E. Tausch, Cristina López, S. Stilgenbauer, R. Siebert
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引用次数: 0
摘要
世界卫生组织血液淋巴肿瘤分类》(WHO-HAEM5)第五版对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)在内的淋巴恶性肿瘤的分类进行了修订。对这两种疾病的前体状态(如单克隆 B 细胞淋巴细胞增多症和意义不明的单克隆淋巴瘤病(MGUS))进行了描述更新,包括一个更好的风险分层模型。关于突变景观和分支进化模式的新见解被作为诊断和预后因素纳入其中,同时对浆细胞肿瘤一章的结构进行了修订。因此,WHO-HAEM5 为淋巴恶性肿瘤领域的病理学家、临床医生、遗传学家和科学家带来了具有生物学和临床意义的实际改进。本综述概述了 CLL 和浆细胞肿瘤的基因改变情况,重点关注其对分类和治疗的影响。
Genetic alterations in chronic lymphocytic leukemia and plasma cell neoplasms – a practical guide to WHO HAEM5
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.
期刊介绍:
medizinischegenetik is a scientific journal that is owned and published by the German Society of Human Genetics e.V. since 1989. The journal was founded by Prof. Jan Murken, München. Self-published until 2006, from 2007-2019 published at Springer Verlag and since 2020 at De Gruyter.
medizinischegenetik serves education and training among colleagues, the interdisciplinary exchange of knowledge in all areas of human genetics in clinics, practice, research and teaching. Each issue of the quarterly journal deals with a focus that provides a comprehensive overview of current developments in specific clinical pictures, technical developments and therapeutic approaches. All reviews are written in English language. The journal thus creates a platform for the international exchange of knowledge and increased awareness of German research activities in the scientific community.
In addition, medizinischegenetik contains information on activities in its own subject in the German-language section. This includes conference reports, association announcements, personnel matters, statements and guidelines. With health policy questions, historical retrospectives and comments on current developments, the profession takes a stand on human genetic issues in Germany, Austria and Switzerland.