View source for B-ALL Tables: Prognostic Genomic Abnormalities and Recurrent Gene Fusions

'''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"
|'''Subtype'''
|'''3’ Partner'''
|'''5’ Partner'''
|'''Chromosome rearrangement'''
|'''Gene fusion'''
|'''Visible by G-banding'''
|'''References'''
|'''Comment'''
|-
| rowspan="63" |'''Ph-like'''

'''B-ALL'''
| rowspan="12" |'''''[[ABL1]]'''''
(9q34)
|''[[CENPC1]]''
|t(4;9)(q13;q34)
|''CENPC1-ABL1''
|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
|-
|''[[ETV6]]''
|t(9;12)(q34;p13)
|''ETV6-ABL1''
|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
|-
|''[[FOXP1]]''
|t(3;9)(p13;q34)
|''FOXP1-ABL1'' on der(3)
|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]]''
|t(9;19)(q34;q13.1)
|''LSM14A-ABL1'' on der(19)
|YES
|<ref name=":0" />
|
|-
|''[[NUP153]]''
|t(6;9)(p22.3;q34)
|''NUP153-ABL1'' on der(6)
|YES
|<ref name=":0" />
|
|-
|''[[NUP214]]''
|dup(9)(q34.1q34.1)
|''NUP214-ABL1''
|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
|-
|''[[RANBP2]]''
|t(2;9)(q12.3;q34)
|''RANBP-ABL1'' on der(2)
|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]]''
|t(1;9)(q24.2;q34)
|''RCSD1-ABL1'' on der(1)
|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]]''
|t(1;9)(p34.3;q34)
|''SFPQ-ABL1'' on der(1)
|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]]''
|t(9;15)(q34;q22.3)
|''SNX1-ABL1'' on der(15)
|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]]''
|t(5;9)(q23.2;q34)
|''SNX2-ABL1'' on der(5)
|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]]''
|t(9;10)(q34;q22.3)
|''ZMIZ1-ABL1'' on der(10)
|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)
|''[[PAG1]]''
|t(1;8)(q25.2;q21.1)
|''PAG1-ABL2'' on der(1)
|YES
|<ref name=":1" />
|
|-
|''[[RCSD1]]''
|1q24.2q25.2 rearrangement
|''RCSD1-ABL2''
|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
|-
|''[[ZC3HAV1]]''
|t(1;7)(q25.2;q34)
|''ZC3HAV1-ABL2'' on der(1)
|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]]'''''

(Xp22.3 & Yp11.3)
|''[[IGH]]''
|t(X;14)(p22.3;q32) or

t(Y;14)(p11.3;q32)
|''IGH/CRLF2''
|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]]''
|del(X)(p22.3p22.3) or del(Y)(p11.3p11.3)
|''P2RY8-CRLF2''
|NO
|<ref name=":3" /> <ref name=":1" />
|
|-
| rowspan="3" |'''''[[CSF1R]]'''''
(5q32)
|''[[MEF2D]]''
|t(1;5)(q22;q32)
|''MEF2D-CSF1R'' on der(5)
|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]]''
|5q14.1q32 rearrangement
|''SSBP2-CSF1R''
|YES
|<ref name=":0" />
|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
|<ref name=":0" />
|
|-
|'''''[[DGKH]]''''' (13q14.1)
|''[[ZFAND3]]''
|t(6;13)(p21.2;q14.1)
|''ZFAND3-DGKH''
|YES
|<ref name=":1" />
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms
|-
| rowspan="4" |'''''[[EPOR]]''''' (19p13.2)
|''[[IGH]]''
|ins(14;19)(q32;p13.2p13.2)
|''IGH/EPOR''
|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]]''
|ins(2;19)(p11.2;p13.2p13.2)
|''IGK/EPOR''
|Cryptic insertion
|<ref name=":5" />
|
|-
|''[[LAIR1]]''
|inv(19)(p13.2q13.42)
|''LAIR1-EPOR''
|NO
|<ref name=":5" />
|Inversion of chromosome 19 juxtaposes ''EPOR'' to the upstream region of ''LAIR1''
|-
|''[[THADA]]''
|t(2;19)(p21;p13.2)
|''THADA-EPOR''
|YES
|<ref name=":2" />
|
|-
|'''''[[IL2RB]]''''' (22q12.3)
|''[[MYH9]]''
|22q12.3 rearrangement
|''MYH9-IL2RB''
|NO
|<ref name=":1" />
|On the same chromosome arm; however, a simple deletion cannot cause the fusion due to the orientation of genes
|-
| rowspan="22" |'''''[[JAK2]]'''''
(9p24.1)

