Hematopathology Section, Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland.
Am J Pathol. 2023 Dec;193(12):1880-1886. doi: 10.1016/j.ajpath.2023.08.012. Epub 2023 Sep 19.
The modern taxonomy of disease builds a framework for precision medicine, by which traditional pathologic criteria are integrated with clinical and genomic features to define disease entities. Two of the most common subtypes of lymphoma on a worldwide basis are follicular lymphoma (FL) and diffuse large B-cell lymphoma. Although BCL2 translocation is the signature lesion of most nodal FL, recent studies have identified significant diversity among follicle center-derived lesions. BCL2-negative FL is a genetically heterogeneous disease that occurs in both nodal and extranodal sites. Several distinct entities have been recognized in the pediatric age group, including pediatric-type FL, testicular FL, and interferon regulatory factor 4 (IRF4)-rearranged large B-cell lymphoma. Diffuse large B-cell lymphoma is a family of aggressive B-cell neoplasms with marked variation in pathogenesis and clinical features. Gene expression profiling >20 years ago identified the cell of origin as a key discriminator, but more recently high-throughput sequencing has identified highly varied mutational profiles that point the way in the future toward improvements in targeted therapy and patient outcome.
现代疾病分类学为精准医学构建了一个框架，通过将传统的病理标准与临床和基因组特征相结合，来定义疾病实体。在全球范围内，最常见的两种淋巴瘤亚型是非霍奇金淋巴瘤中的滤泡性淋巴瘤（FL）和弥漫性大 B 细胞淋巴瘤。尽管 BCL2 易位是大多数结内 FL 的特征性病变，但最近的研究表明，滤泡中心来源的病变存在显著的异质性。BCL2 阴性 FL 是一种遗传异质性疾病，可发生在结内和结外部位。在儿科年龄组中已经识别出几种不同的实体，包括儿科型 FL、睾丸 FL 和干扰素调节因子 4（IRF4）重排的大 B 细胞淋巴瘤。弥漫性大 B 细胞淋巴瘤是一组侵袭性 B 细胞肿瘤，其发病机制和临床特征存在明显差异。20 多年前的基因表达谱分析确定了细胞起源是一个关键的鉴别因素，但最近高通量测序已经确定了高度多样化的突变谱，为未来改善靶向治疗和患者预后指明了方向。
