "t(1;9)(p34;q34)/SFPQ-ABL1 Fusion in a Patient with Ph-Like Common B-Cell Acute Lymphoblastic Leukemia". Acta Haematologica. 137 (1): 40–43. doi:10.1159/000452265. ISSN 1421-9662. PMID 27894117.
- ↑ 8.00 8.01 8.02 8.03 8.04 8.05 8.06 8.07 8.08 8.09 8.10 8.11 8.12 Tasian, Sarah K.; et al. (2017-11-09). "Philadelphia chromosome-like acute lymphoblastic leukemia". Blood. 130 (19): 2064–2072. doi:10.1182/blood-2017-06-743252. ISSN 1528-0020. PMC 5680607. PMID 28972016.
- ↑ Tomita, Osamu; et al. (2014-03). "Sensitivity of SNX2-ABL1 toward tyrosine kinase inhibitors distinct from that of BCR-ABL1". Leukemia Research. 38 (3): 361–370. doi:10.1016/j.leukres.2013.11.017. ISSN 1873-5835. PMID 24367893. Check date values in:
|date=(help) - ↑ Soler, G.; et al. (2008-06). "Fusion of ZMIZ1 to ABL1 in a B-cell acute lymphoblastic leukaemia with a t(9;10)(q34;q22.3) translocation". Leukemia. 22 (6): 1278–1280. doi:10.1038/sj.leu.2405033. ISSN 1476-5551. PMID 18007576. Check date values in:
|date=(help) - ↑ Raca, Gordana; et al. (2015-04). "RCSD1-ABL2 fusion resulting from a complex chromosomal rearrangement in high-risk B-cell acute lymphoblastic leukemia". Leukemia & Lymphoma. 56 (4): 1145–1147. doi:10.3109/10428194.2014.951851. ISSN 1029-2403. PMID 25098428. Check date values in:
|date=(help) - ↑ Tran, Thai Hoa; et al. (2018-03-13). "Prognostic impact of kinase-activating fusions and IKZF1 deletions in pediatric high-risk B-lineage acute lymphoblastic leukemia". Blood Advances. 2 (5): 529–533. doi:10.1182/bloodadvances.2017014704. ISSN 2473-9537. PMC 5851421. PMID 29507076.
- ↑ 13.0 13.1 Jain, Nitin; et al. (2017-02-02). "Ph-like acute lymphoblastic leukemia: a high-risk subtype in adults". Blood. 129 (5): 572–581. doi:10.1182/blood-2016-07-726588. ISSN 1528-0020. PMC 5290985. PMID 27919910.
- ↑ 14.0 14.1 14.2 14.3 14.4 14.5 14.6 Gu, Zhaohui; et al. (2016-11-08). "Genomic analyses identify recurrent MEF2D fusions in acute lymphoblastic leukaemia". Nature Communications. 7: 13331. doi:10.1038/ncomms13331. ISSN 2041-1723. PMC 5105166. PMID 27824051.
- ↑ 15.0 15.1 15.2 Iacobucci, Ilaria; et al. (2016-02-08). "Truncating Erythropoietin Receptor Rearrangements in Acute Lymphoblastic Leukemia". Cancer Cell. 29 (2): 186–200. doi:10.1016/j.ccell.2015.12.013. ISSN 1878-3686. PMC 4750652. PMID 26859458.
- ↑ Zhang, Qi; et al. (2018-01-30). "Inhibition of mTORC1/C2 signaling improves anti-leukemia efficacy of JAK/STAT blockade in CRLF2 rearranged and/or JAK driven Philadelphia chromosome-like acute B-cell lymphoblastic leukemia". Oncotarget. 9 (8): 8027–8041. doi:10.18632/oncotarget.24261. ISSN 1949-2553. PMC 5814279. PMID 29487712.
- ↑ Griesinger, Frank; et al. (2005-11). "A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11.2) translocation in a patient with a clinically typical chronic myeloid leukemia". Genes, Chromosomes & Cancer. 44 (3): 329–333. doi:10.1002/gcc.20235. ISSN 1045-2257. PMID 16001431. Check date values in:
|date=(help) - ↑ 18.0 18.1 Roberts, Kathryn G.; et al. (2017-09-12). "Oncogenic role and therapeutic targeting of ABL-class and JAK-STAT activating kinase alterations in Ph-like ALL". Blood Advances. 1 (20): 1657–1671. doi:10.1182/bloodadvances.2017011296. ISSN 2473-9529. PMC 5728345. PMID 29296813.
