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

Mata-Rocha, Minerva; Rangel-López, Angélica; Jiménez‐Hernández, Elva; Núñez-Enríquez, Juan Carlos; Morales-Castillo, Blanca Angélica; Sánchez-Escobar, Norberto; Sepúlveda-Robles, Omar Alejandro; Bravata-Alcantará, Juan Carlos; Nájera-Cortés, Alan Steve; Pérez-Saldivar, María Luisa; Flores-Lujano, Janet; Duarte-Rodríguez, David Aldebarán; Oviedo, Norma; Tlalolini, Maria de los Angeles Romero; Verson, Carmen Alaez; Martín-Trejo, Jorge Alfonso; Medina, José Esteban Muñoz; González-Bonilla, César; Cueto, Maria de los Angeles Hernandez; Bekker-Méndez, Carolina; Jiménez-Morales, Silvia; Medina-Sansón, Aurora; Amador-Sánchez, Raquel; Peñaloza-González, José Gabriel; Torres-Nava, José Refugio; Espinosa-Elizondo, Rosa Martha; Cortés-Herrera, Beatriz; Flores-Villegas, Luz Victoria; Merino-Pasaye, Laura Elizabeth; Gutiérrez-Rivera, María de Lourdes; Velázquez-Aviña, Martha Margarita; Santillán-Juárez, Jessica Denisse; Gurrola-Silva, Alma; Echáurregui, Gabriela Alicia Hernández; Hidalgo‐Miranda, Alfredo; Galindo, José Arellano; Rosas-Vargas, Haydeé; Mejı́a-Aranguré, Juan Manuel

doi:10.3389/fped.2022.837656

Cited by 3 publications

(3 citation statements)

References 37 publications

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“…Our finding could be due to the fact that at the beginning of the study not all participating hospitals sent the leukemia patients' samples for analysis. This assumption is supported by a recent study of our research group where this gene rearrangement was found in 7.5% of ALL pediatric cases such as it has been previously reported (42). In addition, the prevalence of the other gene rearrangements that were analyzed in the present research were similar to the reported in MC and worldwide (1-3%) (42).…”

Section: Frequency Of All By Gene Rearrangementssupporting

confidence: 91%

“…These frequencies are similar to those found in other Hispanic populations ( 24 , 25 , 27 – 29 ), and those reported worldwide ( 13 , 20 , 23 – 25 , 27 – 41 ). One important and recurrent finding in the Mexican population with childhood ALL is the low frequency of ETV6-RUNX1 , a gene rearrangement associated with a good prognosis of the disease ( 42 ). Internationally, the prevailing assumption was that these gene rearrangements were the most important ones, which played an important role in the clinic (diagnosis, risk stratification and chemotherapy treatment).…”

Section: Introductionmentioning

confidence: 99%

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Persistently high incidence rates of childhood acute leukemias from 2010 to 2017 in Mexico City: A population study from the MIGICCL

Flores-Lujano

Duarte-Rodríguez

Jiménez‐Hernández

et al. 2022

Front. Public Health

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IntroductionOver the years, the Hispanic population living in the United States has consistently shown high incidence rates of childhood acute leukemias (AL). Similarly, high AL incidence was previously observed in Mexico City (MC). Here, we estimated the AL incidence rates among children under 15 years of age in MC during the period 2010–2017.MethodsThe Mexican Interinstitutional Group for the Identification of the Causes of Childhood Leukemia conducted a study gathering clinical and epidemiological information regarding children newly diagnosed with AL at public health institutions of MC. Crude age incidence rates (cAIR) were obtained. Age-standardized incidence rates worldwide (ASIRw) and by municipalities (ASIRm) were calculated by the direct and indirect methods, respectively. These were reported per million population <15 years of age; stratified by age group, sex, AL subtypes, immunophenotype and gene rearrangements.ResultsA total of 903 AL cases were registered. The ASIRw was 63.3 (cases per million) for AL, 53.1 for acute lymphoblastic leukemia (ALL), and 9.4 for acute myeloblastic leukemia. The highest cAIR for AL was observed in the age group between 1 and 4 years (male: 102.34 and female: 82.73). By immunophenotype, the ASIRw was 47.3 for B-cell and 3.7 for T-cell. The incidence did not show any significant trends during the study period. The ASIRm for ALL were 68.6, 66.6 and 62.8 at Iztacalco, Venustiano Carranza and Benito Juárez, respectively, whereas, other municipalities exhibited null values mainly for AML.ConclusionThe ASIRw for childhood AL in MC is among the highest reported worldwide. We observed spatial heterogeneity of rates by municipalities. The elevated AL incidence observed in Mexican children may be explained by a combination of genetic background and exposure to environmental risk factors.

