Mutation patterns of 16 genes in primary and secondary acute myeloid leukemia (AML) with normal cytogenetics.

Acute myeloid leukemia patients with normal cytogenetics (CN-AML) account for almost half of AML cases. We aimed to study the frequency and relationship of a wide range of genes previously reported as mutated in AML (ASXL1, NPM1, FLT3, TET2, IDH1/2, RUNX1, DNMT3A, NRAS, JAK2, WT1, CBL, SF3B1, TP53,...

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Autores principales:	Marta Fernandez-Mercado, Bon Ham Yip, Andrea Pellagatti, Carwyn Davies, María José Larrayoz, Toshinori Kondo, Cristina Pérez, Sally Killick, Emma-Jane McDonald, María Dolores Odero, Xabier Agirre, Felipe Prósper, María José Calasanz, James S Wainscoat, Jacqueline Boultwood
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2012
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/6cfaed15b9bf4c11b08ee7dfcacf1fde
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spelling	oai:doaj.org-article:6cfaed15b9bf4c11b08ee7dfcacf1fde2021-11-18T07:09:14ZMutation patterns of 16 genes in primary and secondary acute myeloid leukemia (AML) with normal cytogenetics.1932-620310.1371/journal.pone.0042334https://doaj.org/article/6cfaed15b9bf4c11b08ee7dfcacf1fde2012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22912701/?tool=EBIhttps://doaj.org/toc/1932-6203Acute myeloid leukemia patients with normal cytogenetics (CN-AML) account for almost half of AML cases. We aimed to study the frequency and relationship of a wide range of genes previously reported as mutated in AML (ASXL1, NPM1, FLT3, TET2, IDH1/2, RUNX1, DNMT3A, NRAS, JAK2, WT1, CBL, SF3B1, TP53, KRAS and MPL) in a series of 84 CN-AML cases. The most frequently mutated genes in primary cases were NPM1 (60.8%) and FLT3 (50.0%), and in secondary cases ASXL1 (48.5%) and TET2 (30.3%). We showed that 85% of CN-AML patients have mutations in at least one of ASXL1, NPM1, FLT3, TET2, IDH1/2 and/or RUNX1. Serial samples from 19 MDS/CMML cases that progressed to AML were analyzed for ASXL1/TET2/IDH1/2 mutations; seventeen cases presented mutations of at least one of these genes. However, there was no consistent pattern in mutation acquisition during disease progression. This report concerns the analysis of the largest number of gene mutations in CN-AML studied to date, and provides insight into the mutational profile of CN-AML.Marta Fernandez-MercadoBon Ham YipAndrea PellagattiCarwyn DaviesMaría José LarrayozToshinori KondoCristina PérezSally KillickEmma-Jane McDonaldMaría Dolores OderoXabier AgirreFelipe PrósperMaría José CalasanzJames S WainscoatJacqueline BoultwoodPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 8, p e42334 (2012)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Marta Fernandez-Mercado Bon Ham Yip Andrea Pellagatti Carwyn Davies María José Larrayoz Toshinori Kondo Cristina Pérez Sally Killick Emma-Jane McDonald María Dolores Odero Xabier Agirre Felipe Prósper María José Calasanz James S Wainscoat Jacqueline Boultwood Mutation patterns of 16 genes in primary and secondary acute myeloid leukemia (AML) with normal cytogenetics.
description	Acute myeloid leukemia patients with normal cytogenetics (CN-AML) account for almost half of AML cases. We aimed to study the frequency and relationship of a wide range of genes previously reported as mutated in AML (ASXL1, NPM1, FLT3, TET2, IDH1/2, RUNX1, DNMT3A, NRAS, JAK2, WT1, CBL, SF3B1, TP53, KRAS and MPL) in a series of 84 CN-AML cases. The most frequently mutated genes in primary cases were NPM1 (60.8%) and FLT3 (50.0%), and in secondary cases ASXL1 (48.5%) and TET2 (30.3%). We showed that 85% of CN-AML patients have mutations in at least one of ASXL1, NPM1, FLT3, TET2, IDH1/2 and/or RUNX1. Serial samples from 19 MDS/CMML cases that progressed to AML were analyzed for ASXL1/TET2/IDH1/2 mutations; seventeen cases presented mutations of at least one of these genes. However, there was no consistent pattern in mutation acquisition during disease progression. This report concerns the analysis of the largest number of gene mutations in CN-AML studied to date, and provides insight into the mutational profile of CN-AML.
format	article
author	Marta Fernandez-Mercado Bon Ham Yip Andrea Pellagatti Carwyn Davies María José Larrayoz Toshinori Kondo Cristina Pérez Sally Killick Emma-Jane McDonald María Dolores Odero Xabier Agirre Felipe Prósper María José Calasanz James S Wainscoat Jacqueline Boultwood
author_facet	Marta Fernandez-Mercado Bon Ham Yip Andrea Pellagatti Carwyn Davies María José Larrayoz Toshinori Kondo Cristina Pérez Sally Killick Emma-Jane McDonald María Dolores Odero Xabier Agirre Felipe Prósper María José Calasanz James S Wainscoat Jacqueline Boultwood
author_sort	Marta Fernandez-Mercado
title	Mutation patterns of 16 genes in primary and secondary acute myeloid leukemia (AML) with normal cytogenetics.
title_short	Mutation patterns of 16 genes in primary and secondary acute myeloid leukemia (AML) with normal cytogenetics.
title_full	Mutation patterns of 16 genes in primary and secondary acute myeloid leukemia (AML) with normal cytogenetics.
title_fullStr	Mutation patterns of 16 genes in primary and secondary acute myeloid leukemia (AML) with normal cytogenetics.
title_full_unstemmed	Mutation patterns of 16 genes in primary and secondary acute myeloid leukemia (AML) with normal cytogenetics.
title_sort	mutation patterns of 16 genes in primary and secondary acute myeloid leukemia (aml) with normal cytogenetics.
publisher	Public Library of Science (PLoS)
publishDate	2012
url	https://doaj.org/article/6cfaed15b9bf4c11b08ee7dfcacf1fde
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Mutation patterns of 16 genes in primary and secondary acute myeloid leukemia (AML) with normal cytogenetics.

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