Ok Chi Young, Medeiros L Jeffrey
Department of Hematopathology, The University of Texas M.D. Anderson Cancer Center, Houston, TX, USA.
Department of Hematopathology, The University of Texas M.D. Anderson Cancer Center, Houston, TX, USA.
Hum Pathol. 2025 Feb;156:105698. doi: 10.1016/j.humpath.2024.105698. Epub 2024 Nov 19.
Cyclin D1-negative mantle cell lymphoma (MCL) is regarded as a B-cell neoplasm that has morphologic and immunophenotypic findings indistinguishable from typical MCL. These neoplasms lack cyclin D1 overexpression by immunohistochemistry and t(11;14)(q13;q32)/IGH::CCND1. Since cyclin D1-negative MCL was first recognized by gene expression profiling in 2003, there has been diagnostic confusion regarding this entity, mostly attributable to a lack of diagnostic tools to recognize these neoplasms in most clinical laboratories. Accumulated data show that most cyclin D1-negative MCL cases harbor CCND2 or CCND3 translocation with a variety of gene partners. In this review, the concept of cyclin D1-negative MCL is discussed in chronological order to further our understanding of this entity. We then discuss currently available diagnostic approaches and we conclude with future directions. We also suggest that the more specific terms CCND2-rearranged MCL or CCND3-rearranged MCL be used for neoplasms in which the rearranged gene is known, and that we reserve the term cyclin D1-negative MCL for neoplasms in which the rearranged gene in unknown.
细胞周期蛋白D1阴性套细胞淋巴瘤（MCL）被视为一种B细胞肿瘤，其形态学和免疫表型表现与典型MCL难以区分。这些肿瘤通过免疫组织化学检测缺乏细胞周期蛋白D1的过表达，且不存在t(11;14)(q13;q32)/IGH::CCND1。自2003年细胞周期蛋白D1阴性MCL首次通过基因表达谱被识别以来，对于该实体一直存在诊断上的困惑，这主要归因于大多数临床实验室缺乏识别这些肿瘤的诊断工具。累积数据表明，大多数细胞周期蛋白D1阴性MCL病例存在CCND2或CCND3与多种基因伙伴的易位。在本综述中，将按时间顺序讨论细胞周期蛋白D1阴性MCL的概念，以加深我们对该实体的理解。然后我们讨论目前可用的诊断方法，并以未来方向作为总结。我们还建议，对于已知重排基因的肿瘤，使用更具体的术语CCND2重排MCL或CCND3重排MCL，而对于重排基因未知的肿瘤，保留细胞周期蛋白D1阴性MCL这一术语。
