Plasma Cell Neoplasms Tables: Recurrent Cytogenomic Alterations: Difference between revisions

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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 PMID (year)'''
|'''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> 24987674 (2014)<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>, 25145975 (2015)<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>
|<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
|24987674 (2014)<ref name=":1" />  25145975 (2015)<ref name=":2" /> 26912802 (2016)<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>
|<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
|24429703-(2014)<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>
|<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
|MAG13(kinase), BCL2 like and others
|''[[MAGI3]]'', BCL2 like and others
|Recurrent
|Recurrent
|3
|3
|24757046 (2014)<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>
|<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" /> 24987674 (2014)<ref name=":1" />
|<ref name=":0" /> <ref name=":1" />
|-
|-
|1p
|1p
Line 49: Line 221:
|Recurrent
|Recurrent
|2
|2
|25145975 (2015)<ref name=":2" />
|<ref name=":2" />
|-
|-
|1p
|1p
Line 56: Line 228:
|Recurrent
|Recurrent
|1
|1
|24987674 (2014)<ref name=":1" />, 24757046 (2014)<ref name=":5" />, 23010713 (2012)<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>, 22833442 (2012)<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>,  27588520 (2016)<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>
|<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
|24987674 (2014)<ref name=":1" />, 24757046 (2014)<ref name=":5" />, 23010713 (2012)<ref name=":6" />, 22833442 (2012)<ref name=":7" />, 27588520 (2016)<ref name=":8" />
|<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
|24987674 (2014)<ref name=":1" />, 24757046 (2014)<ref name=":5" />, 23010713 (2012)<ref name=":6" />, 22833442 (2012)<ref name=":7" />
|<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
|22833442 (2012)<ref name=":7" />
|<ref name=":7" />
|-
|-
|2q
|2q
Line 85: Line 257:
|Recurrent
|Recurrent
|3
|3
|23010713 (2012)<ref name=":6" />
|<ref name=":6" />
|-
|-
| rowspan="2" |3
| rowspan="2" |3
Line 93: Line 265:
|Recurrent
|Recurrent
|1
|1
|24987674 (2014)<ref name=":1" />, 24757046 (2014)<ref name=":5" />, 23010713 (2012)<ref name=":6" />, 22833442 (2012)<ref name=":7" />
|<ref name=":1" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" />
|-
|-
|3q21-23
|3q21-23
Line 100: Line 272:
|Recurrent
|Recurrent
|2
|2
|25145975 (2015)<ref name=":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
|24987674 (2014)<ref name=":1" />
|<ref name=":1" />
|-
|-
|4p15.2
|4p15.2
|Loss
|Loss
|''LGI2, SEPSECS, PI4K2B'' and others
|''[[LGI2]], [[SEPSECS]], [[PI4K2B]]'' and others
|Recurrent
|Recurrent
|3
|3
|24987674 (2014)<ref name=":1" />
|<ref name=":1" />
|-
|-
|4q35.1
|4q35.1
|Loss
|Loss
|''DCTD, ING2,'' and others
|''[[DCTD]], [[ING2]]'' and others
