Difference between revisions of "Plasma Cell Neoplasms Tables: Recurrent Cytogenomic Alterations"
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+ | '''Table 1 - Clinically significant cytogenomic alterations in plasma cell myeloma (Literature Review)'''. Summary table reviewing 65 papers applying FISH, CMA, NGS, and gene expression profiling for PCN diagnosis and prognosis. See Table 2 for references and Level 3 evidence. Table derived from Pugh et al., 2018 [PMID 30393007] with permission from Cancer Genetics. | ||
+ | {| class="wikitable" | ||
+ | |'''Evidence Level''' | ||
+ | |'''Chromosomal Abnormality''' | ||
+ | |'''Significance''' | ||
+ | |'''Genes''' | ||
+ | |- | ||
+ | | rowspan="11" |'''Level 1''' | ||
+ | |||
+ | well established evidence in NCCN guideline, | ||
+ | |||
+ | WHO criteria, FDA-approved, COG | ||
+ | |||
+ | recommendation, or based on large body of publications. | ||
+ | |Hyperdiploidy (+3, +5, +7, +9, +11, +15, +21) | ||
+ | |Good prognosis | ||
+ | | | ||
+ | |- | ||
+ | |t(4;14) | ||
+ | |Poor prognosis, predicts bortezomib response | ||
+ | |''[[IGH]]'' | ||
+ | |- | ||
+ | |t(6;14) | ||
+ | |Good prognosis | ||
+ | |''[[IGH]]'' | ||
+ | |- | ||
+ | |t(14;16) | ||
+ | |Poor prognosis | ||
+ | |''[[IGH]]'' | ||
+ | |- | ||
+ | |t(11;14) | ||
+ | |Good prognosis | ||
+ | |''[[IGH]]'' | ||
+ | |- | ||
+ | |t(14;20) | ||
+ | |Poor prognosis | ||
+ | | | ||
+ | |- | ||
+ | |del(1p) | ||
+ | |Poor prognosis | ||
+ | | | ||
+ | |- | ||
+ | |1q+ | ||
+ | |Poor prognosis | ||
+ | | | ||
+ | |- | ||
+ | |del(13q) | ||
+ | |Poor prognosis | ||
+ | | | ||
+ | |- | ||
+ | |16q | ||
+ | |Poor prognosis | ||
+ | | | ||
+ | |- | ||
+ | |del(17p) | ||
+ | |Poor prognosis (Level 1), predicts response (Level 2) | ||
+ | | | ||
+ | |- | ||
+ | | rowspan="27" |'''Level 2''' | ||
+ | |||
+ | emerging evidence by one large study or multiple case reports | ||
+ | |1p CN-LOH | ||
+ | |Recurrent | ||
+ | | | ||
+ | |- | ||
+ | |<nowiki>+2</nowiki> | ||
+ | |Recurrent | ||
+ | | | ||
+ | |- | ||
+ | |del(4q) | ||
+ | |Recurrent | ||
+ | | | ||
+ | |- | ||
+ | |del(5p), 5q+, del(5q) | ||
+ | |Recurrent | ||
+ | | | ||
+ | |- | ||
+ | |6p+ | ||
+ | |Recurrent | ||
+ | | | ||
+ | |- | ||
+ | |del(6q) | ||
+ | |Recurrent | ||
+ | | | ||
+ | |- | ||
+ | |7q+ | ||
+ | |Recurrent | ||
+ | | | ||
+ | |- | ||
+ | |del(8p) | ||
+ | |Recurrent | ||
+ | | | ||
+ | |- | ||
+ | |8q24.2+ | ||
+ | |Recurrent | ||
+ | |''[[MYC]]'' | ||
+ | |- | ||
+ | |9p+ | ||
+ | |Recurrent | ||
+ | | | ||
+ | |- | ||
+ | |del(10q23.31) | ||
+ | |Recurrent | ||
+ | |''[[PTEN]]'' | ||
+ | |- | ||
+ | |11q+ | ||
+ | |Recurrent | ||
+ | | | ||
+ | |- | ||
+ | |del(12p) or 12p CN-LOH | ||
+ | |Recurrent | ||
+ | | | ||
+ | |- | ||
+ | |del(13q32.2) | ||
+ | |Recurrent | ||
+ | |''[[TGDS]]'' | ||
+ | |- | ||
+ | |del(14q) | ||
+ | |Good prognosis | ||
+ | | | ||
+ | |- | ||
+ | | 14q CN-LOH | ||
+ | |Recurrent | ||
+ | | | ||
+ | |- | ||
+ | |16 CN-LOH | ||
+ | |Recurrent | ||
+ | | | ||
+ | |- | ||
+ | |17 CN-LOH | ||
+ | |Recurrent | ||
+ | | | ||
+ | |- | ||
+ | |17q25+ | ||
+ | |Recurrent | ||
+ | | | ||
+ | |- | ||
+ | |<nowiki>+18</nowiki> | ||
+ | |Recurrent | ||
+ | | | ||
+ | |- | ||
+ | |<nowiki>+19, 19q+</nowiki> | ||
+ | |Recurrent | ||
+ | | | ||
+ | |- | ||
+ | |del(20p) | ||
+ | |Recurrent | ||
+ | | | ||
+ | |- | ||
+ | |<nowiki>+20, 20q+</nowiki> | ||
+ | |Recurrent | ||
+ | | | ||
+ | |- | ||
+ | |del(22) | ||
+ | |Recurrent | ||
+ | | | ||
+ | |- | ||
+ | |22q21+ | ||
+ | |Associated with relapse | ||
+ | |''[[PRAME]]'' | ||
+ | |- | ||
+ | |del(X), X+, X CN-LOH | ||
+ | |Recurrent | ||
+ | | | ||
+ | |- | ||
+ | |Xq+ in males | ||
+ | |Poor prognosis | ||
+ | | | ||
+ | |} | ||
+ | |||
+ | |||
+ | '''Table 2 - Recurrent Abnormalities of copy number aberration (CNAs) and copy-neutral loss-of-heterozygosity (cnLOH) in plasma cell myeloma (Literature Review)'''. Table derived from Pugh et al., 2018 [PMID 30393007] with permission from Cancer Genetics. | ||
{| class="wikitable" | {| class="wikitable" | ||
|'''Chromosome''' | |'''Chromosome''' | ||
Line 6: | Line 178: | ||
|'''Significance (Recurrent, Diagnostic, Prognostic, Targeted treatment)''' | |'''Significance (Recurrent, Diagnostic, Prognostic, Targeted treatment)''' | ||
|'''Strength of Evidence (Level 1, 2, 3, see legend below table for criteria)''' | |'''Strength of Evidence (Level 1, 2, 3, see legend below table for criteria)''' | ||
− | |'''References | + | |'''References''' |
|- | |- | ||
| rowspan="9" |1 | | rowspan="9" |1 | ||
|1p32 | |1p32 | ||
|Loss | |Loss | ||
− | |''FAF1, CDKN2C'' | + | |''[[FAF1]], [[CDKN2C]]'' |
|Poor prognostic marker | |Poor prognostic marker | ||
|1, 2 | |1, 2 | ||
