Jumping translocations of 1q12 in multiple myeloma: a novel mechanism for deletion of 17p in cytogenetically defined high-risk disease

摘要: Multiple myeloma (MM) is a B-cell malignancy driven in part by increasing copy number alterations (CNAs) during disease progression. Prognostically significant CNAs accumulate clonal evolution and include gains of 1q21 deletions 17p, among others. Unfortunately, the mechanisms underlying accumulation resulting subclonal heterogeneity high-risk MM are poorly understood. To investigate impact jumping translocations 1q12 (JT1q12) on receptor chromosomes (RCs) subsequent evolution, we analyzed specimens from 86 patients selected for unbalanced aberrations G-banding. Utilizing spectral karyotyping locus-specific fluorescence situ hybridization, identified 10 with unexpected focal amplifications an RC that subsequently translocated as sequential JT1q12 to one or more additional RCs. Four exhibited amplification translocation 8q24 (MYC), 3 showed 16q11, 1 each displayed 18q21.3 (BCL2), 18q23, 4p16 (FGFR3). Unexpectedly, 6 14 combination t(4;14) deletion loss 17p JT1q12. Here, provide evidence mechanism simultaneous gain cytogenetically defined disease.