Yang Wen-Ping, Huang Hui, Gong Li-Ping, Wu Yan, Xu Hong-Yan, Zou Yin, Lü Bei-Bei, Zhong Hua-Sheng, Deng Qing-Qiang, Xiao Qiang, Zeng Song-Tao, Zhu Cai-di
Department of Pathology, Jiangxi Children's Hospital, Nanchang 330006, China.
Zhonghua Bing Li Xue Za Zhi. 2010 Dec;39(12):819-24.
To investigate the molecular genetic features and diagnostic aspects of sporadic Burkitt's lymphoma (BL) in children.
Tissue microarray was constructed to include 64 cases of pediatric BL and 6 cases of pediatric diffuse large B-cell lymphoma (DLBCL). Immunohistochemistry and fluorescence in-situ hybridization for c-myc, bcl-2, bcl-6, IgH, myc/IgH and bcl-2/IgH gene were performed. Cases of pediatric Burkitt's lymphomas were subclassified into three groups based on their cellular orgins: the germinal center (GC) group, the late-germinal center (late-GC) group and the post-germinal center (post-GC) group.
Among 64 Burkitt's lymphomas studied, expression of CD20, CD10, bcl-6, bcl-2 and MUM1 by immunohistochemistry were 100% (64 cases), 98.4% (63 cases), 96.9% (62 cases), 0 (0 cases) and 23.4% (15 cases), respectively. Various gene rearrangements were found involving the c-myc 93.1% (54/58 cases) and IgH 82.8% (48/58 cases). Detailed rearrangements are as follows: 46 cases (85.2%) myc/IgH gene translocation along with c-myc and IgH gene rearrangement; 4 cases (7.4%) c-myc gene rearrangement without IgH and myc/IgH abnormality; 4 cases (7.4%) without c-myc, IgH or myc/IgH gene rearrangement. No case showed bcl-2 gene abnormality (100%). Fifty nine cases showed normal bcl-6 gene status. One case had bcl-6 gene rearrangement and amplification with the pathologic and immunophenotypic characteristics of BL, leading to a revised pathological diagnosis of B-cell lymphoma, unclassifiable with features intermediate between diffuse large B-cell lymphoma and Burkitt's lymphoma (DLBCL/BL). Two cases showed c-myc gene rearrangement. Two cases showed bcl-6 gene amplification and 6 DLBCL cases had a normal status of bcl-2/IgH.
A majority of pediatric sporadic BL arise from the germinal center B cells, most of which have c-myc gene rearrangement. It is useful to distinguish BL and DLBCL by multiple genes detection.
探讨儿童散发性伯基特淋巴瘤(BL)的分子遗传学特征及诊断要点。
构建组织芯片,纳入64例儿童BL和6例儿童弥漫性大B细胞淋巴瘤(DLBCL)。对c-myc、bcl-2、bcl-6、IgH、myc/IgH和bcl-2/IgH基因进行免疫组织化学和荧光原位杂交检测。根据细胞起源将儿童伯基特淋巴瘤病例分为三组:生发中心(GC)组、晚期生发中心(late-GC)组和生发中心后(post-GC)组。
在研究的64例伯基特淋巴瘤中,免疫组织化学检测CD20、CD10、bcl-6、bcl-2和MUM1的表达分别为100%(64例)、98.4%(63例)、96.9%(62例)、0(0例)和23.4%(15例)。发现多种基因重排,涉及c-myc的占93.1%(54/58例),IgH的占82.8%(48/58例)。具体重排情况如下:46例(85.2%)myc/IgH基因易位伴c-myc和IgH基因重排;4例(7.4%)c-myc基因重排但无IgH和myc/IgH异常;4例(7.4%)无c-myc、IgH或myc/IgH基因重排。无病例显示bcl-2基因异常(100%)。59例bcl-6基因状态正常。1例bcl-6基因重排并扩增,具有BL的病理和免疫表型特征,导致病理诊断修订为B细胞淋巴瘤,无法分类,具有弥漫性大B细胞淋巴瘤和伯基特淋巴瘤之间的中间特征(DLBCL/BL)。2例显示c-myc基因重排。2例显示bcl-6基因扩增,6例DLBCL病例bcl-2/IgH状态正常。
大多数儿童散发性BL起源于生发中心B细胞,其中大多数有c-myc基因重排。通过多基因检测区分BL和DLBCL很有用。