− | |<ref name=":0">{{Cite journal|last=B|first=Hebraud|last2=F|first2=Magrangeas|last3=A|first3=Cleynen|last4=V|first4=Lauwers-Cances|last5=Ml|first5=Chretien|last6=C|first6=Hulin|last7=X|first7=Leleu|last8=E|first8=Yon|last9=G|first9=Marit|date=2015|title=Role of additional chromosomal changes in the prognostic value of t(4;14) and del(17p) in multiple myeloma: the IFM experience|url=https://pubmed.ncbi.nlm.nih.gov/25636340/|language=en|doi=10.1182/blood-2014-07-587964|pmc=PMC4375107|pmid=25636340}}</ref> | + | |<ref name=":0">{{Cite journal|last=B|first=Hebraud|last2=F|first2=Magrangeas|last3=A|first3=Cleynen|last4=V|first4=Lauwers-Cances|last5=Ml|first5=Chretien|last6=C|first6=Hulin|last7=X|first7=Leleu|last8=E|first8=Yon|last9=G|first9=Marit|date=2015|title=Role of additional chromosomal changes in the prognostic value of t(4;14) and del(17p) in multiple myeloma: the IFM experience|url=https://pubmed.ncbi.nlm.nih.gov/25636340/|language=en|doi=10.1182/blood-2014-07-587964|pmc=PMC4375107|pmid=25636340}}</ref> <ref name=":1">{{Cite journal|last=J|first=Smetana|last2=J|first2=Frohlich|last3=R|first3=Zaoralova|last4=V|first4=Vallova|last5=H|first5=Greslikova|last6=R|first6=Kupska|last7=P|first7=Nemec|last8=A|first8=Mikulasova|last9=M|first9=Almasi|date=2014|title=Genome-wide screening of cytogenetic abnormalities in multiple myeloma patients using array-CGH technique: a Czech multicenter experience|url=https://pubmed.ncbi.nlm.nih.gov/24987674/|language=en|doi=10.1155/2014/209670|pmc=PMC4060785|pmid=24987674}}</ref> <ref name=":2">{{Cite journal|last=M|first=Kim|last2=Sh|first2=Lee|last3=J|first3=Kim|last4=Se|first4=Lee|last5=Yj|first5=Kim|last6=Ck|first6=Min|date=2015|title=Copy number variations could predict the outcome of bortezomib plus melphalan and prednisone for initial treatment of multiple myeloma|url=https://pubmed.ncbi.nlm.nih.gov/25145975/|language=en|pmid=25145975}}</ref> |
|- | |- | ||
|1p22.2-p22.1 | |1p22.2-p22.1 | ||
|Loss | |Loss | ||
− | |''BARHL2, TGFBR3, and others; HSP90B3P, TGFER3, BRDT, EPHAX4, BTBD8'' | + | |''[[BARHL2]], [[TGFBR3]], and others; [[HSP90B3P]], [[TGFER3]], [[BRDT]], [[EPHAX4]], [[BTBD8]]'' |
|Prognostic | |Prognostic | ||
|1, 3 | |1, 3 | ||
− | | | + | |<ref name=":1" /> <ref name=":2" /> <ref name=":3">{{Cite journal|last=E|first=Kjeldsen|date=2016|title=Identification of Prognostically Relevant Chromosomal Abnormalities in Routine Diagnostics of Multiple Myeloma Using Genomic Profiling|url=https://pubmed.ncbi.nlm.nih.gov/26912802/|language=en|pmid=26912802}}</ref> |
|- | |- | ||
|1p21.3 | |1p21.3 | ||
|Loss | |Loss | ||
− | |''SNX7'' | + | |''[[SNX7]]'' |
|Recurrent | |Recurrent | ||
|2 | |2 | ||
− | | | + | |<ref name=":4">{{Cite journal|last=N|first=Bolli|last2=H|first2=Avet-Loiseau|last3=Dc|first3=Wedge|last4=P|first4=Van Loo|last5=Lb|first5=Alexandrov|last6=I|first6=Martincorena|last7=Kj|first7=Dawson|last8=F|first8=Iorio|last9=S|first9=Nik-Zainal|date=2014|title=Heterogeneity of genomic evolution and mutational profiles in multiple myeloma|url=https://pubmed.ncbi.nlm.nih.gov/24429703/|language=en|doi=10.1038/ncomms3997|pmc=PMC3905727|pmid=24429703}}</ref> |
|- | |- | ||
|1p13.2 | |1p13.2 | ||
|Loss | |Loss | ||
− | | | + | |''[[MAGI3]]'', BCL2 like and others |
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":5">{{Cite journal|last=T|first=Boneva|last2=D|first2=Brazma|last3=K|first3=Gancheva|last4=J|first4=Howard-Reeves|last5=J|first5=Raynov|last6=C|first6=Grace|last7=Ep|first7=Nacheva|date=2014|title=Can genome array screening replace FISH as a front-line test in multiple myeloma?|url=https://pubmed.ncbi.nlm.nih.gov/24757046/|language=en|pmid=24757046}}</ref> |
|- | |- | ||
|1p12 | |1p12 | ||
|Loss | |Loss | ||
− | |''MAN1A2, FAM46C, GDAP2'' | + | |''[[MAN1A2]], [[FAM46C]], [[GDAP2]]'' |
|Recurrent | |Recurrent | ||
− | |2 | + | | 2 |
− | |<ref name=":0" /> | + | |<ref name=":0" /> <ref name=":1" /> |
|- | |- | ||
|1p | |1p | ||
Line 49: | Line 221: | ||
|Recurrent | |Recurrent | ||
|2 | |2 | ||
− | | | + | |<ref name=":2" /> |
|- | |- | ||
|1p | |1p | ||
Line 56: | Line 228: | ||
|Recurrent | |Recurrent | ||
|1 | |1 | ||
− | | | + | |<ref name=":1" /> <ref name=":5" /> <ref name=":6">{{Cite journal|last=Bk|first=Zehentner|last2=L|first2=Hartmann|last3=Kr|first3=Johnson|last4=Cf|first4=Stephenson|last5=Db|first5=Chapman|last6=Me|first6=de Baca|last7=Da|first7=Wells|last8=Mr|first8=Loken|last9=B|first9=Tirtorahardjo|date=2012|title=Array-based karyotyping in plasma cell neoplasia after plasma cell enrichment increases detection of genomic aberrations|url=https://pubmed.ncbi.nlm.nih.gov/23010713/|language=en|pmid=23010713}}</ref> <ref name=":7">{{Cite journal|last=M|first=Stevens-Kroef|last2=Do|first2=Weghuis|last3=S|first3=Croockewit|last4=L|first4=Derksen|last5=J|first5=Hooijer|last6=N|first6=Elidrissi-Zaynoun|last7=A|first7=Siepman|last8=A|first8=Simons|last9=Ag|first9=Kessel|date=2012|title=High detection rate of clinically relevant genomic abnormalities in plasma cells enriched from patients with multiple myeloma|url=https://pubmed.ncbi.nlm.nih.gov/22833442/|language=en|pmid=22833442}}</ref> <ref name=":8">{{Cite journal|last=N|first=Bolli|last2=Y|first2=Li|last3=V|first3=Sathiaseelan|last4=K|first4=Raine|last5=D|first5=Jones|last6=P|first6=Ganly|last7=F|first7=Cocito|last8=G|first8=Bignell|last9=Ma|first9=Chapman|date=2016|title=A DNA target-enrichment approach to detect mutations, copy number changes and immunoglobulin translocations in multiple myeloma|url=https://pubmed.ncbi.nlm.nih.gov/27588520/|language=en|doi=10.1038/bcj.2016.72|pmc=PMC5056967|pmid=27588520}}</ref> |
|- | |- | ||
|1q21.2-q23 | |1q21.2-q23 | ||
|Gain | |Gain | ||
