B细胞非霍奇金淋巴瘤bcl-2/JH融合基因的检测及临床意义

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目的:研究B细胞非霍奇金淋巴瘤(B-NHL)bcl-2/JH重排发生情况及其临床意义。方法:采用DNA多聚酶链反应(PCR)扩增23例B-NHL患者新鲜肿瘤组织、骨髓和外周血标本中bcl-2重排的主要和次要断裂点(MBR、mcr)。结果:易位断裂点分别在10例新鲜肿瘤组织(其中7例滤泡型中有5例,占71.4%;16例弥漫型中有5例,占31.3%)、8例骨髓和7例外周血标本中被测到,绝大部分断裂点发生在MBR,仅1例位于mcr。同时还发现18例骨髓形态学检查正常的患者中,有4例PCR阳性,其中包括2例临床Ⅰ、Ⅱ期患者,提示其骨髓已有肿瘤细胞存在。从治疗后观察得知,治疗前骨髓PCR阴性患者比阳性患者更易达到缓解。结论:bcl-2/JH融合基因的检测对淋巴瘤的诊断与分期、治疗方案的选择、疗效观察及微量残留病的监测均有重要意义。 Objective: To investigate the occurrence and clinical significance of bcl-2/JH rearrangement in B-NHL. METHODS: The major and minor breakpoints (MBR, mcr) of bcl-2 rearrangements in fresh tumor tissues, bone marrow, and peripheral blood samples of 23 patients with B-NHL were amplified by DNA polymerase chain reaction (PCR). RESULTS: The translocation breakpoints were in 10 cases of fresh tumor tissues (5 of 7 follicular types, accounting for 71.4%; 5 of 16 diffuse types, accounting for 31.3%), 8 bone marrow samples. And in 7 cases of weekly blood samples, most of the breakpoints occurred in the MBR, and only 1 case was in mcr. At the same time, it was also found that of 18 patients with normal bone marrow morphological examination, 4 cases were positive by PCR, including 2 cases of stage I and II patients, suggesting that the bone marrow had tumor cells. Observed after treatment, patients with negative bone marrow PCR before treatment were more likely to achieve remission than positive patients. Conclusion: The detection of bcl-2/JH fusion gene has important significance in the diagnosis and staging of lymphoma, the choice of treatment plan, the observation of curative effect and the monitoring of minimal residual disease.
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