Relationship between Down syndrome and acute myeloid leukemia

Abstract

Introduction: Down syndrome, or trisomy 21, leads to a wide range of medical complications, including cardiac abnormalities, immune disorders, and hematologic neoplasms such as acute myeloid leukemia.

Objective: To systematize the relationship between Down syndrome and acute myeloid leukemia, considering their clinical, genetic, and epidemiological characteristics.

Methods: A bibliographic review was conducted of articles published between 2020 and 2025 in Spanish and English, using information resources available through Infomed (PubMed, PubMed Central, SciELO, EBSCO), as well as Google Scholar. A total of 53 references were consulted, of which 27 were selected; 90% corresponded to the last five years, and more than 55% to the last three years. Theoretical methods employed included the historical-logical, analytical-synthetic, and inductive-deductive approaches, complemented by empirical methods such as documentary analysis.

Development: Down syndrome is associated with reduced intellectual development, learning difficulties, and multiple health problems, including acute myeloid leukemia. Notably, children with trisomy 21 have a 150-fold increased risk of developing this hematologic condition. The biological mechanisms underlying this association are complex and multifactorial.

Conclusions: The incidence of acute myeloid leukemia is higher in patients with Down syndrome, who exhibit characteristic features of this hematologic condition, suggesting a genetic predisposition linked to trisomy 21.