在一名患有伯基特淋巴瘤/白血病和共济失调-毛细血管扩张症的儿童中，一种细微的t(3;8)导致了MYC和BCL6的似是而非的并置。

A subtle t(3;8) results in plausible juxtaposition of MYC and BCL6 in a child with Burkitt lymphoma/leukemia and ataxia-telangiectasia.

作者信息

Sandlund John T, Kastan Michael B, Kennedy Wren, Behm Frederick, Entrekin Elaine, Pui Ching-Hon, Kalwinsky David T, Raimondi Susana C

机构信息

Department of Hematology/Oncology, St. Jude Children's Research Hospital, 332 North Lauderdale Street, Memphis, TN 38105, USA.

出版信息

Cancer Genet Cytogenet. 2006 Jul 1;168(1):69-72. doi: 10.1016/j.cancergencyto.2005.12.013.

DOI:10.1016/j.cancergencyto.2005.12.013

PMID:16772123

Abstract

Translocations involving 3q27 that affect the BCL6 gene are common and specific chromosomal abnormalities in B-cell precursor non-Hodgkin lymphoma (mainly diffuse large-cell and follicular lymphoma), but they have not been reported in Burkitt lymphoma. Here, we describe a case in which a BCL6 rearrangement and additional complex cytogenetic abnormalities occurred in a child with Burkitt lymphoma/leukemia and ataxia-telangiectasia. Although cytogenetic analysis of the bone marrow revealed clonal abnormalities of chromosome arms 8q and 14p and other subclonal abnormalities, the t(8;14) or its variants typically associated with Burkitt lymphoma were not observed. Fluorescence in situ hybridization with locus-specific probes and multicolor spectral karyotyping demonstrated a complex pattern of chromosomal rearrangements leading to a subtle t(3;8)(q27;q24.1) that rearranged BCL6 and placed it adjacent to MYC. We speculate that this genetic lesion occurred as a result of chromosomal instability due to the underlying disease.

摘要

涉及3q27且影响BCL6基因的易位是B细胞前体非霍奇金淋巴瘤（主要是弥漫性大细胞淋巴瘤和滤泡性淋巴瘤）中常见且特异的染色体异常，但在伯基特淋巴瘤中尚未见报道。在此，我们描述了1例患有伯基特淋巴瘤/白血病和共济失调毛细血管扩张症的儿童发生BCL6重排及其他复杂细胞遗传学异常的病例。尽管对骨髓进行的细胞遗传学分析显示8号染色体长臂和14号染色体短臂存在克隆性异常以及其他亚克隆性异常，但未观察到通常与伯基特淋巴瘤相关的t(8;14)或其变异型。使用位点特异性探针的荧光原位杂交和多色光谱核型分析显示了导致细微t(3;8)(q27;q24.1)的复杂染色体重排模式，该重排使BCL6重排并使其与MYC相邻。我们推测这种基因损伤是由于潜在疾病导致的染色体不稳定所致。