Mutation patterns of 16 genes in primary and secondary acute myeloid leukemia (AML) with normal cytogenetics
Abstract 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, SF3B...
| Authors: | , , , , , , , , , , , , , , |
|---|---|
| Format: | article |
| Publication Date: | 2012 |
| Country: | España |
| Institution: | Universidad de Navarra |
| Repository: | Dadun. Depósito Académico Digital de la Universidad de Navarra |
| Language: | English |
| OAI Identifier: | oai:dadun.unav.edu:10171/41454 |
| Online Access: | https://hdl.handle.net/10171/41454 |
| Access Level: | Open access |
| Keyword: | Mutation Acute Myeloid Leukemia Normal Cytogenetics |
| id |
ES_3f7b424a216eab430b2ccc6508bb8521 |
|---|---|
| oai_identifier_str |
oai:dadun.unav.edu:10171/41454 |
| network_acronym_str |
ES |
| network_name_str |
España |
| repository_id_str |
|
| spelling |
Mutation patterns of 16 genes in primary and secondary acute myeloid leukemia (AML) with normal cytogeneticsBoultwood, J. (Jacqueline)|||/items/4e3a6660-3a20-426e-aba2-94bdbb24b6e8Wainscoat, J.S. (James S.)|||/items/2c893d2c-7d50-4f21-9b29-728dcc2fa011Calasanz-Abinzano, M.J. (Maria Jose)|||/items/a1f10f5c-06ce-47eb-bfd8-91fb972d8086Prosper-Cardoso, F. (Felipe)|||/items/3d1b0b82-06c3-4e63-8280-e903dc4dc0c1Aguirre-Ena, X. (Xabier)|||/items/2a000d9c-cb5c-4734-a32c-4fef79998c86Odero, M.D. (Maria Dolores)|||/items/6679bbec-f7dd-480c-a44c-44d7c8493251McDonald, E.J. (Emma Jane)|||/items/ec0504d2-270e-400a-b9e1-29ca0786f4adKillick, S. (Sally)|||/items/c07eb5b9-2a68-430e-bb08-d9d303598e92Perez, C. (Cristina)|||/items/290e09cd-b084-4cdd-b63e-84762b2d923fKondo, T. (Toshinori)|||/items/c7a125af-b58d-42f7-8914-38a5f3062e84Larrayoz-Ilundáin, M.J. (María José)|||/items/7e29cbb9-798d-4830-bfcf-729a99e05d02Davies, C. (Carwyn)|||/items/c1de2fdf-b499-47ae-a9e1-a21ffd0bb595Pellagatti, A. (Andrea)|||/items/a8dd726b-6248-4850-9885-ea609811ceb9Yip, B.H. (Bon Ham)|||/items/33607d98-632a-4d9b-8863-a9380a676ebbFernandez-Mercado, M. (Marta)|||/items/9919a3c8-2c8c-4d98-9b5b-57864191c2bcMutationAcute Myeloid LeukemiaNormal CytogeneticsAbstract 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-AMLDadun. Depósito Académico Digital Universidad de Navarra20162016-08-1220122012-01-0120122012-01-01journal articlehttp://purl.org/coar/resource_type/c_6501info:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/10171/41454reponame:Dadun. Depósito Académico Digital de la Universidad de Navarrainstname:Universidad de NavarraInglésengopen accesshttp://purl.org/coar/access_right/c_abf2info:eu-repo/semantics/openAccessoai:dadun.unav.edu:10171/414542026-06-21T12:47:57Z |
| dc.title.none.fl_str_mv |
Mutation patterns of 16 genes in primary and secondary acute myeloid leukemia (AML) with normal cytogenetics |
| title |
Mutation patterns of 16 genes in primary and secondary acute myeloid leukemia (AML) with normal cytogenetics |
| spellingShingle |
Mutation patterns of 16 genes in primary and secondary acute myeloid leukemia (AML) with normal cytogenetics Boultwood, J. (Jacqueline)|||/items/4e3a6660-3a20-426e-aba2-94bdbb24b6e8 Mutation Acute Myeloid Leukemia 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 |
| dc.creator.none.fl_str_mv |