− | |''CKS1B'' and ''ANP32E'' | + | |''[[CKS1B]]'' and ''[[ANP32E]]'' |
|Recurrent | |Recurrent | ||
− | |1 | + | | 1 |
− | | | + | |<ref name=":1" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" /> <ref name=":8" /> |
|- | |- | ||
|1q | |1q | ||
− | |Gain | + | | Gain |
| | | | ||
|Poor prognostic marker | |Poor prognostic marker | ||
|1 | |1 | ||
− | | | + | |<ref name=":1" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" /> |
|- | |- | ||
| rowspan="2" |2 | | rowspan="2" |2 | ||
Line 78: | Line 250: | ||
|Recurrent | |Recurrent | ||
|2 | |2 | ||
− | | | + | |<ref name=":7" /> |
|- | |- | ||
|2q | |2q | ||
Line 85: | Line 257: | ||
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":6" /> |
|- | |- | ||
| rowspan="2" |3 | | rowspan="2" |3 | ||
Line 93: | Line 265: | ||
|Recurrent | |Recurrent | ||
|1 | |1 | ||
− | | | + | |<ref name=":1" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" /> |
|- | |- | ||
|3q21-23 | |3q21-23 | ||
Line 100: | Line 272: | ||
|Recurrent | |Recurrent | ||
|2 | |2 | ||
− | | | + | |<ref name=":2" /> |
|- | |- | ||
| rowspan="3" |4 | | rowspan="3" |4 | ||
|4p16.3 | |4p16.3 | ||
|Loss | |Loss | ||
− | |''FGFR3'' and ''WHSC1'' | + | |''[[FGFR3]]'' and ''[[WHSC1]]'' |
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":1" /> |
|- | |- | ||
|4p15.2 | |4p15.2 | ||
|Loss | |Loss | ||
− | |''LGI2, SEPSECS, PI4K2B'' and others | + | |''[[LGI2]], [[SEPSECS]], [[PI4K2B]]'' and others |
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":1" /> |
|- | |- | ||
|4q35.1 | |4q35.1 | ||
|Loss | |Loss | ||
− | |''DCTD, ING2 | + | |''[[DCTD]], [[ING2]]'' and others |
|Recurrent | |Recurrent | ||
|2 | |2 | ||
− | | | + | |<ref name=":3" /> |
|- | |- | ||
| rowspan="6" |5 | | rowspan="6" |5 | ||
|5 | |5 | ||
− | |Gain | + | | Gain |
| | | | ||
|Recurrent | |Recurrent | ||
|1 | |1 | ||
− | | | + | |<ref name=":1" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" /> <ref name=":8" /> |
|- | |- | ||
|5p | |5p | ||
Line 137: | Line 309: | ||
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":1" /> |
|- | |- | ||
|5p | |5p | ||
Line 144: | Line 316: | ||
|Recurrent | |Recurrent | ||
|2 | |2 | ||
− | | | + | |<ref name=":7" /> |
|- | |- | ||
|5p14.3 | |5p14.3 | ||
|Gain | |Gain | ||
− | |''CDH12 | + | |''[[CDH10]], [[CDH12]]'' |
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":5" /> |
|- | |- | ||
|5q | |5q | ||
Line 157: | Line 329: | ||
| | | | ||
|Recurrent | |Recurrent | ||
− | |2 | + | | 2 |
− | | | + | |<ref name=":1" /> <ref name=":2" /> |
|- | |- | ||
|5q13.2 | |5q13.2 | ||
|Loss | |Loss | ||
− | |''OCLN, NAIP'' | + | |''[[OCLN]], [[NAIP]]'' and others |
− | |Recurrent | + | | Recurrent |
|2 | |2 | ||
− | | | + | |<ref name=":3" /> |
|- | |- | ||
− | | rowspan=" | + | | rowspan="6" |6 |
|6p | |6p | ||
|Gain | |Gain | ||
Line 173: | Line 345: | ||
|Recurrent | |Recurrent | ||
|2 | |2 | ||
− | | | + | |<ref name=":0" /> <ref name=":1" /> <ref name=":7" /> |
|- | |- | ||
|6pter-p22.3 | |6pter-p22.3 | ||
Line 180: | Line 352: | ||
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":1" /> |
|- | |- | ||
|6q | |6q | ||
Line 187: | Line 359: | ||
|Poor prognostic marker | |Poor prognostic marker | ||
|2 | |2 | ||
− | | | + | |<ref name=":0" /> <ref name=":1" /> <ref name=":2" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" /> |
|- | |- | ||
|6q11.1-q13 | |6q11.1-q13 | ||
|Gain | |Gain | ||
− | |''MTRNR2L9'' | + | |''[[MTRNR2L9]]'' |
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":3" /> |
|- | |- | ||
|6q16.3 | |6q16.3 | ||
|Loss | |Loss | ||
− | |''COQR, GRIK2'' | + | |''[[COQR]], [[GRIK2]]'' |
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":1" /> |
|- | |- | ||
|6q25.3 | |6q25.3 | ||
|Loss | |Loss | ||
− | |''IGFR3'' | + | |''[[IGFR3]]'' |
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":5" /> |
− | |||
− | |||
− | |||
− | |||
− | |||
− | |||
− | |||
|- | |- | ||
| rowspan="4" |7 | | rowspan="4" |7 | ||
Line 223: | Line 388: | ||
|Recurrent | |Recurrent | ||
|1 | |1 | ||
− | | | + | |<ref name=":1" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" /> |
|- | |- | ||
|7p | |7p | ||
Line 230: | Line 395: | ||
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":1" /> |
|- | |- | ||
|7p15.2 | |7p15.2 | ||
|Gain | |Gain | ||
− | |''CBX3, etc | + | |''[[CBX3]]'', etc |
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":3" /> |
|- | |- | ||
|7q | |7q | ||
Line 244: | Line 409: | ||
|Recurrent | |Recurrent | ||
|2 | |2 | ||
− | | | + | |<ref name=":1" /> <ref name=":2" /> |
|- | |- | ||
| rowspan="6" |8 | | rowspan="6" |8 | ||
Line 252: | Line 417: | ||
|Recurrent | |Recurrent | ||
|2 | |2 | ||
− | | | + | |<ref name=":0" /> <ref name=":1" /> <ref name=":2" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" /> |
|- | |- | ||
− | |8p23.1 | + | | 8p23.1 |
|Loss | |Loss | ||
− | |''DEFB4'' and others | + | |''[[DEFB4]]'' and others |
|Recurrent | |Recurrent | ||
|2 | |2 | ||
− | | | + | |<ref name=":3" /> |
|- | |- | ||
|8p21.3/p21.2 | |8p21.3/p21.2 | ||
|Loss | |Loss | ||
− | |''TNFRSF10B, DOCK5'' and others | + | |''[[TNFRSF10B]], [[DOCK5]]'' and others |
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":5" /> |
|- | |- | ||
|8q | |8q | ||
Line 272: | Line 437: | ||