|Recurrent
|Recurrent
|2
|2
|26912802 (2016)<ref name=":3" />
|<ref name=":3" />
|-
|-
| rowspan="6" |5
| rowspan="6" |5
|5
|5
|Gain
| Gain
|
|
|Recurrent
|Recurrent
|1
|1
|24987674 (2014)<ref name=":1" />, 24757046 (2014)<ref name=":5" />, 23010713 (2012)<ref name=":6" />, 22833442 (2012)<ref name=":7" />, 27588520 (2016)<ref name=":8" />
|<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
|24987674 (2014)<ref name=":1" />
|<ref name=":1" />
|-
|-
|5p
|5p
Line 144: Line 316:
|Recurrent
|Recurrent
|2
|2
|22833442 (2012)<ref name=":7" />
|<ref name=":7" />
|-
|-
|5p14.3
|5p14.3
|Gain
|Gain
|''CDH12,10''
|''[[CDH10]], [[CDH12]]''
|Recurrent
|Recurrent
|3
|3
|24757046 (2014)<ref name=":5" />
|<ref name=":5" />
|-
|-
|5q
|5q
Line 157: Line 329:
|
|
|Recurrent
|Recurrent
|2
| 2
|24987674 (2014)<ref name=":1" /> 25145975 (2015)<ref name=":2" />  
|<ref name=":1" /> <ref name=":2" />
|-
|-
|5q13.2
|5q13.2
|Loss
|Loss
|''OCLN, NAIP'', and others
|''[[OCLN]], [[NAIP]]'' and others
|Recurrent
| Recurrent
|2
|2
|26912802 (2016)<ref name=":3" />
|<ref name=":3" />
|-
|-
| rowspan="7" |6
| rowspan="6" |6
|6p
|6p
|Gain
|Gain
Line 173: Line 345:
|Recurrent
|Recurrent
|2
|2
|25636340 (2015)<ref name=":0" />, 24987674 (2014)<ref name=":1" />, 22833442 (2012)<ref name=":7" />
|<ref name=":0" /> <ref name=":1" /> <ref name=":7" />
|-
|-
|6pter-p22.3
|6pter-p22.3
Line 180: Line 352:
|Recurrent
|Recurrent
|3
|3
|24987674 (2014)<ref name=":1" />
|<ref name=":1" />
|-
|-
|6q
|6q
Line 187: Line 359:
|Poor prognostic marker
|Poor prognostic marker
|2
|2
|25636340 (2015)<ref name=":0" />, 24987674 (2014)<ref name=":1" />, 25145975 (2015)<ref name=":2" />, 24757046 (2014)<ref name=":5" />, 23010713 (2012)<ref name=":6" />, 22833442 (2012)<ref name=":7" />
|<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
|26912802 (2016)<ref name=":3" />
|<ref name=":3" />
|-
|-
|6q16.3
|6q16.3
|Loss
|Loss
|''COQR, GRIK2''
|''[[COQR]], [[GRIK2]]''
|Recurrent
|Recurrent
|3
|3
|24987674 (2014)<ref name=":1" />
|<ref name=":1" />
|-
|-
|6q25.3
|6q25.3
|Loss
|Loss
|''IGFR3''
|''[[IGFR3]]''
|Recurrent
|Recurrent
|3
|3
|24757046 (2014)<ref name=":5" />
|<ref name=":5" />
|-
|6q16.3
|Loss
|''COQR, GRIK2''
|Recurrent
|3
|24987674 (2014)<ref name=":1" />
|-
|-
| rowspan="4" |7
| rowspan="4" |7
Line 223: Line 388:
|Recurrent
|Recurrent
|1
|1
|24987674 (2014)<ref name=":1" />, 24757046 (2014)<ref name=":5" />, 23010713 (2012)<ref name=":6" />, 22833442 (2012)<ref name=":7" />
|<ref name=":1" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" />
|-
|-
|7p
|7p
Line 230: Line 395:
|Recurrent
|Recurrent
|3
|3
|24987674 (2014)<ref name=":1" />
|<ref name=":1" />
|-
|-
|7p15.2
|7p15.2
|Gain
|Gain
|''CBX3, etc''
|''[[CBX3]]'', etc
|Recurrent
|Recurrent
|3
|3
|26912802 (2016)<ref name=":3" />
|<ref name=":3" />
|-
|-
|7q
|7q
Line 244: Line 409:
|Recurrent
|Recurrent
|2
|2
|24987674 (2014)<ref name=":1" />, 25145975 (2015)<ref name=":2" />
|<ref name=":1" /> <ref name=":2" />
|-
