3,883
edits
Changes
Plasma Cell Neoplasms Tables: Recurrent Cytogenomic Alterations (view source)
Revision as of 16:42, 22 April 2021
, 16:42, 22 April 2021Jennelleh moved page TestPCDtable to Plasma Cell Neoplasms Tables: Recurrent Cytogenomic Alterations without leaving a redirect
'''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'''
|'''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
|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
|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
|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
|''[[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
|Recurrent
|Recurrent
|2
|2
|25145975 (2015)<ref name=":2" />
|<ref name=":2" />
|-
|-
|1p
|1p
|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
|''[[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
|Recurrent
|Recurrent
|2
|2
|22833442 (2012)<ref name=":7" />
|<ref name=":7" />
|-
|-
|2q
|2q
|Recurrent
|Recurrent
|3
|3
|23010713 (2012)<ref name=":6" />
|<ref name=":6" />
|-
|-
| rowspan="2" |3
| rowspan="2" |3
|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
|Recurrent
|Recurrent
|2
|2
|25145975 (2015)<ref name=":2" />
|<ref name=":2" />
|-
|-
| rowspan="3" |4
| rowspan="3" |4
|Recurrent
|Recurrent
|3
|3
|24987674 (2014)<ref name=":1" />
|<ref name=":1" />
|-
|-
|4p15.2
|4p15.2
|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
|Recurrent
|Recurrent
|3
|3
|24987674 (2014)<ref name=":1" />
|<ref name=":1" />
|-
|-
|5p
|5p
|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
|
|
|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
|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
|Recurrent
|Recurrent
|3
|3
|24987674 (2014)<ref name=":1" />
|<ref name=":1" />
|-
|-
|6q
|6q
|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
|Recurrent
|Recurrent
|3
|3
|26912802 (2016)<ref name=":3" />
|<ref name=":3" />
|-
|-
|6q16.3
|6q16.3
|Recurrent
|Recurrent
|3
|3
|24987674 (2014)<ref name=":1" />
|<ref name=":1" />
|-
|-
|6q25.3
|6q25.3
|Recurrent
|Recurrent
|3
|3
|24757046 (2014)<ref name=":5" />
|<ref name=":5" />
|-
|-
| rowspan="4" |7
| rowspan="4" |7
|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
|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
|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
|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
|Recurrent
|Recurrent
|3
|3
|24757046 (2014)<ref name=":5" />
|<ref name=":5" />
|-
|-
|8q
|8q
|
|
|Recurrent
|Recurrent
|3
| 3
|24987674 (2014)<ref name=":1" />
|<ref name=":1" />
|-
|-
|8q24.2
|8q24.2
|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
|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
|Recurrent
|Recurrent
|
|
|24987674 (2014)<ref name=":1" />, 25145975 (2015)<ref name=":2" />
|<ref name=":1" /> <ref name=":2" />
|-
|-
|9q34.3
|9q34.3
|Recurrent
|Recurrent
|3
|3
|24757046 (2014)<ref name=":5" />
|<ref name=":5" />
|-
|-
| rowspan="3" |10
| rowspan="3" |10
|Recurrent
|Recurrent
|3
|3
|24987674 (2014)<ref name=":1" />
|<ref name=":1" />
|-
|-
|10q
|10q
|Recurrent
|Recurrent
|3
|3
|24987674 (2014)<ref name=":1" />
|<ref name=":1" />
|-
|-
|10q23.31
|10q23.31
|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
|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
|Recurrent
|Recurrent
|3
|3
|24987674 (2014)<ref name=":1" />
|<ref name=":1" />
|-
|-
|11q
|11q
|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
|Recurrent
|Recurrent
|3
|3
