Overview on WHO-HAEM5 and the diagnostic relevance of genetic alterations for the classification

Pub Date : 2024-03-04 DOI:10.1515/medgen-2024-2008
C. Haferlach, German Ott, Katharina Hörst, Constanze Kühn, T. Haferlach, R. Siebert
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Abstract

The landscape of haematological malignancies is constantly evolving, driven by advances in our understanding of their genetic basis. This has cumulated within the 5th Edition of the World Health Organization (WHO) Classification of Haematolymphoid Tumours published in short form in 2022 [1, 2] and being available in full length both as “Blue Book” (in print expected early 2024) as well as web-based classification (see: https://tumourclassification.iarc.who.int/welcome/). Similarly, the importance of genetic alterations for the classification is highlighted in other classification systems related to haematologic neoplasms [3–5]. In this special issue of the Medizinische Genetik, we present a comprehensive overview of the genetic alterations contributing to the classification of haematolymphoid neoplasms in the 5th Edition of the WHO classification (WHO-HAEM5) and its diagnostic relevance in the context of various haematological malignancies.
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世界卫生组织-HAEM5 概述以及基因改变对分类的诊断意义
随着我们对血液恶性肿瘤遗传基础认识的不断深入,血液恶性肿瘤的情况也在不断变化。世界卫生组织(WHO)《血液淋巴肿瘤分类》第五版于 2022 年出版了简本[1, 2],并以 "蓝皮书"(预计 2024 年初印刷)和网络分类(见 https://tumourclassification.iarc.who.int/welcome/)的形式全文发布。同样,其他与血液肿瘤相关的分类系统也强调了基因改变对分类的重要性[3-5]。在本期《遗传医学》(Medizinische Genetik)特刊中,我们将全面概述有助于第五版世界卫生组织分类法(WHO-HAEM5)中血液淋巴肿瘤分类的基因改变及其在各种血液恶性肿瘤中的诊断意义。
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