淋巴瘤比较基因组杂交研究

APPLICATION OF COMPARATIVE GENOMIC HYBRIDIZATION IN LYMPHOMA

目的评价比较基因组杂交(CGH)技术在淋巴瘤研究中的应用价值。方法采用CGH技术检测20例淋巴瘤患者核型异常,部分病例与核型分析比较。结果20例淋巴瘤患者CGH核型异常检出率为60%。8例进行常规核型分析的患者,CGH检测出4例常规核型分析未发现的异常。8例弥漫大B细胞淋巴瘤5例发现染色体拷贝数改变,其中3例发现13号染色体长臂扩增。5例滤泡性淋巴瘤中3例分别检测出7q11-21和15q11-14扩增和18号三体。4例小淋巴细胞淋巴瘤中1例6q16-25缺失,1例发现复杂核型异常:1p21-23扩增伴有2p12-ter,9p13-ter,10p13-ter缺失。结论淋巴瘤患者存在多种染色体异常,CGH是一有用的分析淋巴瘤核型异常的分子细胞遗传学工具。

Objective To evaluate the effect of comparative genomic hybridization （CGH） in lymphoma. Methods Genomic abnormalities in 20 lymphoma patients were assayed by CGH and some cases were compared with those of conventional karyotype analysis. Results The frequency of aberration by CGH was 60% （12/20）. No genetic alteration was found in 8 cases with conventional karyotyping, but 4 of the cases were identified to have genomic abnormalities by CGH. The aberration was detected in 62.5 % （5/8） diffuse large B-cell lymphoma, in which the most common recurrent chromosomal alterations involved the gain of 13. Gains of 7q11-21, 15q11-14 and trisomy 18 were detected in 3/5 follicular lymphoma. The loss of 6q16-25 was found in 1/4 chronic lymphocytic leukemia/small lymphocytic lymphoma and one showed complex karyotypic abnormalities： gain of 1p21-23 in combination with loss of 2p12-ter, 9p13-ter, 10p13-ter. Conclusion Many types of chromosomal abnormalities were detected in lymphoma. CGH is a useful molecular cytogenetic tool in lymphoma karyotype analysis.