Next-generation sequencing implementation in Mexican adults with acute myeloid leukemia

Comprehensive genomic analysis is essential for risk stratification and therapeutic decision making in acute myeloid leukemia (AML). However, access to next-generation sequencing (NGS) remains limited in low- and middle-income countries (LMICs). We conducted a single-center prospective cohort study to evaluate the feasibility of implementing a local, clinical-grade automated NGS platform for adults with AML in a resource-limited setting. Thirty-seven consecutive adults with a median age of 47 years and newly diagnosed non-promyelocytic AML underwent genomic profiling using an automated sequencing system with a targeted myeloid panel. Results were compared with available karyotype and polymerase chain reaction, and Sanger sequencing results and genetic risk stratification was assessed according to contemporary classification systems. NGS was successfully performed in all patients, identifying pathogenic or likely pathogenic variants in all cases, with a median of 3 mutations per patient. Concordance of NGS and conventional testing was 97%. NGS data provided potentially clinically actionable information in 78% of cases, primarily through identification of measurable residual disease targets and potential changes in genetic risk classification. The genomic landscape in this cohort was characterized by a high frequency of FLT3 internal tandem duplications and NRAS mutations, and a low prevalence of age-associated variants such as NPM1, DNMT3A, and TET2. These findings demonstrated that implementation of automated NGS is technically feasible and delivers clinically useful results in an environment with limited resources.