| | | | ||
|Recurrent | |Recurrent | ||
− | |3 | + | | 3 |
− | | | + | |<ref name=":1" /> |
|- | |- | ||
|8q24.2 | |8q24.2 | ||
|Gain/amplification and Loss | |Gain/amplification and Loss | ||
− | |''MYC'' | + | |''[[MYC]]'' |
|Recurrent | |Recurrent | ||
|2 | |2 | ||
− | | | + | |<ref name=":1" /> <ref name=":5" /> <ref name=":8" /> <ref>{{Cite journal|last=K|first=Rack|last2=S|first2=Vidrequin|last3=Jl|first3=Dargent|date=2016|title=Genomic profiling of myeloma: the best approach, a comparison of cytogenetics, FISH and array-CGH of 112 myeloma cases|url=https://pubmed.ncbi.nlm.nih.gov/26338801/|language=en|pmid=26338801}}</ref> <ref name=":9">{{Cite journal|last=P|first=Krzeminski|last2=La|first2=Corchete|last3=Jl|first3=García|last4=L|first4=López-Corral|last5=E|first5=Fermiñán|last6=Em|first6=García|last7=Aa|first7=Martín|last8=Jm|first8=Hernández-Rivas|last9=R|first9=García-Sanz|date=2016|title=Integrative analysis of DNA copy number, DNA methylation and gene expression in multiple myeloma reveals alterations related to relapse|url=https://pubmed.ncbi.nlm.nih.gov/27811368/|language=en|doi=10.18632/oncotarget.13025|pmc=PMC5348347|pmid=27811368}}</ref> |
|- | |- | ||
|8q24.3 | |8q24.3 | ||
− | |Gain | + | | Gain |
− | |''MAPK15, TOP1MT, CYP11B11 (P450), ZNF41, | + | |''[[MAPK15]], [[TOP1MT]], [[CYP11B11]] (P450), [[ZNF41]], [[ZNF517]], [[ZNF616]]'' and ''[[ZNF707]]'' |
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":5" /> <ref name=":9" /> |
|- | |- | ||
| rowspan="4" |9 | | rowspan="4" |9 | ||
Line 295: | Line 460: | ||
|Recurrent | |Recurrent | ||
|1 | |1 | ||
− | | | + | |<ref name=":1" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" /> |
|- | |- | ||
− | |9p | + | | 9p |
|Gain | |Gain | ||
| | | | ||
|Recurrent | |Recurrent | ||
|2 | |2 | ||
− | | | + | |<ref name=":1" /> <ref name=":2" /> |
|- | |- | ||
|9q | |9q | ||
Line 309: | Line 474: | ||
|Recurrent | |Recurrent | ||
| | | | ||
− | | | + | |<ref name=":1" /> <ref name=":2" /> |
|- | |- | ||
|9q34.3 | |9q34.3 | ||
|Gain | |Gain | ||
− | |''ZNF79, CDK9, SET'' | + | |''[[ZNF79]], [[CDK9]], SET'' |
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":5" /> |
|- | |- | ||
| rowspan="3" |10 | | rowspan="3" |10 | ||
Line 324: | Line 489: | ||
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":1" /> |
|- | |- | ||
|10q | |10q | ||
Line 331: | Line 496: | ||
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":1" /> |
|- | |- | ||
|10q23.31 | |10q23.31 | ||
|Loss | |Loss | ||
− | |''PTEN'' | + | |''[[PTEN]]'' |
|Recurrent | |Recurrent | ||
|2 | |2 | ||
− | | | + | |<ref>{{Cite journal|last=H|first=Chang|last2=Xy|first2=Qi|last3=J|first3=Claudio|last4=L|first4=Zhuang|last5=B|first5=Patterson|last6=Ak|first6=Stewart|date=2006|title=Analysis of PTEN deletions and mutations in multiple myeloma|url=https://pubmed.ncbi.nlm.nih.gov/16112193/|language=en|pmid=16112193}}</ref> |
|- | |- | ||
| rowspan="6" |11 | | rowspan="6" |11 | ||
Line 346: | Line 511: | ||
|Recurrent | |Recurrent | ||
|1 | |1 | ||
− | | | + | |<ref name=":1" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" /> |
|- | |- | ||
|11p | |11p | ||
Line 353: | Line 518: | ||
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":1" /> |
|- | |- | ||
|11q | |11q | ||
Line 360: | Line 525: | ||
|Recurrent | |Recurrent | ||
|2 | |2 | ||
− | | | + | |<ref name=":2" /> <ref name=":6" /> |
|- | |- | ||
− | |11q13.1/q13.4 | + | | 11q13.1/q13.4 |
|Gain | |Gain | ||
− | |''SCYL1, MAP3K11, CCND1, FGF4, FGF3, NUMA | + | |''[[SCYL1]], [[MAP3K11]], [[CCND1]], [[FGF4]], [[FGF3]], [[NUMA]]'' and ''[[RELT]]'' |
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":5" /> |
|- | |- | ||
|11q22 | |11q22 | ||
Line 374: | Line 539: | ||
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":1" /> |
|- | |- | ||
|11q22.1-q22.3 | |11q22.1-q22.3 | ||
|Homozygous Loss | |Homozygous Loss | ||
− | |BIRC3, BIRC2, MMP cluster | + | |[[BIRC3]], [[BIRC2]], MMP cluster |
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":1" /> <ref>{{Cite journal|last=Jb|first=Egan|last2=Cx|first2=Shi|last3=W|first3=Tembe|last4=A|first4=Christoforides|last5=A|first5=Kurdoglu|last6=S|first6=Sinari|last7=S|first7=Middha|last8=Y|first8=Asmann|last9=J|first9=Schmidt|date=2012|title=Whole-genome sequencing of multiple myeloma from diagnosis to plasma cell leukemia reveals genomic initiating events, evolution, and clonal tides|url=https://pubmed.ncbi.nlm.nih.gov/22529291/|language=en|doi=10.1182/blood-2012-01-405977|pmc=PMC3412329|pmid=22529291}}</ref> |
|- | |- | ||
| rowspan="3" |12 | | rowspan="3" |12 | ||
Line 389: | Line 554: | ||
|Recurrent | |Recurrent | ||
|2 | |2 | ||
− | | | + | |<ref name=":0" /> <ref name=":1" /> <ref name=":5" /> <ref name=":7" /> |
|- | |- | ||
|12p | |12p | ||
Line 396: | Line 561: | ||
|Recurrent | |Recurrent | ||
|2 | |2 | ||
− | | | + | |<ref name=":2" /> <ref name=":7" /> |
|- | |- | ||
|12p13.1 | |12p13.1 | ||
|Loss | |Loss | ||
− | |''CDKN1B, APOLD1'' | + | |''[[CDKN1B]], [[APOLD1]]'' |
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":1" /> |
|- | |- | ||
| rowspan="3" |13 | | rowspan="3" |13 | ||
− | |13q/13 | + | | 13q/13 |
|Loss | |Loss | ||
| | | | ||
|Poor prognostic marker | |Poor prognostic marker | ||
