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

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'''Table 1 - Recurrent Abnormalities of copy number aberration (CNAs) and copy-neutral loss-of-heterozygosity (cnLOH) in plasma cell myeloma (Literature Review)'''. Summary table reviewing 65 papers applying FISH, CMA, NGS, and gene expression profiling for PCN diagnosis and prognosis. Table derived from Pugh et al., 2018 [PMID 30393007] with permission from Cancer Genetics.
+
'''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 7: 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
Line 15: Line 186:
 
|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
Line 22: Line 193:
 
|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
Line 29: Line 200:
 
|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
Line 42: Line 213:
 
|''[[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 50: Line 221:
 
|Recurrent
 
|Recurrent
 
|2
 
|2
−
|25145975 (2015)<ref name=":2" />
+
|<ref name=":2" />
 
|-
 
|-
 
|1p
 
|1p
Line 57: 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
Line 63: Line 234:
 
|''[[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 79: Line 250:
 
|Recurrent
 
|Recurrent
 
|2
 
|2
−
|22833442 (2012)<ref name=":7" />
+
|<ref name=":7" />
 
|-
 
|-
 
|2q
 
|2q
Line 86: Line 257:
 
|Recurrent
 
|Recurrent
 
|3
 
|3
−
|23010713 (2012)<ref name=":6" />
+
|<ref name=":6" />
 
|-
 
|-
 
| rowspan="2" |3
 
| rowspan="2" |3
Line 94: 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 101: Line 272:
 
|Recurrent
 
|Recurrent
 
|2
 
|2
−
|25145975 (2015)<ref name=":2" />
+
|<ref name=":2" />
 
|-
 
|-
 
| rowspan="3" |4
 
| rowspan="3" |4
Line 109: Line 280:
 
|Recurrent
 
|Recurrent
 
|3
 
|3
−
|24987674 (2014)<ref name=":1" />
+
|<ref name=":1" />
 
|-
 
|-
 
|4p15.2
 
|4p15.2
Line 116: Line 287:
 
|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 138: Line 309:
 
|Recurrent
 
|Recurrent
 
|3
 
|3
−
|24987674 (2014)<ref name=":1" />
+
|<ref name=":1" />
 
|-
 
|-
 
|5p
 
|5p
Line 145: 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 158: 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 174: 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 181: Line 352:
 
|Recurrent
 
|Recurrent
 
|3
 
|3
−
|24987674 (2014)<ref name=":1" />
+
|<ref name=":1" />
 
|-
 
|-
 
|6q
 
|6q
Line 188: 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
Line 195: Line 366:
 
|Recurrent
 
|Recurrent
 
|3
 
|3
−
|26912802 (2016)<ref name=":3" />
+
|<ref name=":3" />
 
|-
 
|-
 
|6q16.3
 
|6q16.3
Line 202: Line 373:
 
|Recurrent
 
|Recurrent
 
|3
 
|3
−
|24987674 (2014)<ref name=":1" />
+
|<ref name=":1" />
 
|-
 
|-
 
|6q25.3
 
|6q25.3
Line 209: Line 380:
 
|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 224: 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 231: 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 245: 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 253: 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
Line 267: Line 431:
 
|Recurrent
 
|Recurrent
 
|3
 
|3
−
|24757046 (2014)<ref name=":5" />  
+
|<ref name=":5" />
 
|-
 
|-
 
|8q
 
|8q
Line 273: Line 437:
 
|
 
|
 
|Recurrent
 
|Recurrent
−
|3
+
| 3
−
|24987674 (2014)<ref name=":1" />
+
|<ref name=":1" />
 
|-
 
|-
 
|8q24.2
 
|8q24.2
Line 281: Line 445:
 
|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 296: 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 310: 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 325: Line 489:
 
|Recurrent
 
|Recurrent
 
|3
 
|3
−
|24987674 (2014)<ref name=":1" />
+
|<ref name=":1" />
 
|-
 
|-
 
|10q
 
|10q
Line 332: 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 347: 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 354: Line 518:
 
|Recurrent
 
|Recurrent
 
|3
 
|3
−
|24987674 (2014)<ref name=":1" />
+
|<ref name=":1" />
 
|-
 
|-
 
|11q
 
|11q
Line 361: 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 375: 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 390: 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 397: 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 441: Line 605:
 
|Recurrent
 
|Recurrent
 
|3
 
|3
−
|23010713 (2012)<ref name=":6" />
+
|<ref name=":6" />
 
|-
 
|-
 
|14q
 
|14q
Line 448: 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 470: 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 492: 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 521: 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 528: 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 542: Line 706:
 
|Recurrent
 
|Recurrent
 
|2
 
|2
−
|22833442 (2012)<ref name=":7" />
+
|<ref name=":7" />
 
|-
 
|-
 
|17q21.33 and 17qter
 
|17q21.33 and 17qter
Line 549: Line 713:
 
|Recurrent
 
|Recurrent
 
|3
 
|3
−
|24987674 (2014)<ref name=":1" />
+
|<ref name=":1" />
 
|-
 
|-
 
|17q25
 
|17q25
Line 556: Line 720:
 
|Recurrent
 
|Recurrent
 
|2
 
|2
−
|22833442 (2012)<ref name=":7" />
+
|<ref name=":7" />
 
|-
 
|-
 
|18
 
|18
Line 564: 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 572: 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 586: 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 594: 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 601: 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 608: 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 616: 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 624: 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 646: Line 810:
 
|Recurrent
 
|Recurrent
 
|2
 
|2
−
|25145975 (2015)<ref name=":2" />
+
|<ref name=":2" />
 
|-
 
|-
 
|Xp
 
|Xp
Line 653: 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 667: 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 674: 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 696: 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
 
cnLOH = copy neutral LOH, LOH = Loss of Heterozygosity, GEP = Gene Expression Profile

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. ↑ 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. ↑ 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. ↑ 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. ↑ 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. ↑ 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. ↑ 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. ↑ 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. ↑ 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. ↑ 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)
  10. ↑ 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. ↑ 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)
  12. ↑ H, Chang; et al. (2006). "Analysis of PTEN deletions and mutations in multiple myeloma". PMID 16112193.
  13. ↑ 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)
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