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“原位”MYC重排和扩增作为11q异常的高级别B细胞淋巴瘤病例中的继发性改变。

"In situ" MYC rearrangement and amplification as a secondary change in a case of High-grade B cell lymphoma with 11q aberration.

作者信息

Di Stefano Gioia, Bens Susanne, Fischer Anja, Ciceri Manuel, Nassi Luca, Siebert Reiner, Santi Raffaella

机构信息

Histopathology and Molecular Diagnostics, Careggi University Hospital, Florence, Italy.

Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, Germany.

出版信息

Ann Hematol. 2025 Aug 7. doi: 10.1007/s00277-025-06433-8.

Abstract

High-grade B cell lymphoma with 11q aberration (HGBCL-11q) is an aggressive lymphoma with a germinal center (GC) B cells phenotype. It is characterized by a cytogenetic alteration on the long arm of chromosome 11, which includes proximal gains and telomeric losses. HGBCL-11q shares certain morpho-phenotypic and gene expression features with Burkitt lymphoma (BL) but lacks the typical IG::MYC translocation. The current classifications consider HGBCL-11q as MYC rearrangement negative lymphoma. In contrast, in BL the characteristic 11q aberration is recognized as a secondary event occurring during clonal evolution. An increasing number of aggressive GC B cell lymphomas exhibiting both the typical 11q aberration and MYC rearrangement at the initial diagnosis are reported mostly as HGBCL, NOS (not otherwise specified). However, there is limited data on the temporal relationship between MYC rearrangement and the 11q aberration in these instances. Here, we present a case of nodal HGBCL-11q that shows a focal area with elevated MYC protein expression and a copy number gain of a rearranged MYC locus. These findings suggest that MYC rearrangement can occur as a secondary event in HGBCL-11q.

摘要

伴有11q异常的高级别B细胞淋巴瘤(HGBCL-11q)是一种具有生发中心(GC)B细胞表型的侵袭性淋巴瘤。其特征是11号染色体长臂上的细胞遗传学改变,包括近端增益和端粒丢失。HGBCL-11q与伯基特淋巴瘤(BL)具有某些形态表型和基因表达特征,但缺乏典型的IG::MYC易位。目前的分类将HGBCL-11q视为MYC重排阴性淋巴瘤。相比之下,在BL中,特征性的11q异常被认为是克隆进化过程中发生的继发事件。越来越多的侵袭性GC B细胞淋巴瘤在初诊时同时表现出典型的11q异常和MYC重排,大多被报告为HGBCL,NOS(未另行说明)。然而,在这些情况下,关于MYC重排与11q异常之间的时间关系的数据有限。在此,我们报告一例结内HGBCL-11q病例,该病例显示一个局灶区域MYC蛋白表达升高,且重排的MYC基因座拷贝数增加。这些发现表明,MYC重排在HGBCL-11q中可能作为继发事件发生。

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