The Utilization of Karyotyping, iFISH, and MLPA for the Detection of Recurrence Genetic Aberrations in Multiple Myeloma

Abstract

<br /> <span style="font-size: small;">Multiple myeloma (MM) is a hematological malignancy characterized by abnormal accumulation of clonal plasma </span><span style="font-family: Times New Roman,Times New Roman; font-size: small;"><span style="font-family: Times New Roman,Times New Roman; font-size: small;">cells in the bone marrow. Recently, multiplex ligation-dependent probe amplification (MLPA) has emerged as an effective and robust method for detection of common genetic alterations in MM patients. Here, we aimed to confirm MLPA utility for this purpose and furthermore to test the feasibility of a combination of karyotyping, interphase fluorescence in situ hybridization (iFISH) and MLPA methods for diagnosis, prognostic assessment and risk stratification of MM. Thirty-five genomic DNA samples isolated from CD138-enriched plasma cells from bone marrow of MM patients were analyzed using the MLPA method. We found that amp (1q) was the most frequent genetic alteration (48.6%) in the tested samples, followed by del (1p) and del (13q) (34.3%). Moreover, concordant results between sensitivity and specificity of iFISH and MLPA for the detection of del (13q) (p-value >0.05) and del (17p) (p-value >0.05) were obtained. In summary, we could provide evidence of MLPA assay utility for the detection of common genetic alterations in MM. The combination of karyotyping, iFISH, and MLPA proved very helpful for clinical risk stratification. </span></span>