Identification of CD5/SOX11 double-negative pleomorphic mantle cell lymphoma.

IF 3.4 3区 医学 Q1 PATHOLOGY
Virchows Archiv Pub Date : 2024-08-01 Epub Date: 2024-05-11 DOI:10.1007/s00428-024-03813-9
Wen-Yu Chuang, Hung Chang, Lee-Yung Shih, Tsung-Chieh Lin, Chi-Ju Yeh, Shir-Hwa Ueng, Ming-Chung Kuo, Hsiao-Wen Kao, Hsuan Liu, Sheng-Tsung Chang, Chih-Ling Lee, Kuan-Po Huang, Tong-Hong Wang, Yung-Liang Wan, Jau-Song Yu, Chuen Hsueh, Shih-Sung Chuang
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引用次数: 0

Abstract

Cyclin D1 protein-positive diffuse large B cell lymphoma (DLBCL) has an immunophenotype of CD5(-) cyclin D1(+) SOX11(-), and most cases lack a CCND1 rearrangement and have a gene expression profile of DLBCL. Rarely, cyclin D1 protein-positive DLBCL harbors a CCND1 rearrangement, and some genetic copy number features typical of mantle cell lymphoma (MCL) have been detected. Since gene expression studies have not been performed, whether such CCND1-rearranged cases represent cyclin D1 protein-positive DLBCL or CD5/SOX11 double-negative pleomorphic MCL remains unclear. To date, no cases of CD5/SOX11 double-negative MCL have been reported. In this study, we collected eight cases initially diagnosed as cyclin D1 protein-positive DLBCL, including four with a CCND1 rearrangement and four without. Immunohistochemically, all four CCND1-rearranged cases had >50% of tumor cells positive for cyclin D1 protein, whereas only one (25%) non-rearranged case had >50% positive tumor cells. Analysis of genome-wide copy number, mutational, and gene expression profiles revealed that CCND1-rearranged cases were similar to MCL, whereas CCND1-non-rearranged cases resembled DLBCL. Despite the SOX11 negativity by immunohistochemistry, CCND1-rearranged cases had a notable trend (P = 0.064) of higher SOX11 mRNA levels compared to non-rearranged cases. Here, we show for the first time that CCND1 rearrangement could be useful for identifying CD5/SOX11 double-negative pleomorphic MCL in cases diagnosed as cyclin D1 protein-positive DLBCL. Cases with >50% cyclin D1 protein-positive tumor cells immunohistochemically and higher SOX11 mRNA levels are more likely to have a CCND1 rearrangement, and fluorescence in situ hybridization can be used to detect the rearrangement.

Abstract Image

CD5/SOX11双阴性套细胞淋巴瘤的鉴定。
细胞周期蛋白D1蛋白阳性弥漫大B细胞淋巴瘤(DLBCL)的免疫表型为CD5(-)细胞周期蛋白D1(+)SOX11(-),大多数病例缺乏CCND1重排,基因表达谱为DLBCL。罕见的是,细胞周期蛋白 D1 蛋白阳性的 DLBCL 会出现 CCND1 重排,并检测到套细胞淋巴瘤(MCL)的一些典型基因拷贝数特征。由于尚未进行基因表达研究,此类CCND1重排病例是代表细胞周期蛋白D1蛋白阳性的DLBCL还是CD5/SOX11双阴性多形性MCL仍不清楚。迄今为止,还没有关于CD5/SOX11双阴性MCL病例的报道。在本研究中,我们收集了8例最初诊断为细胞周期蛋白D1蛋白阳性DLBCL的病例,其中4例有CCND1重排,4例无CCND1重排。免疫组化结果显示,所有四例CCND1重排病例均有>50%的肿瘤细胞细胞周期蛋白D1蛋白阳性,而只有一例(25%)非重排病例有>50%的肿瘤细胞阳性。对全基因组拷贝数、突变和基因表达谱的分析表明,CCND1重排病例与MCL相似,而CCND1未重排病例则与DLBCL相似。尽管免疫组化显示SOX11阴性,但CCND1重排病例与非重排病例相比,SOX11 mRNA水平有明显升高趋势(P = 0.064)。在此,我们首次表明,CCND1重排可用于鉴别被诊断为细胞周期蛋白D1蛋白阳性DLBCL病例中的CD5/SOX11双阴性多形性MCL。免疫组化结果显示细胞周期蛋白D1蛋白阳性的肿瘤细胞>50%且SOX11 mRNA水平较高的病例更有可能存在CCND1重排,荧光原位杂交可用于检测该重排。
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来源期刊
Virchows Archiv
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.
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