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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'''
|''[[MAN1A2]], [[FAM46C]], [[GDAP2]]''
|''[[MAN1A2]], [[FAM46C]], [[GDAP2]]''
|Recurrent
|Recurrent
|2
| 2
|<ref name=":0" /> <ref name=":1" />
|<ref name=":0" /> <ref name=":1" />
|-
|-
|''[[CKS1B]]'' and ''[[ANP32E]]''
|''[[CKS1B]]'' and ''[[ANP32E]]''
|Recurrent
|Recurrent
|1
| 1
|<ref name=":1" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" /> <ref name=":8" />
|<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
| rowspan="6" |5
| rowspan="6" |5
|5
|5
|Gain
| Gain
|
|
|Recurrent
|Recurrent
|
|
|Recurrent
|Recurrent
|2
| 2
|<ref name=":1" /> <ref name=":2" />
|<ref name=":1" /> <ref name=":2" />
|-
|-
|Loss
|Loss
|''[[OCLN]], [[NAIP]]'' and others
|''[[OCLN]], [[NAIP]]'' and others
|Recurrent
| Recurrent
|2
|2
|<ref name=":3" />
|<ref name=":3" />
|<ref name=":0" /> <ref name=":1" /> <ref name=":2" /> <ref name=":5" /> <ref name=":6" /> <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
|3
| 3
|<ref name=":1" />
|<ref name=":1" />
|-
|-
|-
|-
|8q24.3
|8q24.3
|Gain
| Gain
|''[[MAPK15]], [[TOP1MT]], [[CYP11B11]] (P450), [[ZNF41]], [[ZNF517]], [[ZNF616]]'' and ''[[ZNF707]]''
|''[[MAPK15]], [[TOP1MT]], [[CYP11B11]] (P450), [[ZNF41]], [[ZNF517]], [[ZNF616]]'' and ''[[ZNF707]]''
|Recurrent
|Recurrent
|3
|3
|<ref name=":1" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" />
|<ref name=":1" /> <ref name=":5" /> <ref name=":6" /> <ref name=":7" />
|-
|-
|9p
| 9p
|Gain
|Gain
|
|
|<ref name=":2" /> <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]]''
|-
|-
| rowspan="3" |13
| rowspan="3" |13
|13q/13
| 13q/13
|Loss
|Loss
|
|
|-
|-
| rowspan="5" |14
| rowspan="5" |14
|14q/14
| 14q/14
|Loss
|Loss
|
|
|cnLOH
|cnLOH
|
|
|Recurrent
| Recurrent
|2
|2
|<ref name=":7" />
|<ref name=":7" />
|<ref name=":4" /> <ref name=":5" /> <ref name=":6" /> <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
|<ref name=":1" /> <ref name=":8" />
|<ref name=":1" /> <ref name=":8" />