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

'''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.

 

 

 

 

 

 

'''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.

|'''References'''

|''[[FAF1]], [[CDKN2C]]''

|<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>

|''[[BARHL2]], [[TGFBR3]], and others; [[HSP90B3P]], [[TGFER3]], [[BRDT]], [[EPHAX4]], [[BTBD8]]''

|<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>

|''[[SNX7]]''

|<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>

|''[[MAGI3]]'', BCL2 like and others

|<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>

|''[[MAN1A2]], [[FAM46C]], [[GDAP2]]''

| 2

|<ref name=":0" /> <ref name=":1" />

|<ref name=":2" />

|<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>

|''[[CKS1B]]'' and ''[[ANP32E]]''

| 1

|<ref name=":1" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" /> <ref name=":8" />

| Gain

|<ref name=":1" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" />

|<ref name=":7" />

|<ref name=":6" />

|<ref name=":1" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" />

|<ref name=":2" />

|''[[FGFR3]]'' and ''[[WHSC1]]''

|<ref name=":1" />

|''[[LGI2]], [[SEPSECS]], [[PI4K2B]]'' and others

|<ref name=":1" />

|''[[DCTD]], [[ING2]]'' and others

|<ref name=":3" />

| Gain

|<ref name=":1" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" /> <ref name=":8" />

|<ref name=":1" />

|<ref name=":7" />

|''[[CDH10]], [[CDH12]]''

|<ref name=":5" />

| 2

|<ref name=":1" /> <ref name=":2" />

|''[[OCLN]], [[NAIP]]'' and others

| Recurrent

|<ref name=":3" />

| rowspan="6" |6

|<ref name=":0" /> <ref name=":1" /> <ref name=":7" />

|<ref name=":1" />

|<ref name=":0" /> <ref name=":1" /> <ref name=":2" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" />

|''[[MTRNR2L9]]''

|<ref name=":3" />

|''[[COQR]], [[GRIK2]]''

|<ref name=":1" />

|''[[IGFR3]]''

|<ref name=":5" />

|<ref name=":1" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" />

|<ref name=":1" />

|''[[CBX3]]'', etc

|<ref name=":3" />

|<ref name=":1" /> <ref name=":2" />

|<ref name=":0" /> <ref name=":1" /> <ref name=":2" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" />

| 8p23.1

|''[[DEFB4]]'' and others

|<ref name=":3" />

|''[[TNFRSF10B]], [[DOCK5]]'' and others

|<ref name=":5" />

| 3

|<ref name=":1" />

|''[[MYC]]''

|<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>

| Gain

|''[[MAPK15]], [[TOP1MT]], [[CYP11B11]] (P450), [[ZNF41]], [[ZNF517]], [[ZNF616]]'' and ''[[ZNF707]]''

|<ref name=":5" /> <ref name=":9" />

|<ref name=":1" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" />

| 9p

|<ref name=":1" /> <ref name=":2" />

|<ref name=":1" /> <ref name=":2" />

|''[[ZNF79]], [[CDK9]], SET''

|<ref name=":5" />

|<ref name=":1" />

|<ref name=":1" />

|''[[PTEN]]''

|<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 name=":1" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" />

|<ref name=":1" />

|<ref name=":2" /> <ref name=":6" />

| 11q13.1/q13.4

|''[[SCYL1]], [[MAP3K11]], [[CCND1]], [[FGF4]], [[FGF3]], [[NUMA]]'' and ''[[RELT]]''

|<ref name=":5" />

|<ref name=":1" />

|[[BIRC3]], [[BIRC2]], MMP cluster

|<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>

|<ref name=":0" /> <ref name=":1" /> <ref name=":5" /> <ref name=":7" />

|<ref name=":2" /> <ref name=":7" />

|''[[CDKN1B]], [[APOLD1]]''

|<ref name=":1" />

| 13q/13

|<ref name=":1" /> <ref name=":2" /> <ref name=":7" /> <ref name=":6" /> <ref name=":5" /> <ref name=":8" />

|''[[TNFSF11]], [[RB1]], [[P2RY5]], [[RCBTB2]]''

|<ref name=":0" /> <ref name=":1" /> <ref name=":5" />

|''[[TGDS]]''

|<ref name=":4" />

| 14q/14

|<ref name=":0" /> <ref name=":1" /> <ref name=":2" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" />

|<ref name=":6" />

|<ref name=":2" /> <ref name=":7" />

|''[[MLH3]]''

|<ref name=":3" />

|''[[RCOR1]], [[TRAF3]], [[AMN]], [[CDC42BPB]]''

|<ref name=":1" />

|<ref name=":1" /> <ref name=":2" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" />

|''[[CYP11A1]], [[ARID3B]], [[CSK]], etc.''

|<ref name=":3" />

|''[[TP53TG3]]''

|<ref name=":3" />

|<ref name=":0" /> <ref name=":1" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" />

|''[[CYLD]], [[SALL1]]''

|<ref name=":1" />

|''[[CBFA2T3]]'' and others

|<ref name=":5" />

| Recurrent

|<ref name=":7" />

|<ref name=":1" /> <ref name=":6" />

|<ref name=":4" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" />

| 17p13

|''[[ATP1B2]], [[TP53]], [[WRAP5]], [[EFNB3]]''

| Predictive & prognostic

|<ref name=":1" /> <ref name=":8" />

|<ref name=":7" />

|<ref name=":1" />

|<ref name=":7" />

|<ref name=":1" /> <ref name=":7" />

|<ref name=":1" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" />

|''ICAM4, ICAM4, [[IBCL2L12]], [[TYK2]], [[IL2]]'' and ''[[DNMT1]]''

|<ref name=":1" /> <ref name=":3" /> <ref name=":5" />

|<ref name=":1" /> <ref name=":2" />

|<ref name=":1" /> <ref name=":7" />

|<ref name=":1" /> <ref name=":7" />

|<ref name=":1" /> <ref name=":6" />

|<ref name=":1" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" />

|<ref name=":0" /> <ref name=":1" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" />

|''[[PRAME]]''

|<ref name=":9" />

|Gain / Loss

|<ref name=":2" /> <ref name=":7" />

|<ref name=":2" />

|<ref name=":1" />

|''[[SHOX]], [[CRLF2]], [[IL3RA]]''

|<ref name=":3" />

|<ref name=":0" /> <ref name=":1" />

|<ref name=":1" />

|''[[PABPC5]], [[PCDHX]]''

|<ref name=":3" />

|''[[AFF2]], [[MTMR1]], etc''

|<ref name=":3" />

|<ref name=":0" />

|Gain / Loss

|<ref name=":9" />

Level 3: presumptive evidence (multiple case reports or expert opinion)

 

<references />