|''[[ATF7IP]]''
|t(9;12)(p24.1;p13.1)
|''ATF7IP-JAK2'' on der(9)
|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]]''
|t(9;22)(p24.1;q11.2)
|''BCR-JAK2''
|? 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
|-
|''[[EBF1]]''
|t(5;9)(q33.3;p24.1)
|''EBF1-JAK2'' on der(9)
|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]]''
|t(9;12)(p24.1;p13.2)
|''ETV6-JAK2'' on der(9)
|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]]''
|t(9;14)(p24.1;q32.1)
|''GOLGA5-JAK2''
|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
|-
|''[[HMBOX1]]''
|t(8;9)(p21.1;p24.1)
|''HMBOX1-JAK2'' on der(9)
|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]]''
|t(X;9)(p22.2;p24.1)
|''OFD1-JAK2'' on der(9)
|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]]''
|inv(9)(p13.2p24.1)
|''PAX5-JAK2''
|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
|-
|''[[PCM1]]''
|t(8;9)(p22;p24.1)
|''PCM1-JAK2'' on der(9)
|YES (SUBTLE)
|<ref name=":2" />
|Seen also in myeloid/lymphoid neoplasms with eosinophilia
|-
|''[[PPFIBP1]]''
|t(9;12)(p24.1;p11.2)
|''PPFIBP1-JAK2'' on der(9)
|YES
|<ref name=":2" />
|
|-
|''[[RFX3]]''
|inv(9)(p24.1p24.2)
|''RFX3-JAK2''
|NO
|<ref name=":0" />
|An inversion is required as genes are oriented in opposite directions
|-
|''[[SMU1]]''
|inv(9)(p21.1p24.1)
|''SMU1-JAK2''
|NO
|<ref name=":7" />
|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
|<ref name=":7" />
|
|-
|''[[SPAG9]]''
|t(9;17)(p24.1;q21.3)
|''SPAG9-JAK2'' on der(9)
|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]]''
|t(5;9)(q14.1;p24.1)
|''SSBP2-JAK2'' on der(9)
|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]]''
|t(9;14)(p24.1;q12)
|''STRN3-JAK2'' on der(9)
|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]]''
|t(9;16)(p24.1;q22.1)
|''TERF2-JAK2'' on der(9)
|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]]''
|t(1;9)(q31.1;p24.1)
|''TPR-JAK2'' on der(9)
|YES
|<ref name=":1" />
|
|-
|''[[USP25]]''
|t(9;21)(p24.1;q21.1)
|''USP25-JAK2''
|? YES
|<ref name=":0" />
|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
|<ref name=":2" />
|
|-
|''[[ZNF274]]''
|t(9;19)(p24.1;q13.4)
|''ZNF274-JAK2''
|NO
|<ref name=":0" />
|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
|<ref name=":2" />
|
|-
|'''''[[PDGFRA]]'''''

