Tausch Eugen, López Cristina, Stilgenbauer Stephan, Siebert Reiner
Ulm University Division of CLL, Department of Internal Medicine 3 Ulm Germany.
Institut d'Investigacions Biomèdiques August Phi i Sunyer (IDIBAPS) Barcelona Spain.
Med Genet. 2024 Mar 6;36(1):47-57. doi: 10.1515/medgen-2024-2006. eCollection 2024 Apr.
The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours (WHO-HAEM5) provides a revised classification of lymphoid malignancies including chronic lymphocytic leukemia (CLL) and plasma cell myeloma/multiple myeloma (PCM/MM). For both diseases the descriptions of precursor states such as monoclonal B-cell lymphocytosis and monoclonal gammopathy of uncertain significance (MGUS) have been updated including a better risk stratification model. New insights on mutational landscapes and branching evolutionary pattern were embedded as diagnostic and prognostic factors, accompanied by a revised structure for the chapter of plasma cell neoplasms. Thus, the WHO-HAEM5 leads to practical improvements of biological and clinical relevance for pathologists, clinicians, geneticists and scientists in the field of lymphoid malignancies. The present review gives an overview on the landscape of genetic alterations in CLL and plasma cell neoplasms with a focus on their impact on classification and treatment.
世界卫生组织血液淋巴肿瘤分类第5版(WHO-HAEM5)对淋巴系统恶性肿瘤进行了修订分类,包括慢性淋巴细胞白血病(CLL)和浆细胞骨髓瘤/多发性骨髓瘤(PCM/MM)。对于这两种疾病,诸如单克隆B淋巴细胞增多症和意义未明的单克隆丙种球蛋白病(MGUS)等前驱状态的描述已得到更新,包括一个更好的风险分层模型。关于突变图谱和分支进化模式的新见解被纳入诊断和预后因素,并伴有浆细胞肿瘤章节结构的修订。因此,WHO-HAEM5在淋巴系统恶性肿瘤领域为病理学家、临床医生、遗传学家和科学家带来了生物学和临床相关性方面的实际改进。本综述概述了CLL和浆细胞肿瘤中的基因改变情况,重点关注它们对分类和治疗的影响。