Detection of recurrent cytogenetic aberrations in multiple myeloma: a comparison between MLPA and iFISH

Abstract

Multiple myeloma (MM) is a genetically heterogeneous disease with diverse clinical characteristics and outcomes. Recently, multiplex ligation-dependent probe amplification (MLPA) has emerged as an effective and robust method for the detection of cytogenetic aberrations in MM patients. In the present study, MLPA analysis was applied to analyze cytogenetics of CD138 tumor cells of 59 MM samples, and its result was compared, retrospectively, with the interphase fluorescence in situ hybridization (iFISH) data. We firstly established the normal range of each of the 42 diagnostic probes using healthy donor samples. A total of 151 aberrations were detected in 59 patient samples, and 49/59 cases (83.1%) harbored at least one copy number variation. Overall, 0-7 aberrations were detected per case using MLPA, indicating the heterogeneity and complexity of MM cytogenetics. We showed the high efficiency of MLPA and the high congruency of the two methods to assess cytogenetic aberrations. Considering that MLPA analysis is not reliable when the aberration only exits in a small population of tumor cells, it is essential to use both MLPA and iFISH as complementary techniques for the diagnosis of MM.

Keywords: cytogenetic aberration; interphase fluorescence in situ hybridization; multiple myeloma; multiplex ligation-dependent probe amplification.

Figure 1. Number of aberrations present in each case detected by MLPA in this study

Figure 2. Survival analysis in MM patients harboring specific aberration detected by MLPA

Progression free survival (PFS) of MM patients harboring del(12p) A. del(17p) B. del(13q) C. Overall survival (OS) of MM patients harboring del(12p) D. del(17p) E. del(13q) F.