(4q12)
|''[[FIP1L1]]''
|del(4)(q12q12)
|''FIP1L1-PDGFRA''
|NO
|<ref name=":7" />
|Interstitial deletion. Seen also in myeloid/lymphoid neoplasms with eosinophilia
|-
| rowspan="8" |'''''[[PDGFRB]]''''' (5q32)
|''[[ATF7IP]]''
|t(5;12)(q32;p13.1)
|''ATF7IP-PDGFRB'' on der(5)
|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]]''
|del(5)(q32q33.3)
|''EBF1-PDGFRB''
|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
|-
|''[[ETV6]]''
|t(5;12)(q32;p13.2)
|''ETV6-PDGFRB'' on der(5)
|YES
|<ref name=":2" />
|
|-
|''[[SNX29]]''
|t(5;16)(q32;p13.1)
|''SNX29-PDGFRB'' on der(5)
|YES
|<ref name=":2" />
|
|-
|''[[SSBP2]]''
|t(5;5)(q14.1;q32)
|''SSBP2-PDGFRB''
|? YES
|<ref name=":2" />
|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
|<ref name=":2" />
|Interstitial deletion. Seen also in myeloid/lymphoid neoplasms with eosinophilia
|-
|''[[ZEB2]]''
|t(2;5)(q22.3;q32)
|''ZEB2-PDGFRB'' on der(5)
|YES
|<ref name=":1" />
|
|-
|''[[ZMYND8]]''
|t(5;20)(q32;q13.1)
|''ZMYND8-PDGFRB'' on der(5)
|YES
|<ref name=":0" />
|
|-
| rowspan="3" |'''''[[PTK2B]]''''' (8p21.2)
|''[[KDM6A]]''
|t(X;8)(p11.3;p21.2)
|''KDM6A-PTK2B'' on der(8)
|YES
|<ref name=":1" />
|
|-
|''[[STAG2]]''
|t(X;8)(q25;p21.2)
|''STAG2-PTK2B''
|YES
|<ref name=":1" />
|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
|<ref name=":2" />
|
|-
| rowspan="3" |'''''[[TYK2]]''''' (19p13.2)
|''[[MYB]]''
|t(6;19)(q23.3;p13.2)
|''MYB-TYK2'' on der(6)
|YES
|<ref name=":6" />
|
|-
|''[[SMARCA4]]''
|inv(19)(p13.2p13.2)
|''SMARCA4-TYK2''
|NO
|<ref name=":2" />
|
|-
|''[[ZNF340]]''
|t(19;20)(p13.2;q13.3)
|''ZNF340-TYK2''
|NO
|<ref name=":2" />
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms
|-
| rowspan="9" |'''''ZNF384-''rearranged B-ALL'''
| rowspan="9" |'''''[[ZNF384]]''''' (12p13.3) '' ''
|''[[ARID1B]]''
|t(6;12)(q25.3;p13.3)
|''ARID1B-ZNF384''  on der(6)
|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]]''
|t(4;12)(q21.2;p13.3)
|''BMP2K-ZNF384''  on der(4)
|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]]''
|t(12;16)(p13.3;p13.3)
|''CREBBP-ZNF384'' on der(16)
|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]]''
|t(12;22)(p13.3;q13.2)
|''EP300-ZNF384'' on der(22)
|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]]''
|t(12;22)(p13.3;q12.2)
|''EWSR1-ZNF384'' on der(22)
|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]]''
|t(9;12)(p24.3;p13.3)
|''SMARCA2-ZNF384''
|No
|<ref name=":4" />
|Requires complex rearrangement due to incompatible orientation of genes with respect to chromosome arms
|-
|''[[SYNRG]]''
|t(12;17)(p13.3;q12)
|''SYNGR-ZNF384''
|YES
|<ref name=":8" />
|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
|<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]]''
|t(12;19)(p13.3;p13.3)
|''TCF3-ZNF384'' on der(19)
|NO
|<ref name=":8" />
|
|-
| rowspan="6" |'''''MEF2D-''rearranged B-ALL'''
| rowspan="6" |'''''[[MEF2D]]'''''
(1q22)
|''[[BCL9]]''
|inv(1)(q21.2q22)
|''MEF2D-BCL9''
|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]]''
|t(1;5)(q22;q32)
|''MEF2D-CSF1R'' on der(5)
|YES
|<ref name=":4" />
|
|-
|''[[FOXJ2]]''
|t(1;12)(q22;p13.3)
|''MEF2D-FOXJ2'' on der(12)
|YES
|<ref name=":4" />
|
|-
|''[[HNRNPH1]]''
|t(1;5)(q22;q35.3)
|''MEF2D-HNRNPH1'' on der(5)
|YES
|<ref name=":4" />
|
|-
|''[[HNRNPUL1]]''
|t(1;19)(q22;q13.2)
|''MEF2D-HNRNPUL1''
|? 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
|-
|''[[SS18]]''
|t(1;18)(q22;q11.2)
|''MEF2D-SS18'' on der(18)
|YES
|<ref name=":4" />
|
|}

==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.<references />