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在相当一部分原发性皮肤滤泡中心淋巴瘤中存在t(14;18)(IGH;BCL2)的分子细胞遗传学证据。

Molecular cytogenetic evidence of t(14;18)(IGH;BCL2) in a substantial proportion of primary cutaneous follicle center lymphomas.

作者信息

Streubel Berthold, Scheucher Brigitte, Valencak Julia, Huber Daniela, Petzelbauer Peter, Trautinger Franz, Weihsengruber Felix, Mannhalter Christine, Cerroni Lorenzo, Chott Andreas

机构信息

Department of Pathology, Medical University of Vienna, Vienna General Hospital, Vienna, Austria.

出版信息

Am J Surg Pathol. 2006 Apr;30(4):529-36. doi: 10.1097/00000478-200604000-00015.

Abstract

In contrast to nodal follicular lymphoma, limited data exist on genetic changes in primary cutaneous follicular lymphoma (primary cutaneous follicle center lymphoma according to WHO-EORTC). The detection rate of the BCL2 rearrangement, representing the characteristic t(14;18)(q32;q21) underlying follicular lymphoma, by polymerase chain reaction (PCR) has been reported to vary over a wide range (0%-41%), and only a few cases have been studied by molecular cytogenetic techniques such as fluorescence in situ hybridization (FISH). In this study, 27 primary cutaneous follicle center lymphomas were analyzed by FISH and the results compared with those obtained by PCR. FISH demonstrated translocations affecting the immunoglobulin heavy chain locus (IGH) in 14 of 27 cases (52%): a t(14;18)(q32;q21) involving BCL2 was found in 11 cases (41%), a t(3;14)(q27;q32) affecting BCL6 in 2 cases (7%), and in 1 case the partner gene of IGH could not be identified. Interestingly, PCR did not detect BCL2 rearrangement in any case. These data suggest that the t(14;18)(q32;q21) frequently occurs in primary cutaneous follicular lymphoma. The reason(s) why BCL2 rearrangements escape the detection by PCR is (are) not clear but could be due to BCL2 mutations, breakpoints outside the amplified DNA, or a high load of somatic mutations.

摘要

与淋巴结滤泡性淋巴瘤不同,关于原发性皮肤滤泡性淋巴瘤(根据世界卫生组织-欧洲肿瘤研究与治疗组织分类为原发性皮肤滤泡中心淋巴瘤)的基因变化的数据有限。据报道,通过聚合酶链反应(PCR)检测代表滤泡性淋巴瘤特征性t(14;18)(q32;q21)的BCL2重排的检出率在很宽的范围内变化(0%-41%),并且只有少数病例通过荧光原位杂交(FISH)等分子细胞遗传学技术进行了研究。在本研究中,对27例原发性皮肤滤泡中心淋巴瘤进行了FISH分析,并将结果与PCR结果进行了比较。FISH显示27例中有14例(52%)存在影响免疫球蛋白重链基因座(IGH)的易位:11例(41%)发现涉及BCL2的t(14;18)(q32;q21),2例(7%)发现影响BCL6的t(3;14)(q27;q32),1例中IGH的伙伴基因无法鉴定。有趣的是,PCR在任何病例中均未检测到BCL2重排。这些数据表明t(14;18)(q32;q21)在原发性皮肤滤泡性淋巴瘤中频繁发生。BCL2重排逃避PCR检测的原因尚不清楚,但可能是由于BCL2突变、扩增DNA外的断点或体细胞突变的高负荷。

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