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目的:探讨伴骨髓侵犯(bone marrow involvement,BMI)弥漫大B细胞淋巴瘤(diffuse large B-celllymphoma,DLBCL)患者的细胞遗传学特征。方法:采用常规细胞遗传学(conventional cytogenetic,CC)分析55例伴BMI的DLBCL患者染色体核型;采用荧光原位杂交技术(fluorescence in situ hybridization,FISH)检测其中18例患者IgH、Rb-1、D13S25、p53、ATM、Bcl-2、Bcl-6、c-MYC基因位点;分析其细胞遗传学特征。结果:55例患者中CC检测34例(61.8%)具有染色体核型异常(CA),21例(38.2%)为复杂畸变,14例(25.5%)高度复杂畸变。FISH检测示8例(44.4%)伴Bcl-2扩增,2例(11.1%)伴Bcl-2易位,7例(38.9%)伴IGH易位,5例(27.8%)伴Bcl-6扩增,5例(27.8%)伴p53缺失,3例(16.7%)伴D13S25缺失,2例(11.1%)伴Rb-1缺失及4例(22.2%)伴c-MYC扩增。3例CC正常患者经FISH检测出异常。随着骨髓侵犯程度的增加,遗传学异常检出率增加。结论:伴BMI的DLBCL患者CA检出率高,各条染色体均有累及,且复杂畸变核型异常多见;检测细胞遗传学异常,FISH较CC灵敏性及特异性高;骨髓侵犯程度较轻患者的细胞遗传学异常易于漏诊。
Objective: To investigate the cytogenetic characteristics of patients with diffuse large B-cell lymphoma (BBCL) with bone marrow involvement (BMI). Methods: The karyotypes of 55 DLBCL patients with BMI were analyzed by conventional cytogenetic analysis (CC). The levels of IgH, Rb-1, D13S25, p53, ATM, Bcl-2, Bcl-6, c-MYC gene loci; Results: Of the 55 patients, 34 cases (61.8%) had chromosomal karyotype (CA), 21 cases (38.2%) had complex aberrations and 14 cases (25.5%) had highly complex aberrations. FISH detected 8 cases (44.4%) with Bcl-2 amplification, 2 cases (11.1%) with Bcl-2 translocation, 7 cases (38.9%) with IGH translocation and 5 cases (27.8% There were 5 cases (27.8%) with p53 deletion, 3 cases (16.7%) with D13S25 deletion, 2 cases (11.1%) with Rb-1 deletion and 4 cases (22.2%) with c-MYC amplification. 3 cases of CC normal patients detected by FISH abnormalities. With the increase of bone marrow invasion, the detection rate of genetic abnormality increases. Conclusion: The detection rate of CA in DLBCL patients with BMI is high, and all chromosomes are involved, and abnormal karyotypes of complex aberrations are more common. Cytogenetic abnormalities are detected, FISH is more sensitive and specific than CC, and the extent of bone marrow invasion is mild Patients with cytogenetic abnormalities easily missed.