Yuregir Ozge Ozalp, Sahin Feride Iffet, Yilmaz Zerrin, Kizilkilic Ebru, Karakus Sema, Ozdogu Hakan
Department of Medical Genetics, Baskent University Faculty of Medicine, Kubilay Sokak No. 36, Maltepe, Ankara, Turkey.
Hematology. 2009 Apr;14(2):90-4. doi: 10.1179/102453309X385250.
Conventional cytogenetic analysis and fluorescence in situ hybridization (FISH) results of bone marrow samples of 36 multiple myeloma (MM) patients at the time of diagnosis have been evaluated. Three probes for chromosome 13q (RB1, D13S319, D13S25), one for 14q32 (IgH) and one for 17p13 (p53) have been used for hybridization with fixed cells. Twenty patients (55.5%) had normal karyotypes, whereas eight (22.2%) had numerical or structural chromosomal abnormalities. We did not find metaphases for chromosome analysis in eight (22.2%) patients. Fluorescence in situ hybridization analyses revealed at least one or more abnormal results in 25 (69.5%) cases, whereas 11(30.5%) cases had no abnormal findings. 14q32 rearrangement was the most common finding in FISH analyses and has been detected in 21 cases (58.3%). 13q deletion and 17p deletion have been detected in 11 (30.5%) and 5 (13.9%) cases, respectively. Fluorescence in situ hybridization studies including 14q32 and 17p13 chromosome regions may yield quite significant results during clinical follow-up of MM.
对36例多发性骨髓瘤(MM)患者诊断时的骨髓样本进行了常规细胞遗传学分析和荧光原位杂交(FISH)检测。使用了3种针对13号染色体q臂(RB1、D13S319、D13S25)的探针、1种针对14号染色体q32区域(IgH)的探针和1种针对17号染色体p13区域(p53)的探针与固定细胞进行杂交。20例患者(55.5%)核型正常,而8例(22.2%)存在染色体数目或结构异常。8例(22.2%)患者未找到用于染色体分析的中期分裂相。荧光原位杂交分析显示,25例(69.5%)至少有一项或多项异常结果,而11例(30.5%)未发现异常。14q32重排在FISH分析中最为常见,共检测到21例(58.3%)。13q缺失和17p缺失分别在11例(30.5%)和5例(13.9%)中检测到。在MM的临床随访中,包括14q32和17p13染色体区域的荧光原位杂交研究可能会得出相当有意义的结果。