Predicting cytogenetic risk in multiple myeloma using conventional whole-body MRI, spinal dynamic contrast-enhanced MRI, and spinal diffusion-weighted imaging

Van Den Berghe, Thomas; Verberckmoes, Bert; Kint, Nicolas; Wallaert, Steven; De Vos, Nicolas; Algoet, Chloé; Behaeghe, Maxim; Dutoit, Julie; Van Roy, Nadine; Vlummens, Philip; Dendooven, Amélie; Van Dorpe, Jo; Offner, Fritz; Verstraete, Koenraad

doi:10.1186/s13244-024-01672-1

Insights into Imaging

Table 2 Cytogenetic abnormalities with associated genes and frequency in multiple myeloma and differences between intermediate-/high-risk and standard-risk cytogenetics. For high-risk cytogenetic abnormalities, the presence of two high-risk factors is considered double-hit myeloma. Three or more high-risk factors is considered triple-hit myeloma [5, 7, 9, 10, 15, 19,20,21,22,23,24, 26, 46,47,48,49,50,51,52,53]

From: Predicting cytogenetic risk in multiple myeloma using conventional whole-body MRI, spinal dynamic contrast-enhanced MRI, and spinal diffusion-weighted imaging

Intermediate-/high-risk cytogenetics and CAs (25%)			Standard-risk cytogenetics and CAs (75%)
Abnormality	Gene(s)	Frequency	Abnormality	Gene(s)	Frequency
GENERAL: non-hyperdiploid^{d, h, k}			GENERAL: hyperdiploid^d
t(4;14)(p16;q32)^{c, d, g, h, k}	FGFR3/MMSET	6–15%	t(11;14)(q13;q32)^{c, d}	CCND1		15–20%
t(14;16)(q32;q23)^{c, d, g, i, k}	C-MAF/CCND2	1–7%	t(6;14)(p21;q32)^{c, d}	CCND3		1–5%
t(14;20)(q32;q11)^{c, d, i, k}	MAFB/CCND2	1–2%	trisomy odd Cx^{b, d}	NA / multiple		42–50%
del(1p22/32)^{f, k}	CDKN2C/FAF1/FAM46C	20–30%
del(17(p13))^{a, f, g, i, k}	TP53	5–11%
gain(3 copies)/amp(≥ 4 copies)(1q21)^{f, g, i, k}	MCL1/CKS1B/ANP32E/BCL9	35–40%
del(6q,8p,13q14^{j, k},13^h,j, 11q, 12p,14q,16q)^f	RB1/DIS3/BIRC2 BIRC3/TRAF3/WWOX CYLD/EBPL/CD27/mir	7–44%^e

amp Amplification, ANP32E Acidic nuclear phosphoprotein 32 family member E, BCL9 B-cell lymphoma 9, BIRC Baculoviral IAP repeat-containing, CA Cytogenetic abnormality, CCND Cyclin D, CDKN2C Cyclin-dependent kinase inhibitor 2C, CKS1B Cyclin-dependent kinase regulatory subunit 1B, Cx Chromosome, CYLD Cylindromatosis lysine 63 deubiquitinase, del Deletion, DIS3 Defective in sister chromatid joining 3, EBPL Emopamil-binding protein-like, FAF1 FAS-associated factor 1, FAM46C Family with sequence similarity 46 member C, FGFR3 Fibroblast growth factor receptor 3, MAF v-maf musculoaponeurotic fibrosarcoma oncogene homolog, MCL1 Myeloid cell leukemia sequence 1, MMSET Multiple myeloma SET domain, NA Not available, RB1 Retinoblastoma 1, t(x;y) Chromosomal translocation (x,y), TP53 Tumor protein P53, TRAF3 Tumor necrosis factor receptor associated factor 3, WWOX WW domain-containing oxidoreductase
^aTP53 locus; ^b3,5,7,9,11,15,19; ^cIgH translocations; ^dprimary genetic events in multiple myeloma consisting of the IgH translocation group and the hyperdiploidy group; ^e6q (33%), 8p (25%), 13 (44%), 11q (7%), 12p (15%), 14q (38%), 16q (35%); ^fsecondary or progression genetic events in multiple myeloma consisting of the deletion and gain group; ^ghigh-risk cytogenetic abnormalities according to the R2-ISS (Second Revision of the International Staging System); ^hintermediate-risk cytogenetic abnormalities according to the (updated) mSMART criteria (Mayo Clinic Risk Stratification for multiple myeloma, 20%); ⁱhigh-risk cytogenetic abnormalities according to the (updated) mSMART criteria (Mayo Clinic Risk Stratification for multiple myeloma, 20%); ^jin chromosome 13 changes, a monosomy 13 accounts for 85–90% of alterations and del(13q14) for 10–15%. All chromosome 13 alterations are strongly correlated with other high-risk genetic features such as t(4;14)(p16;q32), del(17p13), or high serum β2-microglobulin; ^khigh-risk cytogenetic abnormalities according to the IMWG (International Myeloma Working Group) 2016 Consensus Statement on treatment of multiple myeloma with high-risk cytogenetics

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