Study on chromosomal aberrations in patients with multiple myeloma by fluorescence in situhybridization / 白血病·淋巴瘤

ABSTRACT

ObjectiveTo explore the genetic abnormalities of multiple myeloma (MM)patients by fluorescence in situ hybridization (FISH).MethodsWith the application of FISH,sequence specific DNA probes (IGH,DI3S319/p53 and 1q21/RB1) were applied to detect 14q32 rearrangement,del(13q14),del (17p13)and gain of lq21.Forty-four MM patients were enrolled in this study.ResultsThirty-two cases (72.7 ％) detected by FISH had genetic abnormality in 44 cases,lq21 amplification was observed in 11 cases (25.0 ％),while RB1 deletion in 17 cases (38.6 ％),D13S319 deletion in 16 cases (36.4 ％),p53 deletion in 6 cases(13.6 ％)and 14q32 translocation in 19 cases(43.2 ％).The patients with one abnormality was detected in 10 cases(22.7 ％),two abnormalities in 11 cases(25.0 ％),three abnormalities in 8 cases (18.2 ％),4 abnormalities in 3 cases(6.8 ％).28 were found to undergo split-phase by conventional cytogenetic in 44 patients.The patients with genetic abnormalities detected by conventional G-banding was 2 cases (7.14 ％),the difference with that in FISH was significant (P ＜0.05).Genetic abnormalities compared with clinical parameters showed that β2-MG in IGH gene abnormal patients were significantly higher than those without such abnormalities (P ＜0.05).Patients with bone marrow plasma cells of lq21 amplification were higher than those with normal karotypes(P ＜0.05),CRE was significantly higher among lq21 amplification and p53 deletion patients (P ＜0.05),CRP was significantly higher among p53 deletion patients (P ＜0.05).No significant difference was oberserved in relationship of the chromosome aberration and age,the chromosome aberration and stage.ConclusionThe most common genetic abnormalities in MM is IGH rearrangement and absence of RB1 and D13S319,followed by lq21 amplification,the least is p53 deletion.FISH is a rapid and sensitive technique to refine chromosome aberrations in MM.The specific detection for genomic features of MM is proved to be correlative with its clinicopathologic characteristics and the prognosis.