|-
| rowspan="6" |8
| rowspan="6" |8
Line 252: Line 417:
|Recurrent
|Recurrent
|2
|2
|25636340 (2015)<ref name=":0" />, 24987674 (2014)<ref name=":1" />  25145975 (2015)<ref name=":2" />, 24757046 (2014)<ref name=":5" />, 23010713 (2012)<ref name=":6" />, 22833442 (2012)<ref name=":7" />
|<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
|26912802 (2016)<ref name=":3" />
|<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
|24757046 (2014)<ref name=":5" />  
|<ref name=":5" />
|-
|-
|8q
|8q
Line 272: Line 437:
|
|
|Recurrent
|Recurrent
|3
| 3
|24987674 (2014)<ref name=":1" />
|<ref name=":1" />
|-
|-
|8q24.2
|8q24.2
|Gain/amplification and Loss
|Gain/amplification and Loss
|''MYC''
|''[[MYC]]''
|Recurrent
|Recurrent
|2
|2
|24987674 (2014)<ref name=":1" />, 24757046 (2014)<ref name=":5" />, 27588520 (2016)<ref name=":8" />, 26338801 (2016)<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>,  27811368-(2016)<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>
|<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, 616, 707'' and ''ZNF517''
|''[[MAPK15]], [[TOP1MT]], [[CYP11B11]] (P450), [[ZNF41]], [[ZNF517]], [[ZNF616]]'' and ''[[ZNF707]]''
|Recurrent
|Recurrent
|3
|3
|24757046 (2014)<ref name=":5" />, 27811368-(2016)<ref name=":9" />
|<ref name=":5" /> <ref name=":9" />
|-
|-
| rowspan="4" |9
| rowspan="4" |9
Line 295: Line 460:
|Recurrent
|Recurrent
|1
|1
|24987674 (2014)<ref name=":1" />, 24757046 (2014)<ref name=":5" />, 23010713 (2012)<ref name=":6" />, 22833442 (2012)<ref name=":7" />
|<ref name=":1" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" />
|-
|-
|9p
| 9p
|Gain
|Gain
|
|
|Recurrent
|Recurrent
|2
|2
|24987674 (2014)<ref name=":1" />, 25145975 (2015)<ref name=":2" />  
|<ref name=":1" /> <ref name=":2" />
|-
|-
|9q
|9q
Line 309: Line 474:
|Recurrent
|Recurrent
|
|
|24987674 (2014)<ref name=":1" />, 25145975 (2015)<ref name=":2" />
|<ref name=":1" /> <ref name=":2" />
|-
|-
|9q34.3
|9q34.3
|Gain
|Gain
|''ZNF79, CDK9, SET''
|''[[ZNF79]], [[CDK9]], SET''
|Recurrent
|Recurrent
|3
|3
|24757046 (2014)<ref name=":5" />
|<ref name=":5" />
|-
|-
| rowspan="3" |10
| rowspan="3" |10
Line 324: Line 489:
|Recurrent
|Recurrent
|3
|3
|24987674 (2014)<ref name=":1" />
|<ref name=":1" />
|-
|-
|10q
|10q
Line 331: Line 496:
|Recurrent
|Recurrent
|3
|3
|24987674 (2014)<ref name=":1" />
|<ref name=":1" />
|-
|-
|10q23.31
|10q23.31
|Loss
|Loss
|''PTEN''
|''[[PTEN]]''
|Recurrent
|Recurrent
|2
|2
|16112193 (2006)<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>
|<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
|24987674 (2014)<ref name=":1" />, 24757046 (2014)<ref name=":5" />, 23010713 (2012)<ref name=":6" />, 22833442 (2012)<ref name=":7" />
|<ref name=":1" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" />
|-
|-
|11p
|11p
Line 353: Line 518:
|Recurrent
|Recurrent
|3
|3
|24987674 (2014)<ref name=":1" />
|<ref name=":1" />
|-
|-
|11q
|11q
Line 360: Line 525:
|Recurrent
|Recurrent
|2
|2
