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日本患者中伴有14;18易位的B细胞淋巴瘤的细胞遗传学、分子生物学及临床研究

Cytogenetic, molecular biological and clinical study of B-cell lymphomas with 14;18 translocation in Japanese patients.

作者信息

Takechi M, Tanaka K, Hashimoto T, Asaoku H, Dohy H, Kikuchi M, Kamada N

机构信息

Department of Hematology, Research Institute for Nuclear Medicine and Biology, Hiroshima University, Japan.

出版信息

Leukemia. 1991 Dec;5(12):1069-75.

PMID:1774956
Abstract

To investigate the role of the BCL-2 gene in Japanese patients with B-cell non-Hodgkin's lymphoma, karyotypic analysis, DNA analysis and clinical characterization were studied. Ten of 73 patients showed t(14;18) and two patients had variant translocations [t(2;18) and t(18;22), respectively]. Of 42 patients examined at the molecular level, eight patients showed the BCL-2 gene rearrangement detected by mbr probe and two patients by 5'BCL-2 probe. Of the eight patients with the BCL-2 gene rearrangement by the mbr probe, t(14;18) was detected in six patients. A discrepancy in the relationship between the occurrence of t(14;18) and BCL-2 gene rearrangement was recognized. Two patients with obvious t(14;18) showed no rearrangement of the BCL-2 gene by mbr, mcr, nor 5' probe. Cytogenetic analysis is an indispensable tool for investigating lymphomogenesis. The two patients with the variant translocations, t(2;18) and t(18;22), showed breakpoints at the 5' site of the BCL-2 gene and both were histologically of the small lymphocytic type. No examples with the co-existence of both the BCL-2 and c-MYC gene rearrangements were found. The median survival time of the patients with the BCL-2 rearrangement and/or t(14;18) was longer than the patients without the BCL-2 gene rearrangement and translocation and also patients with the c-MYC gene rearrangement and/or translocation. Racial and geographical heterogeneities, variant translocations of t(14;18) and the clinical characteristics of B-cell non-Hodgkin's lymphoma with t(14;18) are discussed.

摘要

为研究BCL-2基因在日本B细胞非霍奇金淋巴瘤患者中的作用,我们进行了核型分析、DNA分析及临床特征研究。73例患者中有10例显示t(14;18),2例患者有变异易位[t(2;18)和t(18;22)]。在42例进行分子水平检测的患者中,8例患者经mbr探针检测到BCL-2基因重排,2例患者经5'BCL-2探针检测到重排。在8例经mbr探针检测到BCL-2基因重排的患者中,6例检测到t(14;18)。我们发现t(14;18)的发生与BCL-2基因重排之间的关系存在差异。2例有明显t(14;18)的患者经mbr、mcr及5'探针检测均未显示BCL-2基因重排。细胞遗传学分析是研究淋巴瘤发生机制不可或缺的工具。2例有变异易位t(2;18)和t(18;22)的患者在BCL-2基因的5'位点出现断点,二者组织学类型均为小淋巴细胞型。未发现BCL-2和c-MYC基因重排同时存在的病例。有BCL-2重排和/或t(14;18)的患者的中位生存时间长于无BCL-2基因重排和易位的患者,也长于有c-MYC基因重排和/或易位的患者。本文讨论了种族和地理异质性、t(14;18)的变异易位以及伴有t(14;18)的B细胞非霍奇金淋巴瘤的临床特征。

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