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Section: Frequency Of All By Gene Rearrangementssupporting

confidence: 91%

Section: Introductionmentioning

confidence: 99%

Persistently high incidence rates of childhood acute leukemias from 2010 to 2017 in Mexico City: A population study from the MIGICCL

Flores-Lujano

Duarte-Rodríguez

Jiménez‐Hernández

et al. 2022

Front. Public Health

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“…This means that in Mexicans, ETV6-RUNX1 , associated with standard prognosis, is reduced, and rearrangements of CRLF2 and iAMP21 , which confer high risk, are widely represented among Mexican patients. Most of these findings have been replicated and confirmed by other groups in Mexico ( Table 1 ) ( 31 , 32 ), although they must be compared to data from other regions in our country.…”

Section: Epidemiological Considerations In Pediatric Allsupporting

confidence: 79%

Triple-hit explanation for the worse prognosis of pediatric acute lymphoblastic leukemia among Mexican and Hispanic children

Rivera-Luna

Pérez-Vera

Galvan-Diaz³

et al. 2022

Front. Oncol.

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Acute lymphoblastic leukemia (ALL) is the most common malignancy among Mexican and Hispanic children and the first cause of death by disease in Mexico. We propose a “triple-hit” explanation for the survival gap affecting this population. The first hit can be attributed to epidemiology and social, cultural, and economic burdens. The second hit refers to cancer biology, with a high incidence of unfavorable genetic characteristics associated with an unfavorable response to treatment and, subsequently, poor survival. Finally, the third hit relates to sub-optimal treatment and support. Society and culture, leukemia biology, and treatment approach limitations are key factors that should not be seen apart and must be considered comprehensively in any strategy to improve the prognosis of Mexican and Hispanic children with ALL.

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The Landscape of Secondary Genetic Rearrangements in Pediatric Patients with B-Cell Acute Lymphoblastic Leukemia with t(12;21)

Kaczmarska

Derebas

Pinkosz

et al. 2023

Cells

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The most frequent chromosomal rearrangement in childhood B-cell acute lymphoblastic leukemia (B-ALL) is translocation t(12;21)(p13;q22). It results in the fusion of the ETV6::RUNX1 gene, which is active in the regulation of multiple crucial cellular pathways. Recent studies hypothesize that many translocations are influenced by RAG-initiated deletions, as well as defects in the RAS and NRAS pathways. According to a “two-hit” model for the molecular pathogenesis of pediatric ETV6::RUNX1-positive B-ALL, the t(12;21) translocation requires leukemia-causing secondary mutations. Patients with ETV6::RUNX1 express up to 60 different aberrations, which highlights the heterogeneity of this B-ALL subtype and is reflected in differences in patient response to treatment and chances of relapse. Most studies of secondary genetic changes have concentrated on deletions of the normal, non-rearranged ETV6 allele. Other predominant structural changes included deletions of chromosomes 6q and 9p, loss of entire chromosomes X, 8, and 13, duplications of chromosome 4q, or trisomy of chromosomes 21 and 16, but the impact of these changes on overall survival remains unclarified. An equally genetically diverse group is the recently identified new B-ALL subtype ETV6::RUNX1-like ALL. In our review, we provide a comprehensive description of recurrent secondary mutations in pediatric B-ALL with t(12;21) to emphasize the value of investigating detailed molecular mechanisms in ETV6::RUNX1-positive B-ALL, both for our understanding of the etiology of the disease and for future clinical advances in patient treatment and management.

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

Cited by 3 publications

References 37 publications

Persistently high incidence rates of childhood acute leukemias from 2010 to 2017 in Mexico City: A population study from the MIGICCL

Persistently high incidence rates of childhood acute leukemias from 2010 to 2017 in Mexico City: A population study from the MIGICCL

Triple-hit explanation for the worse prognosis of pediatric acute lymphoblastic leukemia among Mexican and Hispanic children

The Landscape of Secondary Genetic Rearrangements in Pediatric Patients with B-Cell Acute Lymphoblastic Leukemia with t(12;21)

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