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

Claudia HaferlachGerman OttKatharina HörstConstanze KühnTorsten HaferlachReiner Siebert
Published in: Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V (2024)
The landscape of haematological malignancies is constantly evolving, driven by advances in our understanding of their genetic basis. This has cumulated within the 5 th 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 5 th Edition of the WHO classification (WHO-HAEM5) and its diagnostic relevance in the context of various haematological malignancies.
Keyphrases
  • deep learning
  • machine learning
  • genome wide
  • gene expression
  • systematic review