Plasma Cell Neoplasms Tables: Recurrent Cytogenomic Alterations
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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 PMID (year) |
1 | 1p32 | Loss | FAF1, CDKN2C | Poor prognostic marker | 1, 2 | [1] 24987674 (2014)[2], 25145975 (2015)[3] |
1p22.2-p22.1 | Loss | BARHL2, TGFBR3, and others; HSP90B3P, TGFER3, BRDT, EPHAX4, BTBD8 | Prognostic | 1, 3 | 26912802 (2016), 24987674 (2014)[2] 25145975 (2015)[3] | |
1p21.3 | Loss | SNX7 | Recurrent | 2 | 24429703-(2014) | |
1p13.2 | Loss | MAG13(kinase), BCL2 like and others | Recurrent | 3 | 24757046 (2014) | |
1p12 | Loss | MAN1A2, FAM46C, GDAP2 | Recurrent | 2 | [1] 24987674 (2014)[2] | |
1p | cnLOH | Recurrent | 2 | 25145975 (2015)[3] | ||
1p | Loss | Recurrent | 1 | 23010713 (2012), 22833442 (2012), 24987674 (2014)[2], 27588520 (2016), 24757046 (2014) | ||
1q21.2-q23 | Gain | CKS1B and ANP32E | Recurrent | 1 | 23010713 (2012), 22833442 (2012), 24987674 (2014)[2], 27588520 (2016), 24757046 (2014) | |
1q | Gain | Poor prognostic marker | 1 | 23010713 (2012), 22833442 (2012), 24987674 (2014)[2], 24757046 (2014) | ||
2 | 2 | Gain | Recurrent | 2 | 22833442 (2012) | |
2q | Loss | Recurrent | 3 | 23010713 (2012) | ||
3 | 3 | Gain | Recurrent | 1 | 23010713 (2012), 22833442 (2012), 24987674 (2014)[2], 24757046 (2014) | |
3q21-23 | Gain | Recurrent | 2 | 25145975 (2015)[3] | ||
4 | 4p16.3 | Loss | FGFR3 and WHSC1 | Recurrent | 3 | 24987674 (2014)[2] |
4p15.2 | Loss | LGI2, SEPSECS, PI4K2B and others | Recurrent | 3 | 24987674 (2014)[2] | |
4q35.1 | Loss | DCTD, ING2, and others | Recurrent | 2 | 26912802 (2016) | |
5 | 5 | Gain | Recurrent | 1 | 22833442 (2012), 24987674 (2014)[2], 23010713 (2012), 27588520 (2016), 24757046 (2014) | |
5p | Gain | Recurrent | 3 | 24987674 (2014)[2] | ||
5p | Loss | Recurrent | 2 | 22833442 (2012) | ||
5p14.3 | Gain | CDH12,10 | Recurrent | 3 | 24757046 (2014) | |
5q | Gain | Recurrent | 2 | 25145975 (2015)[3] 24987674 (2014)[2] | ||
5q13.2 | Loss | OCLN, NAIP, and others | Recurrent | 2 | 26912802 (2016) | |
6 | 6p | Gain | Recurrent | 2 | 25636340 (2015)[1], 22833442 (2012), 24987674 (2014)[2] | |
6pter-p22.3 | Gain | Recurrent | 3 | 24987674 (2014)[2] | ||
6q | Loss | Poor prognostic marker | 2 | 25636340 (2015)[1], 22833442 (2012), 24987674 (2014)[2], 23010713 (2012), 24757046 (2014) 25145975 (2015)[3] | ||
6q11.1-q13 | Gain | MTRNR2L9 | Recurrent | 3 | 26912802 (2016) | |
6q16.3 | Loss | COQR, GRIK2 | Recurrent | 3 | 24987674 (2014)[2] | |
6q25.3 | Loss | IGFR3 | Recurrent | 3 | 24757046 (2014) | |
6q16.3 | Loss | COQR, GRIK2 | Recurrent | 3 | 24987674 (2014)[2] | |
7 | 7 | Gain | Recurrent | 1 | 22833442 (2012), 24987674 (2014)[2], 23010713 (2012), 24757046 (2014) | |
7p | Gain | Recurrent | 3 | 24987674 (2014)[2] | ||
7p15.2 | Gain | CBX3, etc | Recurrent | 3 | 26912802 (2016) | |
