Dataset Information

Low Prevalence of ETV6::RUNX1 Fusion Gene in a Hispanic Population.

ABSTRACT: ETV6::RUNX1 is a genetic rearrangement of good prognosis in children with acute lymphoblastic leukemia (ALL). In Mexico, its prevalence is low in comparison with Caucasian populations. We developed a novel TaqMan one-step RT-qPCR approach to assess the prevalence of four genetic rearrangements in a cohort of Hispanic children with ALL from Mexico City. The prevalence of common fusion gene transcripts was as follows: TCF3::PBX1 7.7%; BCR::ABL1p ¹⁹⁰ 3.3%; and KMT2A::AFF1 2.8%, and ETV6::RUNX1was observed with low prevalence (10.5%) in comparison to that reported for developed countries. This is consistent with previous findings on Mexican children with ALL and similar to those reported on children from Hispanic populations. The confirmation of a low prevalence of ETV6::RUNX1 in children of a Hispanic origin represents an advancement in the description of genetic factors of ALL in these populations.

SUBMITTER: Mata-Rocha M

PROVIDER: S-EPMC9171364 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

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Low Prevalence of ETV6::RUNX1 Fusion Gene in a Hispanic Population.

Mata-Rocha Minerva M Rangel-López Angelica A Jimenez-Hernandez Elva E Nuñez-Enríquez Juan Carlos JC Morales-Castillo Blanca Angélica BA Sánchez-Escobar Norberto N Sepúlveda-Robles Omar Alejandro OA Bravata-Alcántara Juan Carlos JC Nájera-Cortés Alan Steve AS Pérez-Saldivar María Luisa ML Flores-Lujano Janet J Duarte-Rodríguez David Aldebarán DA Oviedo de Anda Norma Angélica NA Romero Tlalolini Maria de Los Angeles MLA Alaez Verson Carmen C Martín-Trejo Jorge Alfonso JA Muñoz Medina Jose Esteban JE Gonzalez-Bonilla Cesar Raul CR Hernandez Cueto Maria de Los Angeles MLA Bekker-Méndez V C VC Jiménez-Morales Silvia S Medina-Sansón Aurora A Amador-Sánchez Raquel R Peñaloza-González José Gabriel JG Torres-Nava José Refugio JR Espinosa-Elizondo Rosa Martha RM Cortés-Herrera Beatriz B Flores-Villegas Luz Victoria LV Merino-Pasaye Laura Elizabeth LE Gutierrez-Rivera Maria de Lourdes ML Velazquez-Aviña Martha Margarita MM Santillan-Juarez Jessica Denisse JD Gurrola-Silva Alma A Hernández Echáurregui Gabriela Alicia GA Hidalgo-Miranda Alfredo A Arellano Galindo José J Rosas-Vargas Haydeé H Mejía-Aranguré Juan Manuel JM

Frontiers in pediatrics 20220524

ETV6::RUNX1 is a genetic rearrangement of good prognosis in children with acute lymphoblastic leukemia (ALL). In Mexico, its prevalence is low in comparison with Caucasian populations. We developed a novel TaqMan one-step RT-qPCR approach to assess the prevalence of four genetic rearrangements in a cohort of Hispanic children with ALL from Mexico City. The prevalence of common fusion gene transcripts was as follows: TCF3::PBX1 7.7%; BCR::ABL1p 190 3.3%; and KMT ...[more]

PMID: 35685921

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Project description:Background: ETV6/RUNX1 (E/R) (also known as TEL/AML1) is the most frequent gene fusion in childhood acute lymphoblastic leukemia (ALL) and also most likely the crucial factor for disease initiation, whereas its role in leukemia propagation and maintenance remains largely elusive. To address this issue we performed a shRNA-mediated knock-down (KD) of the E/R fusion gene and investigated the ensuing consequences on genome-wide gene expression patterns and deducible regulatory functions in two E/R-positive leukemic cell lines. Findings: Microarray analyses identified 777 genes whose expression was substantially altered. Although approximately equal proportions were either up- (KD-UP) or down-regulated (KD-DOWN), the effects on biological processes and pathways differed considerably. The E/R KD-DOWN set was significantly enriched for genes included in the cell activation, immune response, apoptosis, signal transduction and development and differentiation categories, whereas in the E/R KD-UP set only the PI3K/AKT/mTOR signaling and hematopoietic stem cells categories became evident. Comparable expression signatures obtained from primary E/R-positive ALL samples underline the relevance of these pathways and molecular functions. We also validated six differentially expressed genes representing the categories stem cell properties, B-cell differentiation, immune response, cell adhesion and DNA damage with RT-qPCR. Conclusion: The results of our analyses provide the first preliminary evidence that the continuous expression of the E/R fusion gene interferes with regular B-cell development by repressing key functions that are necessary under physiological circumstances. E/R may thus constitute also the essential driving force for the propagation and maintenance of the leukemic process irrespective of potential consequences of associated secondary changes. Finally, these findings may also provide a valuable source of potentially attractive therapeutic targets.

Dataset Information

Low Prevalence of ETV6::RUNX1 Fusion Gene in a Hispanic Population.

Publications

Low Prevalence of <i>ETV6::RUNX1</i> Fusion Gene in a Hispanic Population.

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