ALK 阳性具有复杂核型的间变大细胞淋巴瘤和新型 ALK 基因重排。

Anaplastic lymphoma kinase-positive large B-cell lymphoma with complex karyotype and novel ALK gene rearrangements.

机构信息

Department of Pathology and Department of Hospital Laboratories, UMass Memorial Medical Center and University of Massachusetts Medical School, Worcester, MA 01605, USA.

出版信息

Hum Pathol. 2011 Oct;42(10):1562-7. doi: 10.1016/j.humpath.2011.01.012. Epub 2011 Apr 15.

DOI:10.1016/j.humpath.2011.01.012

PMID:21497367

Abstract

Anaplastic lymphoma kinase-positive large B-cell lymphoma is a rare non-Hodgkin lymphoma that exhibits a characteristic immunoblastic/plasmablastic morphology and is frequently associated with t(2;17)(p23;q23) and expression of Clathrin-anaplastic lymphoma kinase fusion protein. Here, we report a refractory anaplastic lymphoma kinase-positive large B-cell lymphoma in a 49-year-old human immunodeficiency virus-positive man. The neoplastic cells expressed CD138, epithelial membrane antigen, CD45, and perforin, and showed a strong granular cytoplasmic anaplastic lymphoma kinase staining pattern. Conventional chromosome analysis revealed a clone with multiple anomalies and a chromosome count of 76 to 79. Fluorescence in situ hybridization studies showed 5 copies of the ALK gene with 2 intact signals and 3 signals resulting from 2 independent, previously unreported, rearrangements. One rearrangement, seen in 2 copies, involved translocation of ALK sequences to chromosome Xq21. The second rearrangement involved translocation of ALK sequences to chromosome 12q24.1. This case broadens the cytogenetic alterations in anaplastic lymphoma kinase-positive large B-cell lymphoma, and it also demonstrates the high genetic instability of this tumor.

摘要

间变大细胞淋巴瘤阳性的大 B 细胞淋巴瘤是一种罕见的非霍奇金淋巴瘤，具有特征性的免疫母细胞/浆母细胞形态，常与 t(2;17)(p23;q23)和 Clathrin-间变大细胞淋巴瘤激酶融合蛋白表达相关。在此，我们报道了一例 49 岁人类免疫缺陷病毒阳性的难治性间变大细胞淋巴瘤阳性的大 B 细胞淋巴瘤。肿瘤细胞表达 CD138、上皮膜抗原、CD45 和穿孔素，并显示出强烈的颗粒状细胞质间变大细胞淋巴瘤激酶染色模式。常规染色体分析显示存在一个具有多种异常的克隆，染色体数为 76 到 79。荧光原位杂交研究显示 ALK 基因有 5 个拷贝，有 2 个完整信号和 3 个信号来自 2 个独立的、以前未报道的重排。一个重排在 2 个拷贝中，涉及 ALK 序列转移到染色体 Xq21。第二个重排涉及 ALK 序列转移到染色体 12q24.1。该病例拓宽了间变大细胞淋巴瘤阳性的大 B 细胞淋巴瘤的细胞遗传学改变，也证明了该肿瘤具有很高的遗传不稳定性。