7q | Gain | Recurrent | 2 | 25145975 (2015)[3], 24987674 (2014)[2] | ||
8 | 8p | Loss | Recurrent | 2 | 25636340 (2015)[1], 23010713 (2012), 22833442 (2012), 24987674 (2014)[2] 25145975 (2015)[3] 24757046 (2014) | |
8p23.1 | Loss | DEFB4 and others | Recurrent | 2 | 26912802 (2016) | |
8p21.3/p21.2 | Loss | TNFRSF10B, DOCK5 and others | Recurrent | 3 | 24757046 (2014) | |
8q | Gain | Recurrent | 3 | 24987674 (2014)[2] | ||
8q24.2 | Gain/amplification and Loss | MYC | Recurrent | 2 | 24757046 (2014), 27588520 (2016), 26338801 (2016), 24987674 (2014)[2], 27811368-(2016) | |
8q24.3 | Gain | MAPK15, TOP1MT, CYP11B11 (P450), ZNF41, 616, 707 and ZNF517 | Recurrent | 3 | 24757046 (2014), 27811368-(2016) | |
9 | 9 | Gain | Recurrent | 1 | 22833442 (2012), 24987674 (2014)[2], 23010713 (2012), 24757046 (2014) | |
9p | Gain | Recurrent | 2 | 25145975 (2015)[3] 24987674 (2014)[2] | ||
9q | Gain | Recurrent | 25145975 (2015)[3] 24987674 (2014)[2] | |||
9q34.3 | Gain | ZNF79, CDK9, SET | Recurrent | 3 | 24757046 (2014) | |
10 | 10p | Loss | Recurrent | 3 | 24987674 (2014)[2] | |
10q | Loss | Recurrent | 3 | 24987674 (2014)[2] | ||
10q23.31 | Loss | PTEN | Recurrent | 2 | 16112193 (2006) | |
11 | 11 | Gain | Recurrent | 1 | 22833442 (2012), 24987674 (2014)[2], 23010713 (2012), 24757046 (2014) | |
11p | Gain | Recurrent | 3 | 24987674 (2014)[2] | ||
11q | Gain | Recurrent | 2 | 25145975 (2015)[3], 23010713 (2012) | ||
11q13.1/q13.4 | Gain | SCYL1, MAP3K11, CCND1, FGF4, FGF3, NUMA, and RELT | Recurrent | 3 | 24757046 (2014) | |
11q22 | Loss | Recurrent | 3 | 24987674 (2014)[2] | ||
11q22.1-q22.3 | Homozygous Loss | BIRC3, BIRC2, MMP cluster | Recurrent | 3 | 24987674 (2014)[2], 22529291 (2012) | |
12 | 12p | Loss | Recurrent | 2 | 25636340 (2015)[1], 22833442 (2012), 24987674 (2014)[2], 24757046 (2014) | |
12p | LOH | Recurrent | 2 | 25145975 (2015)[3], 22833442 (2012) | ||
12p13.1 | Loss | CDKN1B, APOLD1 | Recurrent | 3 | 24987674 (2014)[2] | |
13 | 13q/13 | Loss | Poor prognostic marker | 1 | 25145975 (2015)[3] 24987674 (2014)[2], 22833442 (2012), 23010713 (2012), 24757046 (2014), 27588520 (2016), 24757046 (2014), 22833442 (2012) | |
13q14.11/q14.2 | Loss | TNFSF11, RB1, P2RY5, RCBTB2 | Poor prognostic marker | 1 | 24757046 (2014), 24987674 (2014)[2], 25636340 (2015)[1] | |
13q32.2 | Loss | TGDS | Recurrent | 2 | 24429703-(2014) | |
14 | 14q/14 | Loss | Better prognostic marker | 2 | 25636340 (2015)[1], 22833442 (2012), 24987674 (2014)[2], 23010713 (2012), 24757046 (2014), 25145975 (2015)[3] | |
14q/14 | Gain | Recurrent | 3 | 23010713 (2012) | ||
14q | cnLOH | Recurrent | 2 | 25145975 (2015)[3], 22833442 (2012) | ||
14q24.1-q24.3 | Loss | MLH3 | Recurrent | 2 | 26912802 (2016) | |
14q32.32 | Homozygous Loss | RCOR1, TRAF3, AMN, CDC42BPB | Recurrent | 3 | 24987674 (2014)[2] | |
15 | 15 | Gain | Recurrent | 1 | 22833442 (2012), 24987674 (2014)[2], 23010713 (2012), 24757046 (2014) 25145975 (2015)[3] | |
