用比较基因组杂交技术研究弥漫大B细胞淋巴瘤分子细胞遗传学异常及其意义(英文)

The molecular cytogenetic aberration analyzed by comparative genomic hybridization and its significance in diffuse large B-cell lymphoma

目的研究弥漫大B细胞淋巴瘤（diffuse large B-cell lymphoma，DLBCL）的分子细胞遗传学异常，探讨DLBCL的分子细胞遗传学异常与临床特征的相关性。方法采用比较基因组杂交（comparative genomic hybridization，CGH）技术对24例DLBCL患者的全基因组遗传物质的扩增／缺失进行检测，分析CGH检测结果与DLBCL的临床特征及生存期的相关性。结果24例DLBCL中62．5％病例发生染色体水平的扩增／缺失，20．8％病例发生累及6q的缺失，16．7％病例发生累及18q扩增；CGH检测异常组与正常组比较：CGH异常组患者Annarbor分期多为Ⅱ-Ⅳ期，出现全身症状的几率较高，治疗疗效较差，生存期较短，但两组结果外累及发生几率无明显差别。结论基因组水平发生的遗传物质扩增／缺失是DLBCL常见的分子细胞遗传学异常；6q15-21缺失和18q11-ter扩增是DLBCL非随机分子细胞遗传学异常；CGH检测异常是DLBCL不良临床过程和预后标志。

Objective To identify genetic alterations in diffuse large B-cell lymphoma （DLBCL） and to analyse the relationship between the genetic aberrations and the clinical characteristics. Methods Using comparative genomic hybridization （CGH） to investigate the genomic changes in 24 cases of DLBCL and to analyse the relationship between these aberrations and clinical parameters including Ann arbor stage, systemic symptoms, chemotherapy efficacy and survival. Results Aberrations were detected in 62.5 % patients of 24 cases; the most common chromosomal alterations in- cluded loss of 6q15-21 as well as gain of 18q11-ter, of which the incidences were 20.8% and 16.7%, respectively;with comparing clinical parameters between patients with normal CGH and abnormal CGH, we found that patients with abnormal CGH suffered more from stage Ill-IV and had higher incidence of systemic symptoms, poor chemotherapy efficacy and poor survival （ P 〈 0.05）, but there was no difference observed in the incidence of extranodal involvement between two groups. Conclusion The gains and/or losses of genomic DNA from DLBCL patients are the commom molecular cytogenetic aberrations; loss of 6q15-21 and gain of 18q11-ter are nonrandom event to DLBCL patients; abnormal CGH is a clinical parameter reflecting malignant progressive course and poor survival to DLBCL patients.