|25145975 (2015)<ref name=":2" />, 23010713 (2012)<ref name=":6" />
|<ref name=":2" /> <ref name=":6" />
|-
|-
|11q13.1/q13.4
| 11q13.1/q13.4
|Gain
|Gain
|''SCYL1, MAP3K11, CCND1, FGF4, FGF3, NUMA,'' and ''RELT''
|''[[SCYL1]], [[MAP3K11]], [[CCND1]], [[FGF4]], [[FGF3]], [[NUMA]]'' and ''[[RELT]]''
|Recurrent
|Recurrent
|3
|3
|24757046 (2014)<ref name=":5" />
|<ref name=":5" />
|-
|-
|11q22
|11q22
Line 374: Line 539:
|Recurrent
|Recurrent
|3
|3
|24987674 (2014)<ref name=":1" />
|<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
|24987674 (2014)<ref name=":1" />, 22529291 (2012)<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>
|<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
|25636340 (2015)<ref name=":0" />, 24987674 (2014)<ref name=":1" />, 24757046 (2014)<ref name=":5" />, 22833442 (2012)<ref name=":7" />
|<ref name=":0" /> <ref name=":1" /> <ref name=":5" /> <ref name=":7" />
|-
|-
|12p
|12p
Line 396: Line 561:
|Recurrent
|Recurrent
|2
|2
|25145975 (2015)<ref name=":2" />, 22833442 (2012)<ref name=":7" />
|<ref name=":2" /> <ref name=":7" />
|-
|-
|12p13.1
|12p13.1
|Loss
|Loss
|''CDKN1B, APOLD1''
|''[[CDKN1B]], [[APOLD1]]''
|Recurrent
|Recurrent
|3
|3
|24987674 (2014)<ref name=":1" />
|<ref name=":1" />
|-
|-
| rowspan="3" |13
| rowspan="3" |13
|13q/13
| 13q/13
|Loss
|Loss
|
|
|Poor prognostic marker
|Poor prognostic marker
|1
|1
|25145975 (2015)<ref name=":2" /> 24987674 (2014)<ref name=":1" />, 22833442 (2012)<ref name=":7" />, 23010713 (2012)<ref name=":6" />, 24757046 (2014)<ref name=":5" />, 27588520 (2016)<ref name=":8" />,
|<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
|24757046 (2014)<ref name=":5" />, 24987674 (2014)<ref name=":1" />, 25636340 (2015)<ref name=":0" />
|<ref name=":0" /> <ref name=":1" /> <ref name=":5" />
|-
|-
|13q32.2
|13q32.2
|Loss
|Loss
|''TGDS''
|''[[TGDS]]''
|Recurrent
|Recurrent
|2
|2
|24429703-(2014)<ref name=":4" />
|<ref name=":4" />
|-
|-
| rowspan="5" |14
| rowspan="5" |14
|14q/14
| 14q/14
|Loss
|Loss
|
|
|Better prognostic marker
|Better prognostic marker
|2
|2
|25636340 (2015)<ref name=":0" />, 24987674 (2014)<ref name=":1" />, 25145975 (2015)<ref name=":2" />, 24757046 (2014)<ref name=":5" />, 23010713 (2012)<ref name=":6" />, 22833442 (2012)<ref name=":7" />
|<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
|23010713 (2012)<ref name=":6" />
|<ref name=":6" />
|-
|-
|14q
|14q
Line 447: Line 612:
|Recurrent
|Recurrent
|2
|2
|25145975 (2015)<ref name=":2" />, 22833442 (2012)<ref name=":7" />
|<ref name=":2" /> <ref name=":7" />
|-
|-
|14q24.1-q24.3
|14q24.1-q24.3
|Loss
|Loss
|''MLH3''
|''[[MLH3]]''
|Recurrent
|Recurrent
|2
|2
|26912802 (2016)<ref name=":3" />
|<ref name=":3" />
|-
|-
|14q32.32
|14q32.32
|Homozygous Loss
|Homozygous Loss
|''RCOR1, TRAF3, AMN, CDC42BPB''
|''[[RCOR1]], [[TRAF3]], [[AMN]], [[CDC42BPB]]''
|Recurrent
|Recurrent
|3
|3
|24987674 (2014)<ref name=":1" />
|<ref name=":1" />
|-
|-
| rowspan="2" |15
| rowspan="2" |15
Line 469: Line 634:
|Recurrent
|Recurrent
|1
|1
