细胞周期蛋白-D1重排是TP53缺失的脾边缘区淋巴瘤大细胞转化的继发事件。

IF 3.4 3区医学 Q1 PATHOLOGY Virchows Archiv Pub Date : 2024-10-21 DOI:10.1007/s00428-024-03946-x

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

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摘要

IGH::CCND1易位是套细胞淋巴瘤（MCL）和浆细胞骨髓瘤的初步发现，免疫组化染色显示细胞周期蛋白D1过度表达，而其他血液肿瘤则未见基因重排。CCND1 基因重排作为高分化 B 细胞淋巴瘤的继发病变鲜有报道。我们报告了一例老年男性病例，他被发现患有脾边缘区淋巴瘤，并伴有杂合子 TP53 缺失。多年后复发时，患者除了TP53持续缺失外，还出现了CCND1重排。对这两种淋巴瘤的测序结果表明，这两种淋巴瘤具有克隆相关性。据我们所知，这是首例诊断时TP53缺失的脾边缘区淋巴瘤演变为CCND1重排的大B细胞淋巴瘤的报告。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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

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.

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来源期刊

Virchows Archiv 医学-病理学

CiteScore

7.40

自引率

2.90%

发文量

204

审稿时长

4-8 weeks

期刊介绍： Manuscripts of original studies reinforcing the evidence base of modern diagnostic pathology, using immunocytochemical, molecular and ultrastructural techniques, will be welcomed. In addition, papers on critical evaluation of diagnostic criteria but also broadsheets and guidelines with a solid evidence base will be considered. Consideration will also be given to reports of work in other fields relevant to the understanding of human pathology as well as manuscripts on the application of new methods and techniques in pathology. Submission of purely experimental articles is discouraged but manuscripts on experimental work applicable to diagnostic pathology are welcomed. Biomarker studies are welcomed but need to abide by strict rules (e.g. REMARK) of adequate sample size and relevant marker choice. Single marker studies on limited patient series without validated application will as a rule not be considered. Case reports will only be considered when they provide substantial new information with an impact on understanding disease or diagnostic practice.