Analysis of chromosomal abnormalities in phenotypically normal plasma cells detected by I-FISH in monoclonal gammopathy of undetermined significance

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Authors

MIKULÁŠOVÁ Aneta KUGLÍK Petr SMETANA Jan GREŠLIKOVÁ Henrieta KUPSKÁ Renata NĚMEC Pavel ŘÍHOVÁ Lucie KLINCOVÁ Mária HÁJEK Roman

Year of publication 2012
Type Conference abstract
MU Faculty or unit

Faculty of Medicine

Citation
Description Monoclonal gammopathy of undetermined significance (MGUS) is a premalignant stage of multiple myeloma. MGUS consists of phenotypically normal (nPCs; CD138+19+56-) and abnormal malign plasma cells (aPCs; CD138+19-56+/-). Combination of fluorescence activated cell sorting (FACS) and interphase fluorescence in situ hybridization (I-FISH) allows monitoring of specific chromosomal abnormalities in separate PCs populations. We hypothesized that there should not be any chromosomal abnormalities in nPCs. By I-FISH we examined following chromosomal alterations in nPCs and aPCs: del(13)(q14), del(17)(p13), IGH rearrangement, 1q21 gain and hyperdiploidy (+5, +9 and +15). In this study, we chose MGUS patients from whom it was possible to separate nPCs and aPCs and who had IGH rearrangement in aPCs (n=15). In the nPCs we found only IGH disruption. Total of 27% (4/15) and 73% (11/15) MGUS patients have more than 20% and 10% aberrant PCs bearing IGH rearrangement not only in aPCs, but also in nPCs, respectively. Other chromosomal abnormalities were detected only in aPCs: del(13)(q14) was found in 20% (3/15), 1q21 gain in 7% (1/15) and hyperdiploidy in 13% (2/15). In conclusion, we found IGH rearrangement in phenotypically nPCs defined by CD138+CD19+CD56- and thus we assume that the separation according to this phenotype is not sufficinent to separate genetically nPCs.
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