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伴有MYC基因重排或扩增的双打击套细胞淋巴瘤:4例报告并文献复习

Double-hit mantle cell lymphoma with MYC gene rearrangement or amplification: a report of four cases and review of the literature.

作者信息

Setoodeh Reza, Schwartz Stuart, Papenhausen Peter, Zhang Ling, Sagatys Elizabeth M, Moscinski Lynn C, Shao Haipeng

机构信息

Department of Hematopathology, Moffitt Cancer Center and Research Institute Tampa, FL, USA.

出版信息

Int J Clin Exp Pathol. 2013;6(2):155-67. Epub 2013 Jan 15.

Abstract

Mature B-cell lymphomas with both BCL2 and MYC translocations are known as "double hit" lymphomas. These lymphomas are aggressive and show high proliferation rate due to the growth advantages provided by MYC and BCL2 translocation and overexpression. Mantle cell lymphoma (MCL) is a neoplasm of mature B-lymphocytes with characteristic t(11;14) and subsequent Cyclin D1 overexpression. Secondary cytogenetic changes are frequent in MCL, but MYC translocation has only been rarely reported. In this study, we report four cases of MCL with MYC translocation or MYC gene amplification detected by conventional cytogenetics, fluorescence in situ hybridization and whole genome single nucleotide polymorphism (SNP) array, and determined the clinicopathologic features. Our study provides further evidence supporting the concept of "double hit" MCL with co-involvement of MYC gene rearrangement and/or amplification and CCND1 gene rearrangement.

摘要

同时具有BCL2和MYC易位的成熟B细胞淋巴瘤被称为“双打击”淋巴瘤。这些淋巴瘤具有侵袭性,由于MYC和BCL2易位及过表达所带来的生长优势,其增殖率很高。套细胞淋巴瘤(MCL)是一种具有特征性t(11;14)及随后细胞周期蛋白D1过表达的成熟B淋巴细胞肿瘤。继发性细胞遗传学改变在MCL中很常见,但MYC易位仅鲜有报道。在本研究中,我们报告了4例通过传统细胞遗传学、荧光原位杂交和全基因组单核苷酸多态性(SNP)阵列检测到MYC易位或MYC基因扩增的MCL病例,并确定了其临床病理特征。我们的研究提供了进一步的证据,支持“双打击”MCL这一概念,即MYC基因重排和/或扩增与CCND1基因重排共同参与。

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