荧光原位杂交技术检测多发性骨髓瘤染色体异常

Detection of chromosomal aberrations in multiple myeloma with fluorescence in situ hybridization

目的:探讨荧光原位杂交(FISH)技术检测多发性骨髓瘤患者染色体异常的临床价值。方法:运用FISH技术,采用5种特异性DNA探针检测20例多发性骨髓瘤(MM)患者染色体异常,并与常规细胞遗传学分析结果比较。结果:FISH显示20例MM患者中18例出现染色体异常,总异常检出率为90%,其中14q32易位65%(13/20),del(13q14)阳性率为55%(11/20),1q21异常25%(5/20),p53阳性率15%(3/20)。常规染色体分析异常检出率仅为15%(3/20)。结论:del(13q14)和14q32易位是MM患者最常见的染色体异常。FISH比传统的染色体检查更敏感可靠,并可作为MM预后评估的一项指标。

Objective： To detect of chromosomal abnormalities in multiple myeloma （MM） patients with fluorescence in situ hybridization （FISH）. Methods： FISH was performed in 20 MM patients using 5 specific DNA probes. The difference in chromosomal abnormalities was compared by FISH and other routine cytogenetic tests. Results- Eighteen of the 20 patients showed chromosomal abnormalities （90%）. The positive rates oft（14q32）, del（13q14）, dup（lq21）, and p53 gene were 65% （13 in 20）, 55% （11 in 20）, 25% （5 in 20）, and 15%（3 in 20）, respectively. The abnormal rate of the conventional chromosome examination was 15% only. Conclusion： FISH is more sensitive than traditional chromosomal tests and can be used as an index in prognostic evaluation for MM. Del（13q14） and t（14q32） are the most common chromosomal abnormalities in MM patients.