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Primary Mediastinal Large B-Cell Lymphoma With Translocations Involving BCL6 and MYC (Double-Hit Lymphoma).

具有BCL6和MYC基因易位的纵隔原发大B细胞淋巴瘤(双重打击淋巴瘤)

Campuzano-Zuluaga G,Ortiz D,Peng JH,Francis Ikpatt O,Fan YS,Barredo JC,Vega F,Chapman JR

Abstract

Primary mediastinal large B-cell lymphomas (PMLBCLs) are aggressive lymphomas with characteristic clinical, morphologic, and immunophenotypic features. "Double-hit" (DH) lymphomas are B-cell neoplasms characterized by a translocation involving MYC and either BCL2 or BCL6 In the indexed literature, there are no reported cases of PMLBCL associated with DH or triple-hit events.
Herein, we present a case of a 15-year-old girl with PMLBCL who had typical clinical, morphologic, and immunophenotypic features.
Fluorescent in situ hybridization studies showed rearrangements involving MYC and BCL6 We also excluded the possibility of a reciprocal t(3;8) (3q27;8q24) BCL6/MYC translocation.
This case expands the current spectrum of lymphomas subtypes in which DH can be found and supports the rationale for cytogenetic testing for DH abnormalities in all cases of aggressive large B-cell lymphomas regardless of subtype.

摘要

纵隔原发大B细胞淋巴瘤(PMLBCLs)是一组具有特征性临床表现、形态学和免疫表型的侵袭性淋巴瘤。文献中双重打击(DH)淋巴瘤是特指涉及MYC基因和BCL2或BCL6基因易位的B细胞淋巴瘤,具有双重或三重打击的PMLBCL尚未见文献报道。

在此我们报道一例发生于15岁女孩、具有典型临床表现、形态学和免疫表型的PMLBCL。

FISH结果表明MYC和BCL6基因重排阳性,同时我们排除了t(3;8) (3q27;8q24) BCL6/MYC间易位的可能。

此病例扩展了当前具有DH的淋巴瘤亚型谱,并且发现和支持不管哪种侵袭性大B细胞淋巴瘤,通过细胞遗传学检测均有可能发现DH异常。

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