Genetic studies in clonal haematopoiesis, myelodysplastic neoplasms and acute myeloid leukaemia – a practical guide to WHO-HAEM5
Katharina Hörst, Constanze Kühn, Claudia Haferlach, Torsten Haferlach, Joseph D. Khoury
TL;DR
This paper provides a practical guide for understanding genetic aspects of blood disorders like clonal haematopoiesis and leukaemia based on the new WHO classification.
Contribution
The paper introduces a practical guide for analyzing genetic aspects of myeloid neoplasms according to the upcoming WHO-HAEM5 classification.
Findings
The guide outlines genetic abnormalities required for classification of myeloid neoplasms.
Diagnostic algorithms are provided for clonal haematopoiesis, MDS, and AML.
Abstract
In recent years, technology developments and increase in knowledge have led to profound changes in the diagnostics of haematologic neoplasms, particularly myeloid neoplasms. Therefore an updated, fifth edition of the World Health Organization (WHO) classification of haematolymphoid neoplasms (WHO-HAEM5) will be issued in 2024. In this context, we present a practical guide for analysing the genetic aspects of clonal haematopoiesis of indeterminate potential (CHIP), clonal cytopenia of undetermined significance (CCUS), myelodysplastic neoplasms (MDS), and acute myeloid leukaemia (AML) based on WHO-HAEM5. This guide navigates through the genetic abnormalities underlying myeloid neoplasms which are required to be detected for classification according to WHO-HAEM5 and provides diagnostic algorithms.
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Taxonomy
TopicsAcute Myeloid Leukemia Research · Myeloproliferative Neoplasms: Diagnosis and Treatment · Hematological disorders and diagnostics