Richard S. Rodriguez
Medical Geneticist at Instituto Nacional de Salud del Nio San Borja of Peru and graduate of the Master’s program in Epidemiological Research at Cayetano Heredia University. Main research interests in analysis and clinical interpretation of genomic variations in Peruvian population, genomic cancer medicine and genetic epidemiology. Currently, I collaborate in the clinical interpretation of somatic and germline genetic variants in the pediatric population with leukemias in Peru. Main research interests are to contribute to the analysis and clinical interpretation of genomic variations, cancer genomic medicine and genetic epidemiology in Peruvian population.
Abstract
Richard S. Rodriguez, Jeny Bazalar-Montoya, Guillermo Romero-Guerra, Julissa Fuentes-Vera, Monica Correa-Guerrero, Francisco Sanchez-Pinto, Mabel Aucca-Vitorino, Ricardo Abanto-Hinostroza, Sergio Murillo-Vizcarra, Victoria Godoy-Vila, Gioconda Manassero-Morales
Instituto Nacional de Salud del Niño San Borja; School of P, Lima, Peru
Introduction: Next Generation Sequencing (NGS) are useful tools for precision medicine in pediatric B-cell acute lymphoblastic leukemia (B-ALL). Early detection, accurate diagnosis, stratification of risk groups and timely treatment lead to improved outcomes. In developing countries, the survival rate is less than 60% and relapses exceed 30%. Determine the frequency, B-ALL subtype and genetic risk group from biomarkers detected by NGS.
Methods: A single-center observational study was conducted in patients with newly diagnosed pediatric B-ALL admitted to our institution in 2021-2022. NGS was performed on genomic DNA and RNA from peripheral blood or bone marrow samples. Clinical interpretation of genomic data was performed according to ClinGen/CGC/VICC. We performed the identification of the genetic subtype of B-ALL according to WHO and genetic risk stratification according to NCCN.
Results: A total of 136 patients were included (median [p25-p75] age, 6.0 [3.7-10.8) years; 73 (53.7%) male). Genetic biomarker frequency such as fusion genes, point mutations and copy number alterations was observed in 61 (44.9%), 75 (55.2%) and 60 (44.1%) participants, respectively. In total, 61 participants (44.9%) had a genetic subtype of pediatric B-ALL. A favorable and unfavorable genetic risk was observed in 14 and 50 participants, respectively.
Conclusions: Timely detection of genetic biomarkers in newly diagnosed pediatric B-ALL guides the physician to a risk-directed management of each patient. We hope that this first cohort will be the beginning of future efforts to fight pediatric B-ALL and contribute to reducing the high rate of relapse and mortality in our population.