|1 | |1 | ||
− | | | + | |<ref name=":1" /> <ref name=":2" /> <ref name=":7" /> <ref name=":6" /> <ref name=":5" /> <ref name=":8" /> |
|- | |- | ||
|13q14.11/q14.2 | |13q14.11/q14.2 | ||
|Loss | |Loss | ||
− | |''TNFSF11, RB1, P2RY5, RCBTB2'' | + | |''[[TNFSF11]], [[RB1]], [[P2RY5]], [[RCBTB2]]'' |
|Poor prognostic marker | |Poor prognostic marker | ||
|1 | |1 | ||
− | | | + | |<ref name=":0" /> <ref name=":1" /> <ref name=":5" /> |
|- | |- | ||
|13q32.2 | |13q32.2 | ||
|Loss | |Loss | ||
− | |''TGDS'' | + | |''[[TGDS]]'' |
|Recurrent | |Recurrent | ||
|2 | |2 | ||
− | | | + | |<ref name=":4" /> |
|- | |- | ||
| rowspan="5" |14 | | rowspan="5" |14 | ||
− | |14q/14 | + | | 14q/14 |
|Loss | |Loss | ||
| | | | ||
|Better prognostic marker | |Better prognostic marker | ||
|2 | |2 | ||
− | | | + | |<ref name=":0" /> <ref name=":1" /> <ref name=":2" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" /> |
|- | |- | ||
|14q/14 | |14q/14 | ||
Line 440: | Line 605: | ||
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":6" /> |
|- | |- | ||
|14q | |14q | ||
Line 447: | Line 612: | ||
|Recurrent | |Recurrent | ||
|2 | |2 | ||
− | | | + | |<ref name=":2" /> <ref name=":7" /> |
|- | |- | ||
|14q24.1-q24.3 | |14q24.1-q24.3 | ||
|Loss | |Loss | ||
− | |''MLH3'' | + | |''[[MLH3]]'' |
|Recurrent | |Recurrent | ||
|2 | |2 | ||
− | | | + | |<ref name=":3" /> |
|- | |- | ||
|14q32.32 | |14q32.32 | ||
|Homozygous Loss | |Homozygous Loss | ||
− | |''RCOR1, TRAF3, AMN, CDC42BPB'' | + | |''[[RCOR1]], [[TRAF3]], [[AMN]], [[CDC42BPB]]'' |
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":1" /> |
|- | |- | ||
| rowspan="2" |15 | | rowspan="2" |15 | ||
Line 469: | Line 634: | ||
|Recurrent | |Recurrent | ||
|1 | |1 | ||
− | | | + | |<ref name=":1" /> <ref name=":2" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" /> |
|- | |- | ||
|15q24.1 | |15q24.1 | ||
|Gain | |Gain | ||
− | |''CYP11A1, ARID3B, CSK, etc.'' | + | |''[[CYP11A1]], [[ARID3B]], [[CSK]], etc.'' |
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":3" /> |
|- | |- | ||
| rowspan="5" |16 | | rowspan="5" |16 | ||
|16p11.2 | |16p11.2 | ||
|Loss | |Loss | ||
− | |''TP53TG3'' | + | |''[[TP53TG3]]'' |
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":3" /> |
|- | |- | ||
|16q | |16q | ||
Line 491: | Line 656: | ||
|Recurrent | |Recurrent | ||
|1 | |1 | ||
− | | | + | |<ref name=":0" /> <ref name=":1" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" /> |
|- | |- | ||
|16q12.1-q12.2 | |16q12.1-q12.2 | ||
|Homozygous Loss | |Homozygous Loss | ||
− | |''CYLD, SALL1'' | + | |''[[CYLD]], [[SALL1]]'' |
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":1" /> |
|- | |- | ||
|16q24.3 | |16q24.3 | ||
|Loss | |Loss | ||
− | |CBFA2T3 and others | + | |''[[CBFA2T3]]'' and others |
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":5" /> |
|- | |- | ||
|16 | |16 | ||
|cnLOH | |cnLOH | ||
| | | | ||
− | |Recurrent | + | | Recurrent |
|2 | |2 | ||
− | | | + | |<ref name=":7" /> |
|- | |- | ||
| rowspan="6" |17 | | rowspan="6" |17 | ||
Line 520: | Line 685: | ||
|Recurrent | |Recurrent | ||
|3, 3 | |3, 3 | ||
− | | | + | |<ref name=":1" /> <ref name=":6" /> |
|- | |- | ||
|17p | |17p | ||
Line 527: | Line 692: | ||
|Predictive & prognostic | |Predictive & prognostic | ||
|1 | |1 | ||
− | | | + | |<ref name=":4" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" /> |
|- | |- | ||
− | |17p13 | + | | 17p13 |
|Loss | |Loss | ||
− | |''ATP1B2, | + | |''[[ATP1B2]], [[TP53]], [[WRAP5]], [[EFNB3]]'' |
− | |Predictive & prognostic | + | | Predictive & prognostic |
|1 | |1 | ||
− | | | + | |<ref name=":1" /> <ref name=":8" /> |
|- | |- | ||
|17 | |17 | ||
Line 541: | Line 706: | ||
|Recurrent | |Recurrent | ||
|2 | |2 | ||
− | | | + | |<ref name=":7" /> |
|- | |- | ||
|17q21.33 and 17qter | |17q21.33 and 17qter | ||
Line 548: | Line 713: | ||
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":1" /> |
|- | |- | ||
|17q25 | |17q25 | ||
Line 555: | Line 720: | ||
|Recurrent | |Recurrent | ||
|2 | |2 | ||
− | | | + | |<ref name=":7" /> |
|- | |- | ||
|18 | |18 | ||
Line 563: | Line 728: | ||
|Recurrent | |Recurrent | ||
|2, 3 | |2, 3 | ||
− | | | + | |<ref name=":1" /> <ref name=":7" /> |
|- | |- | ||
| rowspan="3" |19 | | rowspan="3" |19 | ||
Line 571: | Line 736: | ||
|Recurrent | |Recurrent | ||
|2 | |2 | ||
− | | | + | |<ref name=":1" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" /> |
|- | |- | ||
|19p/ 19p13 | |19p/ 19p13 | ||
|Gain | |Gain | ||
− | |''ICAM4,ICAM4, IBCL2L12, TYK2, IL2 | + | |''ICAM4, ICAM4, [[IBCL2L12]], [[TYK2]], [[IL2]]'' and ''[[DNMT1]]'' |
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":1" /> <ref name=":3" /> <ref name=":5" /> |
|- | |- | ||
|19q | |19q | ||
Line 585: | Line 750: | ||
|Recurrent | |Recurrent | ||
|2 | |2 | ||
− | | | + | |<ref name=":1" /> <ref name=":2" /> |
|- | |- | ||
| rowspan="3" |20 | | rowspan="3" |20 | ||
Line 593: | Line 758: | ||
|Recurrent | |Recurrent | ||
|2 | |2 | ||
− | | | + | |<ref name=":1" /> <ref name=":7" /> |
|- | |- | ||
|20/20q | |20/20q | ||
Line 600: | Line 765: | ||
|Recurrent | |Recurrent | ||
|2 | |2 | ||
− | | | + | |<ref name=":1" /> <ref name=":7" /> |
|- | |- | ||
