Document Type
Article
Publication Date
7-1-2025
Identifier
DOI: 10.3390/genes16070798; PMCID: PMC12294388
Abstract
Acute myeloid leukemia (AML) accounts for only about 15-20% of pediatric leukemia and an overall incidence of 1.4 cases per 200,000 children under the age of 15 years. The majority of pediatric AML occurs de novo, often as the result of somatic first hits in utero. A minority of pediatric AML occurs in response to a predisposition syndrome, such as a bone marrow failure syndrome, or other inherited mutations and copy number changes. While the overall survival of pediatric patients with AML is approximately 70%, survival at the individual level is dependent on the abnormality detected either through cytogenomic analyses or sequencing for mutations in responsible genes. Indeed, de novo infant AML carries a more sobering prognosis than that of pediatric AML. This review describes many of the common genomic abnormalities associated with pediatric AML and characterizes their detection from a laboratory assessment perspective. Pediatric AML is primarily a disease of gene rearrangements rather than of gene mutations, and, as such, clinical cytogenetics takes a primary role.
Journal Title
Genes (Basel)
Volume
16
Issue
7
MeSH Keywords
Humans; Leukemia, Myeloid, Acute; Child; Germ-Line Mutation; Mutation; Infant; Genetic Predisposition to Disease
PubMed ID
40725454
Keywords
cytogenetics; cytogenomics; de novo AML; genetic abnormalities; inherited AML; pediatric AML
Recommended Citation
Smith SC, Zhang L. Germline and Somatic Changes Associated with the Development of Inherited and De Novo Pediatric Acute Myeloid Leukemia. Genes (Basel). 2025;16(7):798. Published 2025 Jul 1. doi:10.3390/genes16070798
Comments
This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
Publisher's Link: https://www.mdpi.com/2073-4425/16/7/798