2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Genetic, pharmacogenetics and outcomes in a cohort of pediatric acute myeloid leukemia patients in two reference centers from Colombia.

Pdf Summary

This study focused on pediatric patients with acute myeloid leukemia (AML) in Colombia and aimed to describe and correlate genetic and pharmacogenetic variants with clinical characteristics and outcomes. The study included 51 samples from patients with de novo AML. Various tests were conducted, including conventional and molecular cytogenetic studies, molecular testing, and next-generation sequencing. Pharmacogenetic variants were also analyzed.<br /><br />The results showed that 67.4% of the cohort had chromosomal abnormalities, and 74.5% had at least one genetic variant. The most common genetic variant found was FLT3, followed by NRAS, KRAS, WT1, and KIT. After the end of induction, 66.6% of patients were stratified as high risk.<br /><br />Significant associations were found between certain genetic variants and outcomes. FLT3-ITD was associated with relapse, while NRAS was associated with death during induction. Patients carrying a specific genotype in the ABCB1 gene had a higher risk of cardiotoxicity compared to those with a different genotype.<br /><br />The study also identified associations between genetic variants and treatment response. The combined genotypes of ABCB1 and CDA genes were associated with minimal residual disease (MRD) after the first cycle of chemotherapy.<br /><br />Overall, this study provides valuable insights into the genetic and pharmacogenetic profile of pediatric AML in Colombia. The findings highlight the importance of incorporating genetic testing into the management of pediatric AML to improve risk stratification and personalize therapy based on mutational patterns. Further research and implementation of genetic testing in clinical practice are necessary in order to enhance survival outcomes for these patients.

Asset Subtitle

Presenting Author - Luz K. Yunis, MD, MSc, PhD(c); Co-Author - Adriana F. Linares, MD; Co-Author - Gisela Barros, MD; Co-Author - Johnny Garcia, MD; Co-Author - Nelson Aponte, MD; Co-Author - Laura Niño, MD; Co-Author - Gloria Uribe, MSc; Co-Author - Edna Quintero, MD; Co-Author - Jaime Perez, MD; Co-Author - Leila Martinez, MD; Co-Author - Juan J. Yunis, MD, MSc;

Meta Tag

Bioinformatics

Cancer Cytogenetics

Chromosomal Abnormalities

Clinical Cytogenetics

Cytogenetics

Genetic Diversity

Molecular Cytogenetics

NextGen Sequencing

Oncogenesis

Pharmacogenomics

Polymorphism

Co-Author Adriana F. Linares, MD

Co-Author Gisela Barros, MD

Co-Author Johnny Garcia, MD

Co-Author Nelson Aponte, MD

Co-Author Laura Niño, MD

Co-Author Gloria Uribe, MSc

Co-Author Edna Quintero, MD

Co-Author Jaime Perez, MD

Co-Author Leila Martinez, MD

Co-Author Juan J. Yunis, MD, MSc

Presenting Author Luz K. Yunis, MD, MSc, PhD(c)

Keywords

pediatric patients

acute myeloid leukemia

AML

Colombia

genetic variants

pharmacogenetic variants

chromosomal abnormalities

risk stratification

genetic testing

personalized therapy