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Review
. 2021 Jun 17;12(6):924.
doi: 10.3390/genes12060924.

Cytogenetics of Pediatric Acute Myeloid Leukemia: A Review of the Current Knowledge

Julie Quessada  1   2 , Wendy Cuccuini  3   4 , Paul Saultier  5   6 , Marie Loosveld  2   7 , Christine J Harrison  8 , Marina Lafage-Pochitaloff  1   4
Affiliations
Review

Cytogenetics of Pediatric Acute Myeloid Leukemia: A Review of the Current Knowledge

Julie Quessada et al. Genes (Basel). .

Abstract

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.

Keywords: FISH; acute megakaryoblastic leukemia; acute myeloid leukemia; children hematological malignancies; cytogenetics; genomics; infant leukemia; karyotype; pediatrics; risk-adapted therapy; therapeutic trials.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Distribution of cytogenetic subgroups in pediatric AML. * As a sole abnormality.
Figure 2
Figure 2
Distribution of cytogenetic subgroups in non-DS pediatric AMKL (adapted from De Rooij 2017 [63] and Masetti 2019 [65].
See this image and copyright information in PMC

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