|20/20q | |20/20q | ||
Line 607: | Line 772: | ||
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":1" /> <ref name=":6" /> |
|- | |- | ||
|21 | |21 | ||
Line 615: | Line 780: | ||
|Recurrent | |Recurrent | ||
|1 | |1 | ||
− | | | + | |<ref name=":1" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" /> |
|- | |- | ||
| rowspan="2" |22 | | rowspan="2" |22 | ||
Line 623: | Line 788: | ||
|Recurrent | |Recurrent | ||
|2 | |2 | ||
− | | | + | |<ref name=":0" /> <ref name=":1" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" /> |
|- | |- | ||
|22q21 | |22q21 | ||
|mostly Gain | |mostly Gain | ||
− | |''PRAME'' | + | |''[[PRAME]]'' |
|Recurrent, Associated with relapse | |Recurrent, Associated with relapse | ||
|2 | |2 | ||
− | | | + | |<ref name=":9" /> |
|- | |- | ||
| rowspan="8" |X | | rowspan="8" |X | ||
|X | |X | ||
− | |Gain/ Loss | + | |Gain / Loss |
| | | | ||
|Recurrent | |Recurrent | ||
|2 | |2 | ||
− | | | + | |<ref name=":2" /> <ref name=":7" /> |
|- | |- | ||
|X | |X | ||
Line 645: | Line 810: | ||
|Recurrent | |Recurrent | ||
|2 | |2 | ||
− | | | + | |<ref name=":2" /> |
|- | |- | ||
|Xp | |Xp | ||
Line 652: | Line 817: | ||
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":1" /> |
|- | |- | ||
|Xp22.33 | |Xp22.33 | ||
|Loss | |Loss | ||
− | |''SHOX, CRLF2, IL3RA'' | + | |''[[SHOX]], [[CRLF2]], [[IL3RA]]'' |
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":3" /> |
|- | |- | ||
|Xq | |Xq | ||
Line 666: | Line 831: | ||
|Poor prognostic marker | |Poor prognostic marker | ||
|2 | |2 | ||
− | | | + | |<ref name=":0" /> <ref name=":1" /> |
|- | |- | ||
|Xq | |Xq | ||
Line 673: | Line 838: | ||
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":1" /> |
|- | |- | ||
|Xq21.31-q21.32 | |Xq21.31-q21.32 | ||
|Loss | |Loss | ||
− | |''PABPC5, PCDHX'' | + | |''[[PABPC5]], [[PCDHX]]'' |
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":3" /> |
|- | |- | ||
|Xq27.3-q28 | |Xq27.3-q28 | ||
|Gain | |Gain | ||
− | |''AFF2, MTMR1, etc'' | + | |''[[AFF2]], [[MTMR1]], etc'' |
|Recurrent | |Recurrent | ||
|3 | |3 | ||
− | | | + | |<ref name=":3" /> |
|- | |- | ||
|Y | |Y | ||
Line 695: | Line 860: | ||
| | | | ||
|2 | |2 | ||
− | | | + | |<ref name=":0" /> |
|- | |- | ||
|Genome wide load of CNA > 100Mb | |Genome wide load of CNA > 100Mb | ||
| | | | ||
− | | | + | |Gain / Loss |
| | | | ||
|associated with significant change in GEP at relapse | |associated with significant change in GEP at relapse | ||
|2 | |2 | ||
− | | | + | |<ref name=":9" /> |
|} | |} | ||
+ | cnLOH = copy neutral LOH, LOH = Loss of Heterozygosity, GEP = Gene Expression Profile | ||
+ | |||
+ | '''Level of evidence:''' | ||
+ | |||
+ | Level 1: well established evidence (in NCCN guideline, WHO criteria, FDA-approved, COG recommendation, or based on large body of publications) | ||
+ | |||
+ | Level 2: emerging evidence (by one large study or multiple case reports) | ||
+ | |||
+ | Level 3: presumptive evidence (multiple case reports or expert opinion) | ||
+ | |||
+ | ==Reference== | ||
<references /> | <references /> |
Latest revision as of 16:42, 22 April 2021
Table 1 - Clinically significant cytogenomic alterations in plasma cell myeloma (Literature Review). Summary table reviewing 65 papers applying FISH, CMA, NGS, and gene expression profiling for PCN diagnosis and prognosis. See Table 2 for references and Level 3 evidence. Table derived from Pugh et al., 2018 [PMID 30393007] with permission from Cancer Genetics.
Evidence Level | Chromosomal Abnormality | Significance | Genes |
Level 1
well established evidence in NCCN guideline, WHO criteria, FDA-approved, COG recommendation, or based on large body of publications. |
Hyperdiploidy (+3, +5, +7, +9, +11, +15, +21) | Good prognosis | |
t(4;14) | Poor prognosis, predicts bortezomib response | IGH | |
t(6;14) | Good prognosis | IGH | |
t(14;16) | Poor prognosis | IGH | |
t(11;14) | Good prognosis | IGH | |
t(14;20) | Poor prognosis | ||
del(1p) | Poor prognosis | ||
1q+ | Poor prognosis | ||
del(13q) | Poor prognosis | ||
16q | Poor prognosis | ||
del(17p) | Poor prognosis (Level 1), predicts response (Level 2) | ||
Level 2
emerging evidence by one large study or multiple case reports |
1p CN-LOH | Recurrent | |
+2 | Recurrent | ||
del(4q) | Recurrent | ||
del(5p), 5q+, del(5q) | Recurrent | ||
6p+ | Recurrent | ||
del(6q) | Recurrent | ||
7q+ | Recurrent | ||
del(8p) | Recurrent | ||
8q24.2+ | Recurrent | MYC | |
9p+ | Recurrent | ||
del(10q23.31) | Recurrent | PTEN | |
11q+ | Recurrent | ||
del(12p) or 12p CN-LOH | Recurrent | ||
del(13q32.2) | Recurrent | TGDS | |
del(14q) | Good prognosis | ||
14q CN-LOH | Recurrent | ||
16 CN-LOH | Recurrent | ||
17 CN-LOH | Recurrent | ||
17q25+ | Recurrent | ||
+18 | Recurrent | ||
+19, 19q+ | Recurrent | ||
del(20p) | Recurrent | ||
+20, 20q+ | Recurrent | ||
del(22) | Recurrent | ||
22q21+ | Associated with relapse | PRAME | |
del(X), X+, X CN-LOH | Recurrent | ||
Xq+ in males | Poor prognosis |
Table 2 - Recurrent Abnormalities of copy number aberration (CNAs) and copy-neutral loss-of-heterozygosity (cnLOH) in plasma cell myeloma (Literature Review). Table derived from Pugh et al., 2018 [PMID 30393007] with permission from Cancer Genetics.