- ↑ Zhou, Min-hang; et al. (2012-08). "Detection of ETV6 gene rearrangements in adult acute lymphoblastic leukemia". Annals of Hematology. 91 (8): 1235–1243. doi:10.1007/s00277-012-1431-4. ISSN 1432-0584. PMID 22373549. Check date values in:
|date=(help) - ↑ Schwaller, Jurg (2012-12). "Modeling ETV6-JAK2-induced leukemia: insights from the zebrafish". Haematologica. 97 (12): 1783–1785. doi:10.3324/haematol.2012.080754. ISSN 1592-8721. PMC 3590083. PMID 23204479. Check date values in:
|date=(help) - ↑ Ding, Yang Y.; et al. (2018-09). "Clinical efficacy of ruxolitinib and chemotherapy in a child with Philadelphia chromosome-like acute lymphoblastic leukemia with GOLGA5-JAK2 fusion and induction failure". Haematologica. 103 (9): e427–e431. doi:10.3324/haematol.2018.192088. ISSN 1592-8721. PMC 6119161. PMID 29773603. Check date values in:
|date=(help) - ↑ 22.0 22.1 22.2 22.3 Roberts, Kathryn G.; et al. (2017-02). "High Frequency and Poor Outcome of Philadelphia Chromosome-Like Acute Lymphoblastic Leukemia in Adults". Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology. 35 (4): 394–401. doi:10.1200/JCO.2016.69.0073. ISSN 1527-7755. PMC 5455698. PMID 27870571. Check date values in:
|date=(help) - ↑ Yano, Mio; et al. (2015-12). "Identification of novel kinase fusion transcripts in paediatric B cell precursor acute lymphoblastic leukaemia with IKZF1 deletion". British Journal of Haematology. 171 (5): 813–817. doi:10.1111/bjh.13757. ISSN 1365-2141. PMID 26404892. Check date values in:
|date=(help) - ↑ Schinnerl, Dagmar; et al. (2015-02-19). "The role of the Janus-faced transcription factor PAX5-JAK2 in acute lymphoblastic leukemia". Blood. 125 (8): 1282–1291. doi:10.1182/blood-2014-04-570960. ISSN 1528-0020. PMC 4375719. PMID 25515960.
- ↑ Kawamura, Machiko; et al. (2015-07). "Identification of SPAG9 as a novel JAK2 fusion partner gene in pediatric acute lymphoblastic leukemia with t(9;17)(p24;q21)". Genes, Chromosomes & Cancer. 54 (7): 401–408. doi:10.1002/gcc.22251. ISSN 1098-2264. PMID 25951811. Check date values in:
|date=(help) - ↑ Poitras, Jennifer L.; et al. (2008-10). "Novel SSBP2-JAK2 fusion gene resulting from a t(5;9)(q14.1;p24.1) in pre-B acute lymphocytic leukemia". Genes, Chromosomes & Cancer. 47 (10): 884–889. doi:10.1002/gcc.20585. ISSN 1098-2264. PMID 18618714. Check date values in:
|date=(help) - ↑ Roberts, Kathryn G.; et al. (2012-08-14). "Genetic alterations activating kinase and cytokine receptor signaling in high-risk acute lymphoblastic leukemia". Cancer Cell. 22 (2): 153–166. doi:10.1016/j.ccr.2012.06.005. ISSN 1878-3686. PMC 3422513. PMID 22897847.
- ↑ Steeghs, Elisabeth M. P.; et al. (2017-10-27). "JAK2 aberrations in childhood B-cell precursor acute lymphoblastic leukemia". Oncotarget. 8 (52): 89923–89938. doi:10.18632/oncotarget.21027. ISSN 1949-2553. PMC 5685720. PMID 29163799.
