AUTHOR=Sepúlveda-Robles Omar , Jiménez-Hernández Elva , Domínguez-Catzín Victoria , Gómez-Flores Eber , Martín-Trejo Jorge Alfonso , Flores-Lujano Janet , Torres-Nava José Refugio , Núñez-Enríquez Juan Carlos , De Ita Marlon , Medina-Sanson Aurora , Mata-Rocha Minerva , Morales-Castillo Blanca Angelica , Bravata-Alcántara Juan Carlos , Nájera-Cortés Alan Steve , Sánchez-Escobar Norberto , Peñaloza-Gonzalez José Gabriel , Espinosa-Elizondo Rosa Martha , Flores-Villegas Luz Victoria , Amador-Sanchez Raquel , Orozco-Ruiz Darío , Pérez-Saldívar Maria Luisa , Velázquez-Aviña Martha Margarita , Merino-Pasaye Laura Elizabeth , Solís-Labastida Karina Anastacia , González-Ávila Ana Itamar , Santillán-Juárez Jessica Denisse , Bekker-Méndez Vilma Carolina , Jiménez-Morales Silvia , Rangel-López Angélica , Rosas-Vargas Haydeé , Mejía-Aranguré Juan Manuel 

TITLE=Analytical study of RUNX1-RUNXT1, PML-RARA, CBFB-MYH11, BCR-ABL1p210, and KMT2-MLLT3 in Mexican children with acute myeloid leukemia: A multicenter study of the Mexican interinstitutional group for the identification of the causes of childhood leukemia (MIGICCL)

JOURNAL=Frontiers in Pediatrics

VOLUME=10

YEAR=2022

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2022.946690

DOI=10.3389/fped.2022.946690

ISSN=2296-2360

ABSTRACT=<sec><title>Background</title><p>The distribution of <italic>RUNX1-RUNXT1</italic>, <italic>PML-RARA</italic>, <italic>CBFB-MYH11</italic>, <italic>BCR-ABL1<sup>p210</sup></italic>, and <italic>KMT2A-MLLT3</italic> in the pediatric population with acute myeloid leukemia (AML) in many countries of Latin America is largely unknown. Therefore, we aimed to investigate the frequency of these fusion genes in children with <italic>de novo</italic> AML from Mexico City, which has one of the highest incidence rates of acute leukemia in the world. Additionally, we explored their impact in mortality during the first year of treatment.</p></sec><sec><title>Methods</title><p>We retrospectively analyzed the presence of <italic>RUNX1-RUNXT1</italic>, <italic>PML-RARA</italic>, <italic>CBFB-MYH11</italic>, <italic>BCR-ABL1<sup>p210</sup></italic>, and <italic>KMT2A-MLLT3</italic> by RT-PCR among 77 patients (&lt;18 years) diagnosed with <italic>de novo</italic> AML between 2019 and 2021 in nine Mexico City hospitals.</p></sec><sec><title>Results</title><p>The overall frequency of the fusion genes was 50.7%; <italic>RUNX1-RUNXT1</italic> (22.1%) and <italic>PML-RARA</italic> (20.8%) were the most prevalent, followed by <italic>CBFB-MYH11</italic> (5.2%) and <italic>BCR-ABL1<sup>p210</sup></italic> (2.4%). <italic>KMT2A-MLLT3</italic> was not detected. Patients with <italic>PML-RARA</italic> showed the lowest survival with high early mortality events. However, more studies are required to evaluate the impact of analyzed fusion genes on the overall survival of the Mexican child population with AML.</p></sec><sec><title>Conclusion</title><p>The pediatric population of Mexico City with AML had frequencies of <italic>AML1-ETO</italic>, <italic>PML-RARA</italic>, <italic>CBFB-MYH11</italic>, and <italic>BCR-ABL1<sup>p210</sup></italic> similar to those of other populations around the world. Patients with <italic>BCR-ABL1<sup>p210</sup></italic>and <italic>CBFB-MYH11</italic> were few or did not die, while those with <italic>MLL-AF9</italic> was not detected. Although patients with <italic>PML-RARA</italic> had a low survival and a high early mortality rate, further studies are needed to determine the long-term impacts of these fusion genes on this Latino population.</p></sec>