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Cytogenetics of pediatric acute myeloid leukemia: A review of the current knowledge

Lookup NU author(s): Professor Christine Harrison FRCPath FMedSci



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


© 2021 by the authors. Licensee MDPI, Basel, Switzerland.Pediatric acute myeloid leukemia is a rare and heterogeneous disease in relation to morphology, immunophenotyping, germline and somatic cytogenetic and genetic abnormalities. Over recent decades, outcomes have greatly improved, although survival rates remain around 70% and the relapse rate is high, at around 30%. Cytogenetics is an important factor for diagnosis and indication of prognosis. The main cytogenetic abnormalities are referenced in the current WHO classification of acute myeloid leukemia, where there is an indication for risk-adapted therapy. The aim of this article is to provide an updated review of cytogenetics in pediatric AML, describing well-known WHO entities, as well as new subgroups and germline mutations with therapeutic implications. We describe the main chromosomal abnormalities, their frequency according to age and AML subtypes, and their prognostic relevance within current therapeutic protocols. We focus on de novo AML and on cytogenetic diagnosis, including the practical difficulties encountered, based on the most recent hematological and cytogenetic recommendations.

Publication metadata

Author(s): Quessada J, Cuccuini W, Saultier P, Loosveld M, Harrison CJ, Lafage-Pochitaloff M

Publication type: Article

Publication status: Published

Journal: Genes

Year: 2021

Volume: 12

Issue: 6

Print publication date: 01/06/2021

Online publication date: 17/06/2021

Acceptance date: 14/06/2021

Date deposited: 08/07/2021

ISSN (electronic): 2073-4425

Publisher: MDPI AG


DOI: 10.3390/genes12060924


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