- ↑ Kobayashi, Kenichiro; et al. (2014-06). "ATF7IP as a novel PDGFRB fusion partner in acute lymphoblastic leukaemia in children". British Journal of Haematology. 165 (6): 836–841. doi:10.1111/bjh.12834. ISSN 1365-2141. PMID 24628626. Check date values in:
|date=(help) - ↑ Ishibashi, Takeshi; et al. (2016-03). "Ph-like ALL-related novel fusion kinase ATF7IP-PDGFRB exhibits high sensitivity to tyrosine kinase inhibitors in murine cells". Experimental Hematology. 44 (3): 177–188.e5. doi:10.1016/j.exphem.2015.11.009. ISSN 1873-2399. PMID 26703895. Check date values in:
|date=(help) - ↑ Zhang, Ge; et al. (2017-11-14). "Acute Lymphoblastic Leukemia Patient with Variant ATF7IP/PDGFRB Fusion and Favorable Response to Tyrosine Kinase Inhibitor Treatment: A Case Report". The American Journal of Case Reports. 18: 1204–1208. doi:10.12659/ajcr.906300. ISSN 1941-5923. PMC 5700447. PMID 29133777.
- ↑ Schwab, Claire; et al. (2016-05-05). "EBF1-PDGFRB fusion in pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL): genetic profile and clinical implications". Blood. 127 (18): 2214–2218. doi:10.1182/blood-2015-09-670166. ISSN 1528-0020. PMID 26872634.
- ↑ Shago, Mary; et al. (2016-11). "Frequency and outcome of pediatric acute lymphoblastic leukemia with ZNF384 gene rearrangements including a novel translocation resulting in an ARID1B/ZNF384 gene fusion". Pediatric Blood & Cancer. 63 (11): 1915–1921. doi:10.1002/pbc.26116. ISSN 1545-5017. PMID 27392123. Check date values in:
|date=(help) - ↑ 34.0 34.1 34.2 34.3 Hirabayashi, Shinsuke; et al. (2017-01). "ZNF384-related fusion genes define a subgroup of childhood B-cell precursor acute lymphoblastic leukemia with a characteristic immunotype". Haematologica. 102 (1): 118–129. doi:10.3324/haematol.2016.151035. ISSN 1592-8721. PMC 5210242. PMID 27634205. Check date values in:
|date=(help) - ↑ 35.0 35.1 Liu, Yuan-Fang; et al. (2016-06). "Genomic Profiling of Adult and Pediatric B-cell Acute Lymphoblastic Leukemia". EBioMedicine. 8: 173–183. doi:10.1016/j.ebiom.2016.04.038. ISSN 2352-3964. PMC 4919728. PMID 27428428. Check date values in:
|date=(help) - ↑ Gocho, Y.; et al. (2015-12). "A novel recurrent EP300-ZNF384 gene fusion in B-cell precursor acute lymphoblastic leukemia". Leukemia. 29 (12): 2445–2448. doi:10.1038/leu.2015.111. ISSN 1476-5551. PMID 25943178. Check date values in:
|date=(help) - ↑ Martini, Alessandra; et al. (2002-10-01). "Recurrent rearrangement of the Ewing's sarcoma gene, EWSR1, or its homologue, TAF15, with the transcription factor CIZ/NMP4 in acute leukemia". Cancer Research. 62 (19): 5408–5412. ISSN 0008-5472. PMID 12359745.
- ↑ Nyquist, Kaja Beate; et al. (2011-03). "Identification of the TAF15-ZNF384 fusion gene in two new cases of acute lymphoblastic leukemia with a t(12;17)(p13;q12)". Cancer Genetics. 204 (3): 147–152. doi:10.1016/j.cancergen.2011.01.003. ISSN 2210-7762. PMID 21504714. Check date values in:
|date=(help) - ↑ Suzuki, Kyogo; et al. (2016-10-01). "MEF2D-BCL9 Fusion Gene Is Associated With High-Risk Acute B-Cell Precursor Lymphoblastic Leukemia in Adolescents". Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology. 34 (28): 3451–3459. doi:10.1200/JCO.2016.66.5547. ISSN 1527-7755. PMID 27507882.
- ↑ Ohki, Kentaro; et al. (2019-01). "Clinical and molecular characteristics of MEF2D fusion-positive B-cell precursor acute lymphoblastic leukemia in childhood, including a novel translocation resulting in MEF2D-HNRNPH1 gene fusion". Haematologica. 104 (1): 128–137. doi:10.3324/haematol.2017.186320. ISSN 1592-8721. PMC 6312004. PMID 30171027. Check date values in:
|date=(help)