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Alteration of the SETBP1 Gene and Splicing Pathway Genes SF3B1, U2AF1, and SRSF2 in Childhood Acute Myeloid Leukemia
Article en En | WPRIM | ID: wpr-64361
Biblioteca responsable: WPRO
ABSTRACT
BACKGROUND: Recurrent somatic SET-binding protein 1 (SETBP1) and splicing pathway gene mutations have recently been found in atypical chronic myeloid leukemia and other hematologic malignancies. These mutations have been comprehensively analyzed in adult AML, but not in childhood AML. We investigated possible alteration of the SETBP1, splicing factor 3B subunit 1 (SF3B1), U2 small nuclear RNA auxiliary factor 1 (U2AF1), and serine/arginine-rich splicing factor 2 (SRSF2) genes in childhood AML. METHODS: Cytogenetic and molecular analyses were performed to reveal chromosomal and genetic alterations. Sequence alterations in the SETBP1, SF3B1, U2AF1, and SRSF2 genes were examined by using direct sequencing in a cohort of 53 childhood AML patients. RESULTS: Childhood AML patients did not harbor any recurrent SETBP1 gene mutations, although our study did identify a synonymous mutation in one patient. None of the previously reported aberrations in the mutational hotspot of SF3B1, U2AF1, and SRSF2 were identified in any of the 53 patients. CONCLUSIONS: Alterations of the SETBP1 gene or SF3B1, U2AF1, and SRSF2 genes are not common genetic events in childhood AML, implying that the mutations are unlikely to exert a driver effect in myeloid leukemogenesis during childhood.
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Texto completo: 1 Índice: WPRIM Asunto principal: Fosfoproteínas / Ribonucleoproteínas / Análisis Mutacional de ADN / Proteínas Nucleares / Leucemia Mieloide Aguda / Proteínas Portadoras / Empalme del ARN / Estudios de Cohortes / Ribonucleoproteína Nuclear Pequeña U2 / Análisis Citogenético Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Annals of Laboratory Medicine Año: 2015 Tipo del documento: Article
Texto completo: 1 Índice: WPRIM Asunto principal: Fosfoproteínas / Ribonucleoproteínas / Análisis Mutacional de ADN / Proteínas Nucleares / Leucemia Mieloide Aguda / Proteínas Portadoras / Empalme del ARN / Estudios de Cohortes / Ribonucleoproteína Nuclear Pequeña U2 / Análisis Citogenético Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Annals of Laboratory Medicine Año: 2015 Tipo del documento: Article