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Alteration of the SETBP1 Gene and Splicing Pathway Genes SF3B1, U2AF1, and SRSF2 in Childhood Acute Myeloid Leukemia

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 investigate...

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Autores principales: Choi, Hyun-Woo, Kim, Hye-Ran, Baek, Hee-Jo, Kook, Hoon, Cho, Duck, Shin, Jong-Hee, Suh, Soon-Pal, Ryang, Dong-Wook, Shin, Myung-Geun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Laboratory Medicine 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4272941/
https://www.ncbi.nlm.nih.gov/pubmed/25553291
http://dx.doi.org/10.3343/alm.2015.35.1.118
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author Choi, Hyun-Woo
Kim, Hye-Ran
Baek, Hee-Jo
Kook, Hoon
Cho, Duck
Shin, Jong-Hee
Suh, Soon-Pal
Ryang, Dong-Wook
Shin, Myung-Geun
author_facet Choi, Hyun-Woo
Kim, Hye-Ran
Baek, Hee-Jo
Kook, Hoon
Cho, Duck
Shin, Jong-Hee
Suh, Soon-Pal
Ryang, Dong-Wook
Shin, Myung-Geun
author_sort Choi, Hyun-Woo
collection PubMed
description 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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spelling pubmed-42729412015-01-01 Alteration of the SETBP1 Gene and Splicing Pathway Genes SF3B1, U2AF1, and SRSF2 in Childhood Acute Myeloid Leukemia Choi, Hyun-Woo Kim, Hye-Ran Baek, Hee-Jo Kook, Hoon Cho, Duck Shin, Jong-Hee Suh, Soon-Pal Ryang, Dong-Wook Shin, Myung-Geun Ann Lab Med Original Article 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. The Korean Society for Laboratory Medicine 2015-01 2014-12-08 /pmc/articles/PMC4272941/ /pubmed/25553291 http://dx.doi.org/10.3343/alm.2015.35.1.118 Text en © The Korean Society for Laboratory Medicine. http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Choi, Hyun-Woo
Kim, Hye-Ran
Baek, Hee-Jo
Kook, Hoon
Cho, Duck
Shin, Jong-Hee
Suh, Soon-Pal
Ryang, Dong-Wook
Shin, Myung-Geun
Alteration of the SETBP1 Gene and Splicing Pathway Genes SF3B1, U2AF1, and SRSF2 in Childhood Acute Myeloid Leukemia
title Alteration of the SETBP1 Gene and Splicing Pathway Genes SF3B1, U2AF1, and SRSF2 in Childhood Acute Myeloid Leukemia
title_full Alteration of the SETBP1 Gene and Splicing Pathway Genes SF3B1, U2AF1, and SRSF2 in Childhood Acute Myeloid Leukemia
title_fullStr Alteration of the SETBP1 Gene and Splicing Pathway Genes SF3B1, U2AF1, and SRSF2 in Childhood Acute Myeloid Leukemia
title_full_unstemmed Alteration of the SETBP1 Gene and Splicing Pathway Genes SF3B1, U2AF1, and SRSF2 in Childhood Acute Myeloid Leukemia
title_short Alteration of the SETBP1 Gene and Splicing Pathway Genes SF3B1, U2AF1, and SRSF2 in Childhood Acute Myeloid Leukemia
title_sort alteration of the setbp1 gene and splicing pathway genes sf3b1, u2af1, and srsf2 in childhood acute myeloid leukemia
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4272941/
https://www.ncbi.nlm.nih.gov/pubmed/25553291
http://dx.doi.org/10.3343/alm.2015.35.1.118
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