Chromosome | Region (whole chromosome or segmental, including cytobands) | Abnormality Type (gain, loss, LOH) | Relevant genes (if known) | Significance (Recurrent, Diagnostic, Prognostic, Targeted treatment) | Strength of Evidence (Level 1, 2, 3, see legend below table for criteria) | References |
1 | 1p32 | Loss | FAF1, CDKN2C | Poor prognostic marker | 1, 2 | [1] [2] [3] |
1p22.2-p22.1 | Loss | BARHL2, TGFBR3, and others; HSP90B3P, TGFER3, BRDT, EPHAX4, BTBD8 | Prognostic | 1, 3 | [2] [3] [4] | |
1p21.3 | Loss | SNX7 | Recurrent | 2 | [5] | |
1p13.2 | Loss | MAGI3, BCL2 like and others | Recurrent | 3 | [6] | |
1p12 | Loss | MAN1A2, FAM46C, GDAP2 | Recurrent | 2 | [1] [2] | |
1p | cnLOH | Recurrent | 2 | [3] | ||
1p | Loss | Recurrent | 1 | [2] [6] [7] [8] [9] | ||
1q21.2-q23 | Gain | CKS1B and ANP32E | Recurrent | 1 | [2] [6] [7] [8] [9] | |
1q | Gain | Poor prognostic marker | 1 | [2] [6] [7] [8] | ||
2 | 2 | Gain | Recurrent | 2 | [8] | |
2q | Loss | Recurrent | 3 | [7] | ||
3 | 3 | Gain | Recurrent | 1 | [2] [6] [7] [8] | |
3q21-23 | Gain | Recurrent | 2 | [3] | ||
4 | 4p16.3 | Loss | FGFR3 and WHSC1 | Recurrent | 3 | [2] |
4p15.2 | Loss | LGI2, SEPSECS, PI4K2B and others | Recurrent | 3 | [2] | |
4q35.1 | Loss | DCTD, ING2 and others | Recurrent | 2 | [4] | |
5 | 5 | Gain | Recurrent | 1 | [2] [6] [7] [8] [9] | |
5p | Gain | Recurrent | 3 | [2] | ||
5p | Loss | Recurrent | 2 | [8] | ||
5p14.3 | Gain | CDH10, CDH12 | Recurrent | 3 | [6] | |
5q | Gain | Recurrent | 2 | [2] [3] | ||
5q13.2 | Loss | OCLN, NAIP and others | Recurrent | 2 | [4] | |
6 | 6p | Gain | Recurrent | 2 | [1] [2] [8] | |
6pter-p22.3 | Gain | Recurrent | 3 | [2] | ||
6q | Loss | Poor prognostic marker | 2 | [1] [2] [3] [6] [7] [8] | ||
6q11.1-q13 | Gain | MTRNR2L9 | Recurrent | 3 | [4] | |
6q16.3 | Loss | COQR, GRIK2 | Recurrent | 3 | [2] | |
6q25.3 | Loss | IGFR3 | Recurrent | 3 | [6] | |
7 | 7 | Gain | Recurrent | 1 | [2] [6] [7] [8] | |
7p | Gain | Recurrent | 3 | [2] | ||
7p15.2 | Gain | CBX3, etc | Recurrent | 3 | [4] | |
7q | Gain | Recurrent | 2 | [2] [3] | ||
8 | 8p | Loss | Recurrent | 2 | [1] [2] [3] [6] [7] [8] | |
8p23.1 | Loss | DEFB4 and others | Recurrent | 2 | [4] | |
8p21.3/p21.2 | Loss | TNFRSF10B, DOCK5 and others | Recurrent | 3 | [6] | |
8q | Gain | Recurrent | 3 | [2] | ||
8q24.2 | Gain/amplification and Loss | MYC | Recurrent | 2 | [2] [6] [9] [10] [11] | |
8q24.3 | Gain | MAPK15, TOP1MT, CYP11B11 (P450), ZNF41, ZNF517, ZNF616 and ZNF707 | Recurrent | 3 | [6] [11] | |
9 | 9 | Gain | Recurrent | 1 | [2] [6] [7] [8] | |
9p | Gain | Recurrent | 2 | [2] [3] | ||
9q | Gain | Recurrent | [2] [3] | |||
9q34.3 | Gain | ZNF79, CDK9, SET | Recurrent | 3 | [6] | |
10 | 10p | Loss | Recurrent | 3 | [2] | |
10q | Loss | Recurrent | 3 | [2] | ||
10q23.31 | Loss | PTEN | Recurrent | 2 | [12] | |
11 | 11 | Gain | Recurrent | 1 | [2] [6] [7] [8] | |
11p | Gain | Recurrent | 3 | [2] | ||
11q | Gain | Recurrent | 2 | [3] [7] | ||
11q13.1/q13.4 | Gain | SCYL1, MAP3K11, CCND1, FGF4, FGF3, NUMA and RELT | Recurrent | 3 | [6] | |
11q22 | Loss | Recurrent | 3 | [2] | ||
11q22.1-q22.3 | Homozygous Loss | BIRC3, BIRC2, MMP cluster | Recurrent | 3 | [2] [13] | |
12 | 12p | Loss | Recurrent | 2 | [1] [2] [6] [8] | |
12p | LOH | Recurrent | 2 | [3] [8] | ||
12p13.1 | Loss | CDKN1B, APOLD1 | Recurrent | 3 | [2] | |
13 | 13q/13 | Loss | Poor prognostic marker | 1 | [2] [3] [8] [7] [6] [9] | |
13q14.11/q14.2 | Loss | TNFSF11, RB1, P2RY5, RCBTB2 | Poor prognostic marker | 1 | [1] [2] [6] | |
13q32.2 | Loss | TGDS | Recurrent | 2 | [5] | |
14 | 14q/14 | Loss | Better prognostic marker | 2 | [1] [2] [3] [6] [7] [8] | |
14q/14 | Gain | Recurrent | 3 | [7] | ||
14q | cnLOH | Recurrent | 2 | [3] [8] | ||
14q24.1-q24.3 | Loss | MLH3 | Recurrent | 2 | [4] | |
14q32.32 | Homozygous Loss | RCOR1, TRAF3, AMN, CDC42BPB | Recurrent | 3 | [2] | |
15 | 15 | Gain | Recurrent | 1 | [2] [3] [6] [7] [8] | |
15q24.1 | Gain | CYP11A1, ARID3B, CSK, etc. | Recurrent | 3 | [4] | |
16 | 16p11.2 | Loss | TP53TG3 | Recurrent | 3 | [4] |
16q | Loss | Recurrent | 1 | [1] [2] [6] [7] [8] | ||
16q12.1-q12.2 | Homozygous Loss | CYLD, SALL1 | Recurrent | 3 | [2] | |
16q24.3 | Loss | CBFA2T3 and others | Recurrent | 3 | [6] | |
16 | cnLOH | Recurrent | 2 | [8] | ||
17 | 17p/17 | Gain | Recurrent | 3, 3 | [2] [7] | |
17p | Loss | Predictive & prognostic | 1 | [5] [6] [7] [8] | ||
17p13 | Loss | ATP1B2, TP53, WRAP5, EFNB3 | Predictive & prognostic | 1 | [2] [9] | |
17 | cnLOH | Recurrent | 2 | [8] | ||
17q21.33 and 17qter | Gain | Recurrent | 3 | [2] | ||
17q25 | Gain | Recurrent | 2 | [8] | ||
18 | 18 | Gain | Recurrent | 2, 3 | [2] [8] | |
19 | 19 | Gain | Recurrent | 2 | [2] [6] [7] [8] | |
19p/ 19p13 | Gain | ICAM4, ICAM4, IBCL2L12, TYK2, IL2 and DNMT1 | Recurrent | 3 | [2] [4] [6] | |
19q | Gain | Recurrent | 2 | [2] [3] | ||