15q24.1 | Gain | CYP11A1, ARID3B, CSK, etc. | Recurrent | 3 | 26912802 (2016) | |
16 | 16p11.2 | Loss | TP53TG3 | Recurrent | 3 | 26912802 (2016) |
16q | Loss | Recurrent | 1 | 25636340 (2015)[1], 23010713 (2012), 22833442 (2012), 24987674 (2014)[2], 24757046 (2014) | ||
16q12.1-q12.2 | Homozygous Loss | CYLD, SALL1 | Recurrent | 3 | 24987674 (2014)[2] | |
16q24.3 | Loss | CBFA2T3 and others | Recurrent | 3 | 24757046 (2014) | |
16 | cnLOH | Recurrent | 2 | 22833442 (2012) | ||
17 | 17p/17 | Gain | Recurrent | 3, 3 | 23010713 (2012), 24987674 (2014)[2] | |
17p | Loss | Predictive & prognostic | 1 | 22833442 (2012), 23010713 (2012), 24757046 (2014), 24429703-(2014) | ||
17p13 | Loss | ATP1B2, TP53, WRAP5, EFNB3 | Predictive & prognostic | 1 | 24987674 (2014)[2], 27588520 (2016) | |
17 | cnLOH | Recurrent | 2 | 22833442 (2012) | ||
17q21.33 and 17qter | Gain | Recurrent | 3 | 24987674 (2014)[2] | ||
17q25 | Gain | Recurrent | 2 | 22833442 (2012) | ||
18 | 18 | Gain | Recurrent | 2, 3 | 22833442 (2012), 24987674 (2014)[2] | |
19 | 19 | Gain | Recurrent | 2 | 22833442 (2012), 24987674 (2014)[2], 23010713 (2012), 24757046 (2014), 23010713 (2012) | |
19p/ 19p13 | Gain | ICAM4,ICAM4, IBCL2L12, TYK2, IL2, and DNMT1 | Recurrent | 3 | 24987674 (2014)[2], 26912802 (2016), 24757046 (2014) | |
19q | Gain | Recurrent | 2 | 24987674 (2014)[2], 25145975 (2015)[3] | ||
20 | 20p | Loss | Recurrent | 2 | 22833442 (2012), 24987674 (2014)[2] | |
20/20q | Gain | Recurrent | 2 | 22833442 (2012), 24987674 (2014)[2] | ||
20/20q | Loss | Recurrent | 3 | 24987674 (2014)[2], 23010713 (2012) | ||
21 | 21 | Gain | Recurrent | 1 | 22833442 (2012), 24987674 (2014)[2], 23010713 (2012), 24757046 (2014) | |
22 | 22 | Loss | Recurrent | 2 | 25636340 (2015)[1], 23010713 (2012), 22833442 (2012), 24987674 (2014)[2], 24757046 (2014) | |
22q21 | mostly Gain | PRAME | Recurrent, Associated with relapse | 2 | 27811368-(2016) | |
X | X | Gain/ Loss | Recurrent | 2 | 22833442 (2012), 25145975 (2015)[3] | |
X | LOH | Recurrent | 2 | 25145975 (2015)[3] | ||
Xp | Loss | Recurrent | 3 | 24987674 (2014)[2] | ||
Xp22.33 | Loss | SHOX, CRLF2, IL3RA | Recurrent | 3 | 26912802 (2016) | |
Xq | Gain (in males) | Poor prognostic marker | 2 | 25636340 (2015)[1], 24987674 (2014)[2] | ||
Xq | Loss | Recurrent | 3 | 24987674 (2014)[2] | ||
Xq21.31-q21.32 | Loss | PABPC5, PCDHX | Recurrent | 3 | 26912802 (2016) | |
Xq27.3-q28 | Gain | AFF2, MTMR1, etc | Recurrent | 3 | 26912802 (2016) | |
Y | Y | Loss | 2 | 25636340 (2015)[1] | ||
Genome wide load of CNA > 100Mb | gain/loss | associated with significant change in GEP at relapse | 2 | 27811368-(2016) |
- ↑ 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)
- ↑ 2.00 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 2.55 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)
- ↑ 3.00 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.