# Genetic alterations in lymphoblastic leukaemia / lymphoma – a practical guide to WHO HAEM5

**Authors:** Doris Steinemann, Małgorzata Dawidowska, Lisa J Russell, Christine J Harrison, Gudrun Göhring

PMC · DOI: 10.1515/medgen-2024-2007 · 2024-03-06

## 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.

## Key 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.

## Linked entities

- **Diseases:** lymphoblastic leukaemia (MONDO:0004967), lymphoma (MONDO:0003659)

## Full-text entities

- **Diseases:** B- and T-cell neoplasms (MESH:D016393), lymphoblastic leukaemia / lymphoma (MESH:D054218), haematolymphoid neoplasms (MESH:D009369), genetic abnormalities (MESH:D030342)

## Figures

6 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11006319/full.md

---
Source: https://tomesphere.com/paper/PMC11006319