|24987674 (2014)<ref name=":1" />
|<ref name=":1" />
|-
|-
|11q22.1-q22.3
|11q22.1-q22.3
|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
|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
|Recurrent
|Recurrent
|2
|2
|25145975 (2015)<ref name=":2" />, 22833442 (2012)<ref name=":7" />
|<ref name=":2" /> <ref name=":7" />
|-
|-
|12p13.1
|12p13.1
|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
|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
|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
|Recurrent
|Recurrent
|3
|3
|23010713 (2012)<ref name=":6" />
|<ref name=":6" />
|-
|-
|14q
|14q
|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
|Recurrent
|Recurrent
|2
|2
|26912802 (2016)<ref name=":3" />
|<ref name=":3" />
|-
|-
|14q32.32
|14q32.32
|Recurrent
|Recurrent
|3
|3
|24987674 (2014)<ref name=":1" />
|<ref name=":1" />
|-
|-
| rowspan="2" |15
| rowspan="2" |15
|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
|Recurrent
|Recurrent
|3
|3
|26912802 (2016)<ref name=":3" />
|<ref name=":3" />
|-
|-
| rowspan="5" |16
| rowspan="5" |16
|Recurrent
|Recurrent
|3
|3
|26912802 (2016)<ref name=":3" />
|<ref name=":3" />
|-
|-
|16q
|16q
|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
|Recurrent
|Recurrent
|3
|3
|24987674 (2014)<ref name=":1" />
|<ref name=":1" />
|-
|-
|16q24.3
|16q24.3
|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
|Recurrent
|Recurrent
|3, 3
|3, 3
|24987674 (2014)<ref name=":1" />, 23010713 (2012)<ref name=":6" />
|<ref name=":1" /> <ref name=":6" />
|-
|-
|17p
|17p
|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
|Recurrent
|Recurrent
|2
|2
|22833442 (2012)<ref name=":7" />
|<ref name=":7" />
|-
|-
|17q21.33 and 17qter
|17q21.33 and 17qter
|Recurrent
|Recurrent
|3
|3
|24987674 (2014)<ref name=":1" />
|<ref name=":1" />
|-
|-
|17q25
|17q25
|Recurrent
|Recurrent
|2
|2
|22833442 (2012)<ref name=":7" />
|<ref name=":7" />
|-
|-
|18
|18
|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
|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
|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
|Recurrent
|Recurrent
|2
|2
|24987674 (2014)<ref name=":1" />, 22833442 (2012)<ref name=":7" />
|<ref name=":1" /> <ref name=":7" />
|-
|-
|20/20q
|20/20q
|Recurrent
|Recurrent
|2
|2
|24987674 (2014)<ref name=":1" />, 22833442 (2012)<ref name=":7" />
|<ref name=":1" /> <ref name=":7" />
|-
|-
|20/20q
|20/20q
|Recurrent
|Recurrent
|3
|3
|24987674 (2014)<ref name=":1" />, 23010713 (2012)<ref name=":6" />
|<ref name=":1" /> <ref name=":6" />
|-
|-
|21
|21
|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
|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
|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
|Recurrent
|Recurrent
|2
|2
|25145975 (2015)<ref name=":2" />
|<ref name=":2" />
|-
|-
|Xp
|Xp
|Recurrent
|Recurrent
|3
|3
|24987674 (2014)<ref name=":1" />
|<ref name=":1" />
|-
|-
|Xp22.33
|Xp22.33
|Recurrent
|Recurrent
|3
|3
|26912802 (2016)<ref name=":3" />
|<ref name=":3" />
|-
|-
|Xq
|Xq
|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
|Recurrent
|Recurrent
|3
|3
|24987674 (2014)<ref name=":1" />
|<ref name=":1" />
|-
|-
|Xq21.31-q21.32
|Xq21.31-q21.32
|Recurrent
|Recurrent
|3
|3
|26912802 (2016)<ref name=":3" />
|<ref name=":3" />
|-
|-
|Xq27.3-q28
|Xq27.3-q28
|Recurrent
|Recurrent
|3
|3
|26912802 (2016)<ref name=":3" />
|<ref name=":3" />
|-
|-
|Y
|Y
|
|
|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