一例伴有低亚二倍体异常的多发性骨髓瘤的临床和实验研究

Clinical and experimental study of a multiple myeloma case with low hypodiploidy

目的报告1例伴有低亚二倍体复杂异常的多发性骨髓瘤病例并探讨其临床和实验室特点。方法采用骨髓细胞短期培养法制备染色体，用R显带技术进行核型分析。用13q14、p53、Rb1、1q21一系列单色探针和IgH／CCND1双色双融合探针对其进行荧光原位杂交检测。用流式细胞仪检测DNA含量。结果R显带核型分析提示该患者5个细胞为包含35条染色体的低亚二倍体核型，3个细胞为低亚二倍体克隆的复制，另外4个细胞为正常核型。间期荧光原位杂交证实核型中存在1号、13号、14号、17号染色体单体，且显示mar1来源于11号染色体并造成CCND1基因的扩增。流式细胞仪检测DNA含量显示其有低亚二倍体克隆峰，DNA指数为0．8426。结论低亚二倍体核型在多发性骨髓瘤中发生率极低，荧光原位杂交技术是检测多发性骨髓瘤分子异常的可靠手段。

Objective To report the clinical and laboratory characterization of a case of multiple myeloma with low hypodiploid complex karyotyptic abnormalities. Methods Cytogenetic examination of bone marrow performed by 24 h culture method. R-banding technique was used to analyze the karyotype. Interphase fluorescence in situ hybridization （FISH） was performed using chromosome probes such as 13q14,p53, Rbl, lq21 and IgH/CCND1. The DNA content was detected by flow cytometry. Results Chromosome analysis revealed complex chromosomal rearrangement. Five cells had a low hypodiploid karyotype with chromosomal number 35. Three ceils had the duplication of the low hypodiploid karyotype. Four cells had normal karyotype. Monosomy 1, 13,14 , 17 and the mark chromosome 1 derivated from chromosome 11 resulting in the amplication of CCND1 gene were confirmed by interphase FISH. Flow cytometric analysis displayed a low hypodiploid peak with the DNA index of 0. 8426. Conclusion These results indicated that the low hypodiploidy is a rare abnormality in multiple myeloma. Interphase FISH is a reliable method for detecting molecular abnormalities in multiple myeloma.