Genetic alterations in lymphoblastic leukaemia / lymphoma – a practical guide to WHO HAEM5
Doris Steinemann, Małgorzata Dawidowska, Lisa J Russell, Christine J Harrison, Gudrun Göhring

TL;DR
This paper provides a practical guide for understanding genetic aspects of lymphoblastic leukaemia/lymphoma based on the 2024 WHO classification.
Contribution
It introduces a diagnostic framework for genetic subtypes in lymphoblastic leukaemia/lymphoma according to WHO-HAEM5.
Findings
WHO-HAEM5 emphasizes the role of genetics in diagnosing lymphoid neoplasia.
The guide outlines essential and desirable diagnostic criteria for risk stratification and treatment.
It categorizes genetic abnormalities in precursor B- and T-cell neoplasms.
Abstract
We present a practical guide for analyzing the genetic aspects of lymphoblastic leukaemia/lymphoma according to the 5th edition of the World Health Organization (WHO) classification of haematolymphoid neoplasms (WHO-HAEM5) issued in 2024. The WHO-HAEM5 acknowledges the increasing importance of genetics in the diagnosis of lymphoid neoplasia. Classification is based on the established genetic subtypes according to cell lineage, with precursor cell neoplasms followed by mature malignancies. This guide describes those genetic abnormalities in acute precursor B- and T-cell neoplasms required for risk stratification, and for treatment, providing diagnostic algorithms under the headings of ‘essential’ and ‘desirable’ diagnostic criteria.
Genes, proteins, chemicals, diseases, species, mutations and cell lines named across the full text — each resolved to its canonical identifier and authoritative record.
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Taxonomy
TopicsAcute Lymphoblastic Leukemia research · Acute Myeloid Leukemia Research · Childhood Cancer Survivors' Quality of Life
