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细胞周期蛋白D1重排作为伴有TP53缺失的脾边缘区淋巴瘤大细胞转化中的继发事件。

Cyclin-D1 rearrangement as a secondary event in the large cell transformation of splenic marginal zone lymphoma with a TP53 deletion.

作者信息

George Giby V, Adlowitz Diana G, Okeson K Riley, Jelloul Fatima Zahra, Fang Hong, Wang Wei, O'Malley Dennis P, Medeiros L Jeffrey, El Hussein Siba

机构信息

Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, NY, USA.

Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.

出版信息

Virchows Arch. 2024 Oct 21. doi: 10.1007/s00428-024-03946-x.

DOI:10.1007/s00428-024-03946-x
PMID:39432092
Abstract

IGH

:CCND1 translocation has been implicated as a preliminary finding in mantle cell lymphoma (MCL) and plasma cell myeloma, with cyclin D1 over-expression by immunohistochemistry stain, without gene rearrangement, reported in other hematologic neoplasms. CCND1 rearrangement has been reported infrequently as a secondary event in high-grade B-cell lymphomas. We present the case of an elderly man who was found to have a splenic marginal zone lymphoma with a heterozygous TP53 deletion. Years later at the time of relapse, the patient acquired a CCND1 rearrangement, in addition to a persistent TP53 deletion. Sequencing of the two lymphomas demonstrated clonal relatedness of the two processes. To our knowledge, this is the first report of a splenic marginal zone lymphoma with a TP53 deletion at diagnosis, evolving into a large B-cell lymphoma with a CCND1 rearrangement.

摘要

IGH

:CCND1易位已被认为是套细胞淋巴瘤(MCL)和浆细胞骨髓瘤的初步发现,其他血液系统肿瘤中通过免疫组织化学染色发现细胞周期蛋白D1过表达,但无基因重排。CCND1重排作为高级别B细胞淋巴瘤的继发事件鲜有报道。我们报告了一例老年男性患者,其被发现患有伴有杂合性TP53缺失的脾边缘区淋巴瘤。数年后复发时,患者除持续存在TP53缺失外,还出现了CCND1重排。对这两种淋巴瘤进行测序显示这两个过程存在克隆相关性。据我们所知,这是首例诊断时伴有TP53缺失的脾边缘区淋巴瘤演变为伴有CCND1重排的大B细胞淋巴瘤的报告。

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本文引用的文献

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Predictive and prognostic molecular biomarkers in lymphomas.淋巴瘤的预测和预后分子生物标志物。
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Subclonal TP53 mutations are frequent and predict resistance to radioimmunotherapy in follicular lymphoma.亚克隆 TP53 突变在滤泡性淋巴瘤中很常见,并预测对放射免疫治疗的耐药性。
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Pathol Int. 2015 Oct;65(10):519-27. doi: 10.1111/pin.12335. Epub 2015 Jul 29.
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