20 | 20p | Loss | Recurrent | 2 | [2] [8] | |
20/20q | Gain | Recurrent | 2 | [2] [8] | ||
20/20q | Loss | Recurrent | 3 | [2] [7] | ||
21 | 21 | Gain | Recurrent | 1 | [2] [6] [7] [8] | |
22 | 22 | Loss | Recurrent | 2 | [1] [2] [6] [7] [8] | |
22q21 | mostly Gain | PRAME | Recurrent, Associated with relapse | 2 | [11] | |
X | X | Gain / Loss | Recurrent | 2 | [3] [8] | |
X | LOH | Recurrent | 2 | [3] | ||
Xp | Loss | Recurrent | 3 | [2] | ||
Xp22.33 | Loss | SHOX, CRLF2, IL3RA | Recurrent | 3 | [4] | |
Xq | Gain (in males) | Poor prognostic marker | 2 | [1] [2] | ||
Xq | Loss | Recurrent | 3 | [2] | ||
Xq21.31-q21.32 | Loss | PABPC5, PCDHX | Recurrent | 3 | [4] | |
Xq27.3-q28 | Gain | AFF2, MTMR1, etc | Recurrent | 3 | [4] | |
Y | Y | Loss | 2 | [1] | ||
Genome wide load of CNA > 100Mb | Gain / Loss | associated with significant change in GEP at relapse | 2 | [11] |
cnLOH = copy neutral LOH, LOH = Loss of Heterozygosity, GEP = Gene Expression Profile
Level of evidence:
Level 1: well established evidence (in NCCN guideline, WHO criteria, FDA-approved, COG recommendation, or based on large body of publications)
Level 2: emerging evidence (by one large study or multiple case reports)
Level 3: presumptive evidence (multiple case reports or expert opinion)
Reference
- ↑ 1.00 1.01 1.02 1.03 1.04 1.05 1.06 1.07 1.08 1.09 1.10 1.11 B, Hebraud; et al. (2015). "Role of additional chromosomal changes in the prognostic value of t(4;14) and del(17p) in multiple myeloma: the IFM experience". doi:10.1182/blood-2014-07-587964. PMC 4375107. PMID 25636340.CS1 maint: PMC format (link)
- ↑ 2.00 2.01 2.02 2.03 2.04 2.05 2.06 2.07 2.08 2.09 2.10 2.11 2.12 2.13 2.14 2.15 2.16 2.17 2.18 2.19 2.20 2.21 2.22 2.23 2.24 2.25 2.26 2.27 2.28 2.29 2.30 2.31 2.32 2.33 2.34 2.35 2.36 2.37 2.38 2.39 2.40 2.41 2.42 2.43 2.44 2.45 2.46 2.47 2.48 2.49 2.50 2.51 2.52 2.53 2.54 J, Smetana; et al. (2014). "Genome-wide screening of cytogenetic abnormalities in multiple myeloma patients using array-CGH technique: a Czech multicenter experience". doi:10.1155/2014/209670. PMC 4060785. PMID 24987674.CS1 maint: PMC format (link)
- ↑ 3.00 3.01 3.02 3.03 3.04 3.05 3.06 3.07 3.08 3.09 3.10 3.11 3.12 3.13 3.14 3.15 3.16 3.17 3.18 M, Kim; et al. (2015). "Copy number variations could predict the outcome of bortezomib plus melphalan and prednisone for initial treatment of multiple myeloma". PMID 25145975.
- ↑ 4.00 4.01 4.02 4.03 4.04 4.05 4.06 4.07 4.08 4.09 4.10 4.11 4.12 E, Kjeldsen (2016). "Identification of Prognostically Relevant Chromosomal Abnormalities in Routine Diagnostics of Multiple Myeloma Using Genomic Profiling". PMID 26912802.
- ↑ 5.0 5.1 5.2 N, Bolli; et al. (2014). "Heterogeneity of genomic evolution and mutational profiles in multiple myeloma". doi:10.1038/ncomms3997. PMC 3905727. PMID 24429703.CS1 maint: PMC format (link)
- ↑ 6.00 6.01 6.02 6.03 6.04 6.05 6.06 6.07 6.08 6.09 6.10 6.11 6.12 6.13 6.14 6.15 6.16 6.17 6.18 6.19 6.20 6.21 6.22 6.23 6.24 6.25 6.26 6.27 6.28 6.29 T, Boneva; et al. (2014). "Can genome array screening replace FISH as a front-line test in multiple myeloma?". PMID 24757046.
- ↑ 7.00 7.01 7.02 7.03 7.04 7.05 7.06 7.07 7.08 7.09 7.10 7.11 7.12 7.13 7.14 7.15 7.16 7.17 7.18 7.19 7.20 7.21 7.22 Bk, Zehentner; et al. (2012). "Array-based karyotyping in plasma cell neoplasia after plasma cell enrichment increases detection of genomic aberrations". PMID 23010713.
- ↑ 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 8.13 8.14 8.15 8.16 8.17 8.18 8.19 8.20 8.21 8.22 8.23 8.24 8.25 8.26 8.27 8.28 8.29 8.30 M, Stevens-Kroef; et al. (2012). "High detection rate of clinically relevant genomic abnormalities in plasma cells enriched from patients with multiple myeloma". PMID 22833442.
- ↑ 9.0 9.1 9.2 9.3 9.4 9.5 N, Bolli; et al. (2016). "A DNA target-enrichment approach to detect mutations, copy number changes and immunoglobulin translocations in multiple myeloma". doi:10.1038/bcj.2016.72. PMC 5056967. PMID 27588520.CS1 maint: PMC format (link)
- ↑ K, Rack; et al. (2016). "Genomic profiling of myeloma: the best approach, a comparison of cytogenetics, FISH and array-CGH of 112 myeloma cases". PMID 26338801.
- ↑ 11.0 11.1 11.2 11.3 P, Krzeminski; et al. (2016). "Integrative analysis of DNA copy number, DNA methylation and gene expression in multiple myeloma reveals alterations related to relapse". doi:10.18632/oncotarget.13025. PMC 5348347. PMID 27811368.CS1 maint: PMC format (link)
- ↑ H, Chang; et al. (2006). "Analysis of PTEN deletions and mutations in multiple myeloma". PMID 16112193.
- ↑ Jb, Egan; et al. (2012). "Whole-genome sequencing of multiple myeloma from diagnosis to plasma cell leukemia reveals genomic initiating events, evolution, and clonal tides". doi:10.1182/blood-2012-01-405977. PMC 3412329. PMID 22529291.CS1 maint: PMC format (link)