|24987674 (2014)<ref name=":1" />, 25145975 (2015)<ref name=":2" />, 24757046 (2014)<ref name=":5" />, 23010713 (2012)<ref name=":6" />, 22833442 (2012)<ref name=":7" />,
|<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
|26912802 (2016)<ref name=":3" />
|<ref name=":3" />
|-
|-
| rowspan="5" |16
| rowspan="5" |16
|16p11.2
|16p11.2
|Loss
|Loss
|''TP53TG3''
|''[[TP53TG3]]''
|Recurrent
|Recurrent
|3
|3
|26912802 (2016)<ref name=":3" />
|<ref name=":3" />
|-
|-
|16q
|16q
Line 491: Line 656:
|Recurrent
|Recurrent
|1
|1
|25636340 (2015)<ref name=":0" />, 24987674 (2014)<ref name=":1" />, 24757046 (2014)<ref name=":5" />, 23010713 (2012)<ref name=":6" />, 22833442 (2012)<ref name=":7" />
|<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
|24987674 (2014)<ref name=":1" />
|<ref name=":1" />
|-
|-
|16q24.3
|16q24.3
|Loss
|Loss
|CBFA2T3 and others
|''[[CBFA2T3]]'' and others
|Recurrent
|Recurrent
|3
|3
|24757046 (2014)<ref name=":5" />
|<ref name=":5" />
|-
|-
|16
|16
|cnLOH
|cnLOH
|
|
|Recurrent
| Recurrent
|2
|2
|22833442 (2012)<ref name=":7" />
|<ref name=":7" />
|-
|-
| rowspan="6" |17
| rowspan="6" |17
Line 520: Line 685:
|Recurrent
|Recurrent
|3, 3
|3, 3
|24987674 (2014)<ref name=":1" />, 23010713 (2012)<ref name=":6" />
|<ref name=":1" /> <ref name=":6" />
|-
|-
|17p
|17p
Line 527: Line 692:
|Predictive & prognostic
|Predictive & prognostic
|1
|1
|24429703-(2014)<ref name=":4" />, 24757046 (2014)<ref name=":5" />, 23010713 (2012)<ref name=":6" />, 22833442 (2012)<ref name=":7" />
|<ref name=":4" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" />
|-
|-
|17p13
| 17p13
|Loss
|Loss
|''ATP1B2, '''TP53''', WRAP5, EFNB3''
|''[[ATP1B2]], [[TP53]], [[WRAP5]], [[EFNB3]]''
|Predictive & prognostic
| Predictive & prognostic
|1
|1
|24987674 (2014)<ref name=":1" />, 27588520 (2016)<ref name=":8" />
|<ref name=":1" /> <ref name=":8" />
|-
|-
|17
|17
Line 541: Line 706:
|Recurrent
|Recurrent
|2
|2
|22833442 (2012)<ref name=":7" />
|<ref name=":7" />
|-
|-
|17q21.33 and 17qter
|17q21.33 and 17qter
Line 548: Line 713:
|Recurrent
|Recurrent
|3
|3
|24987674 (2014)<ref name=":1" />
|<ref name=":1" />
|-
|-
|17q25
|17q25
Line 555: Line 720:
|Recurrent
|Recurrent
|2
|2
|22833442 (2012)<ref name=":7" />
|<ref name=":7" />
|-
|-
|18
|18
Line 563: Line 728:
|Recurrent
|Recurrent
|2, 3
|2, 3
|24987674 (2014)<ref name=":1" />, 22833442 (2012)<ref name=":7" />
|<ref name=":1" /> <ref name=":7" />
|-
|-
| rowspan="3" |19
| rowspan="3" |19
Line 571: Line 736:
|Recurrent
|Recurrent
|2
|2
|24987674 (2014)<ref name=":1" />, 24757046 (2014)<ref name=":5" />, 23010713 (2012)<ref name=":6" />, 22833442 (2012)<ref name=":7" />
|<ref name=":1" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" />
|-
|-
|19p/ 19p13
|19p/ 19p13
|Gain
|Gain
|''ICAM4,ICAM4, IBCL2L12, TYK2, IL2,'' and ''DNMT1''
|''ICAM4, ICAM4, [[IBCL2L12]], [[TYK2]], [[IL2]]'' and ''[[DNMT1]]''
|Recurrent
|Recurrent
|3
|3
|24987674 (2014)<ref name=":1" />, 26912802 (2016)<ref name=":3" />, 24757046 (2014)<ref name=":5" />
