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伴有11号染色体长臂获得/缺失及MYC基因扩增的移植后伯基特样淋巴瘤病例的遗传学进展

Genetic progression of post-transplant Burkitt-like lymphoma case with 11q-Gain/Loss and MYC amplification.

作者信息

Grygalewicz Beata, Woroniecka Renata, Rymkiewicz Grzegorz, Rygier Jolanta, Malawska Natalia, Blachnio Katarzyna, Bystydzienski Zbigniew, Borysiuk Anita, Nowakowska Beata, Pienkowska-Grela Barbara

机构信息

Cytogenetic Laboratory, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.

Cytogenetic Laboratory, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.

出版信息

Cancer Genet. 2020 Jul;245:1-5. doi: 10.1016/j.cancergen.2020.05.001. Epub 2020 May 18.

Abstract

"Burkitt-like lymphoma with 11q aberration" is a new provisional entity in the latest revision of lymphoma's World Health Organization classification described as carrying the specific 11q-gain/loss aberration and lacking MYC rearrangement. Morphologically, phenotypically and by gene and microRNA expression profiling these lymphomas resemble Burkitt lymphoma. The 11q-gain/loss was also found in post-transplant patients with molecular Burkitt lymphoma signature without MYC rearrangement. Recent reports describe aggressive lymphomas with coexistence of 11q-gain/loss and MYC rearrangement. In this report we describe post-transplant Burkitt-like lymphoma with 11q aberration and MYC amplification. Genetic studies were conducted at two time points: before therapy and during progression. In both cytogenetic examinations, peculiar 11q-gain/loss was detected. Percentage of cells carrying MYC amplification increased from 2% at initial diagnosis to 97% during progression. The MYC amplification can functionally correspond to MYC translocation and to MYC overexpression. The presence of MYC amplification seems to increase the aggressiveness of the reported disease course, so even a small clone with this change should be indicated in cytogenetic result.

摘要

“伴有11q异常的伯基特样淋巴瘤”是世界卫生组织淋巴瘤分类最新修订版中的一个新的临时实体,其特征为携带特定的11q获得/缺失异常且无MYC重排。从形态学、表型以及基因和微小RNA表达谱来看,这些淋巴瘤与伯基特淋巴瘤相似。在无MYC重排但具有分子伯基特淋巴瘤特征的移植后患者中也发现了11q获得/缺失。最近的报告描述了同时存在11q获得/缺失和MYC重排的侵袭性淋巴瘤。在本报告中,我们描述了伴有11q异常和MYC扩增的移植后伯基特样淋巴瘤。在两个时间点进行了遗传学研究:治疗前和疾病进展期间。在两次细胞遗传学检查中,均检测到特殊的11q获得/缺失。携带MYC扩增的细胞百分比从初始诊断时的2%增加到疾病进展期间的97%。MYC扩增在功能上可能相当于MYC易位和MYC过表达。MYC扩增的存在似乎增加了所报告疾病进程的侵袭性,因此即使是具有这种变化的小克隆也应在细胞遗传学结果中指明。

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