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目的分析Richter’s综合征中B-CLL/DLBCL两种肿瘤IGVH基因克隆重排及突变状态,分析其克隆相关性,初步探讨可能涉及的分子机制。方法用PCR及基因扫描(GeneScan)分析IGVH基因的克隆性重排;用克隆测序检测和分析两种肿瘤的克隆相关性及IGVH基因的突变状态;用免疫组化染色的方法检测两种肿瘤中ZAP70和p53的表达。结果(1)基因扫描发现该例Richter’s综合征中B-CLL和DLBCL两种肿瘤的IGVH基因均为单克隆重排且重排片段长度一致;(2)克隆测序证实两种肿瘤携带相同的未突变IGVH3-74基因;(3)该例Richter’s转化的DLBCL不表达CD5和CD23;ZAP70,p53和Kappa在B-CLL及DLBCL均阳性。结论该例Richter’s转化的DLBCL由克隆相关的携带未突变型IGVH基因的B-CLL患者转化而来,p53可能在转化过程起一定作用。
Objective To analyze the clonal rearrangement and mutation status of IGVH gene in B-CLL / DLBCL tumors in Richter’s syndrome and to analyze their clonal correlation and to explore the possible molecular mechanisms. Methods The clonal rearrangements of IGVH gene were analyzed by PCR and GeneScan. The clonal correlation of the two tumors and the mutation status of IGVH gene were detected and analyzed by cloning and sequencing. The expression of IGVH gene was detected by immunohistochemical staining in both tumors ZAP70 and p53 expression. Results (1) The IGVH genes of both B-CLL and DLBCL tumors in this case of Richter’s syndrome were found to be monoclonal rearrangement and rearranged in length in the Richter’s syndrome. (2) Clone sequencing confirmed that both tumors carried the same Mutation of IGVH3-74 gene; (3) In this case, Richter’s transformed DLBCL does not express CD5 and CD23; ZAP70, p53 and Kappa are positive in both B-CLL and DLBCL. CONCLUSIONS: This case of Richter’s transformed DLBCL was transformed by cloning of a B-CLL patient carrying the unmutated IGVH gene and p53 may play a role in the transformation.