|<ref name=":1" /> <ref name=":3" /> <ref name=":5" />
|-
|-
|19q
|19q
Line 585: Line 750:
|Recurrent
|Recurrent
|2
|2
|24987674 (2014)<ref name=":1" />, 25145975 (2015)<ref name=":2" />
|<ref name=":1" /> <ref name=":2" />
|-
|-
| rowspan="3" |20
| rowspan="3" |20
Line 593: Line 758:
|Recurrent
|Recurrent
|2
|2
|24987674 (2014)<ref name=":1" />, 22833442 (2012)<ref name=":7" />
|<ref name=":1" /> <ref name=":7" />
|-
|-
|20/20q
|20/20q
Line 600: Line 765:
|Recurrent
|Recurrent
|2
|2
|24987674 (2014)<ref name=":1" />, 22833442 (2012)<ref name=":7" />
|<ref name=":1" /> <ref name=":7" />
|-
|-
|20/20q
|20/20q
Line 607: Line 772:
|Recurrent
|Recurrent
|3
|3
|24987674 (2014)<ref name=":1" />, 23010713 (2012)<ref name=":6" />
|<ref name=":1" /> <ref name=":6" />
|-
|-
|21
|21
Line 615: Line 780:
|Recurrent
|Recurrent
|1
|1
|24987674 (2014)<ref name=":1" />, 24757046 (2014)<ref name=":5" />, 23010713 (2012)<ref name=":6" />, 22833442 (2012)<ref name=":7" />
|<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
|25636340 (2015)<ref name=":0" />, 24987674 (2014)<ref name=":1" />, 24757046 (2014)<ref name=":5" />, 23010713 (2012)<ref name=":6" />, 22833442 (2012)<ref name=":7" />
|<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
|27811368-(2016)<ref name=":9" />
|<ref name=":9" />
|-
|-
| rowspan="8" |X
| rowspan="8" |X
|X
|X
|Gain/ Loss
|Gain / Loss
|
|
|Recurrent
|Recurrent
|2
|2
|25145975 (2015)<ref name=":2" />, 22833442 (2012)<ref name=":7" />  
|<ref name=":2" /> <ref name=":7" />
|-
|-
|X
|X
Line 645: Line 810:
|Recurrent
|Recurrent
|2
|2
|25145975 (2015)<ref name=":2" />
|<ref name=":2" />
|-
|-
|Xp
|Xp
Line 652: Line 817:
|Recurrent
|Recurrent
|3
|3
|24987674 (2014)<ref name=":1" />
|<ref name=":1" />
|-
|-
|Xp22.33
|Xp22.33
|Loss
|Loss
|''SHOX, CRLF2, IL3RA''
|''[[SHOX]], [[CRLF2]], [[IL3RA]]''
|Recurrent
|Recurrent
|3
|3
|26912802 (2016)<ref name=":3" />
|<ref name=":3" />
|-
|-
|Xq
|Xq
Line 666: Line 831:
|Poor prognostic marker
|Poor prognostic marker
|2
|2
|25636340 (2015)<ref name=":0" />, 24987674 (2014)<ref name=":1" />
|<ref name=":0" /> <ref name=":1" />
|-
|-
|Xq
|Xq
Line 673: Line 838:
|Recurrent
|Recurrent
|3
|3
|24987674 (2014)<ref name=":1" />
|<ref name=":1" />
|-
|-
|Xq21.31-q21.32
|Xq21.31-q21.32
|Loss
|Loss
|''PABPC5, PCDHX''
|''[[PABPC5]], [[PCDHX]]''
|Recurrent
|Recurrent
|3
|3
|26912802 (2016)<ref name=":3" />
|<ref name=":3" />
|-
|-
|Xq27.3-q28
|Xq27.3-q28
|Gain
|Gain
|''AFF2, MTMR1, etc''
|''[[AFF2]], [[MTMR1]], etc''
|Recurrent
|Recurrent
|3
|3
|26912802 (2016)<ref name=":3" />
|<ref name=":3" />
|-
|-
|Y
|Y
Line 695: Line 860:
|
|
|2
|2
|25636340 (2015)<ref name=":0" />
|<ref name=":0" />
|-
|-
|Genome wide load of CNA > 100Mb
|Genome wide load of CNA > 100Mb
|
|
|gain/loss
|Gain / Loss
|
|
|associated with significant change in GEP at relapse
|associated with significant change in GEP at relapse
|2
|2
|27811368-(2016)<ref name=":9" />
|<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 />