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伯基特淋巴瘤中BCL-6基因的点突变

Point mutations of the BCL-6 gene in Burkitt's lymphoma.

作者信息

Capello D, Carbone A, Pastore C, Gloghini A, Saglio G, Gaidano G

机构信息

Department of Medical Sciences, University of Torino at Novara, Italy.

出版信息

Br J Haematol. 1997 Oct;99(1):168-70. doi: 10.1046/j.1365-2141.1997.3573171.x.

Abstract

BCL-6 codes for a transcription factor implicated in chromosomal translocations of diffuse large cell lymphomas. Recent evidence indicates that BCL-6 may also be altered by mutations of its 5' non-coding regions. In this study we have investigated the distribution of BCL-6 5' mutations among 35 Burkitt's lymphoma cases representative of the epidemiologic variants of the disease. Mutations were detected in 6/21 (28.6%) sporadic Burkitt's lymphomas and 7/14 (50%) endemic Burkitt's lymphomas. These data expand the spectrum of B-cell non-Hodgkin's lymphomas associated with BCL-6 5' mutations and have implications for the pathogenesis, histogenesis and clinical monitoring of Burkitt's lymphoma.

摘要

BCL-6编码一种与弥漫性大细胞淋巴瘤染色体易位有关的转录因子。最近的证据表明,BCL-6也可能因其5'非编码区的突变而发生改变。在本研究中,我们调查了35例代表该疾病流行病学变异型的伯基特淋巴瘤病例中BCL-6 5'突变的分布情况。在6/21(28.6%)散发型伯基特淋巴瘤和7/14(50%)地方性伯基特淋巴瘤中检测到突变。这些数据扩展了与BCL-6 5'突变相关的B细胞非霍奇金淋巴瘤的范围,并对伯基特淋巴瘤的发病机制、组织发生和临床监测具有重要意义。

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