Boultwood, J. (Jacqueline)|||/items/4e3a6660-3a20-426e-aba2-94bdbb24b6e8 Wainscoat, J.S. (James S.)|||/items/2c893d2c-7d50-4f21-9b29-728dcc2fa011 Calasanz-Abinzano, M.J. (Maria Jose)|||/items/a1f10f5c-06ce-47eb-bfd8-91fb972d8086 Prosper-Cardoso, F. (Felipe)|||/items/3d1b0b82-06c3-4e63-8280-e903dc4dc0c1 Aguirre-Ena, X. (Xabier)|||/items/2a000d9c-cb5c-4734-a32c-4fef79998c86 Odero, M.D. (Maria Dolores)|||/items/6679bbec-f7dd-480c-a44c-44d7c8493251 McDonald, E.J. (Emma Jane)|||/items/ec0504d2-270e-400a-b9e1-29ca0786f4ad Killick, S. (Sally)|||/items/c07eb5b9-2a68-430e-bb08-d9d303598e92 Perez, C. (Cristina)|||/items/290e09cd-b084-4cdd-b63e-84762b2d923f Kondo, T. (Toshinori)|||/items/c7a125af-b58d-42f7-8914-38a5f3062e84 Larrayoz-Ilundáin, M.J. (María José)|||/items/7e29cbb9-798d-4830-bfcf-729a99e05d02 Davies, C. (Carwyn)|||/items/c1de2fdf-b499-47ae-a9e1-a21ffd0bb595 Pellagatti, A. (Andrea)|||/items/a8dd726b-6248-4850-9885-ea609811ceb9 Yip, B.H. (Bon Ham)|||/items/33607d98-632a-4d9b-8863-a9380a676ebb Fernandez-Mercado, M. (Marta)|||/items/9919a3c8-2c8c-4d98-9b5b-57864191c2bc |
| author |
Boultwood, J. (Jacqueline)|||/items/4e3a6660-3a20-426e-aba2-94bdbb24b6e8 |
| author_facet |
Boultwood, J. (Jacqueline)|||/items/4e3a6660-3a20-426e-aba2-94bdbb24b6e8 Wainscoat, J.S. (James S.)|||/items/2c893d2c-7d50-4f21-9b29-728dcc2fa011 Calasanz-Abinzano, M.J. (Maria Jose)|||/items/a1f10f5c-06ce-47eb-bfd8-91fb972d8086 Prosper-Cardoso, F. (Felipe)|||/items/3d1b0b82-06c3-4e63-8280-e903dc4dc0c1 Aguirre-Ena, X. (Xabier)|||/items/2a000d9c-cb5c-4734-a32c-4fef79998c86 Odero, M.D. (Maria Dolores)|||/items/6679bbec-f7dd-480c-a44c-44d7c8493251 McDonald, E.J. (Emma Jane)|||/items/ec0504d2-270e-400a-b9e1-29ca0786f4ad Killick, S. (Sally)|||/items/c07eb5b9-2a68-430e-bb08-d9d303598e92 Perez, C. (Cristina)|||/items/290e09cd-b084-4cdd-b63e-84762b2d923f Kondo, T. (Toshinori)|||/items/c7a125af-b58d-42f7-8914-38a5f3062e84 Larrayoz-Ilundáin, M.J. (María José)|||/items/7e29cbb9-798d-4830-bfcf-729a99e05d02 Davies, C. (Carwyn)|||/items/c1de2fdf-b499-47ae-a9e1-a21ffd0bb595 Pellagatti, A. (Andrea)|||/items/a8dd726b-6248-4850-9885-ea609811ceb9 Yip, B.H. (Bon Ham)|||/items/33607d98-632a-4d9b-8863-a9380a676ebb Fernandez-Mercado, M. (Marta)|||/items/9919a3c8-2c8c-4d98-9b5b-57864191c2bc |
| author_role |
author |
| author2 |
Wainscoat, J.S. (James S.)|||/items/2c893d2c-7d50-4f21-9b29-728dcc2fa011 Calasanz-Abinzano, M.J. (Maria Jose)|||/items/a1f10f5c-06ce-47eb-bfd8-91fb972d8086 Prosper-Cardoso, F. (Felipe)|||/items/3d1b0b82-06c3-4e63-8280-e903dc4dc0c1 Aguirre-Ena, X. (Xabier)|||/items/2a000d9c-cb5c-4734-a32c-4fef79998c86 Odero, M.D. (Maria Dolores)|||/items/6679bbec-f7dd-480c-a44c-44d7c8493251 McDonald, E.J. (Emma Jane)|||/items/ec0504d2-270e-400a-b9e1-29ca0786f4ad Killick, S. (Sally)|||/items/c07eb5b9-2a68-430e-bb08-d9d303598e92 Perez, C. (Cristina)|||/items/290e09cd-b084-4cdd-b63e-84762b2d923f Kondo, T. (Toshinori)|||/items/c7a125af-b58d-42f7-8914-38a5f3062e84 Larrayoz-Ilundáin, M.J. (María José)|||/items/7e29cbb9-798d-4830-bfcf-729a99e05d02 Davies, C. (Carwyn)|||/items/c1de2fdf-b499-47ae-a9e1-a21ffd0bb595 Pellagatti, A. (Andrea)|||/items/a8dd726b-6248-4850-9885-ea609811ceb9 Yip, B.H. (Bon Ham)|||/items/33607d98-632a-4d9b-8863-a9380a676ebb Fernandez-Mercado, M. (Marta)|||/items/9919a3c8-2c8c-4d98-9b5b-57864191c2bc |
| author2_role |
author author author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
Dadun. Depósito Académico Digital Universidad de Navarra |
| dc.subject.none.fl_str_mv |
Mutation Acute Myeloid Leukemia Normal Cytogenetics |
| topic |
Mutation Acute Myeloid Leukemia Normal Cytogenetics |
| description |
Abstract 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 |
| publishDate |
2012 |
| dc.date.none.fl_str_mv |
2012 2012-01-01 2012 2012-01-01 2016 2016-08-12 |
| dc.type.none.fl_str_mv |
journal article http://purl.org/coar/resource_type/c_6501 |
| dc.type.openaire.fl_str_mv |
info:eu-repo/semantics/article |
| format |
article |
| dc.identifier.none.fl_str_mv |
https://hdl.handle.net/10171/41454 |
| url |
https://hdl.handle.net/10171/41454 |
| dc.language.none.fl_str_mv |
Inglés eng |
| language_invalid_str_mv |
Inglés |
| language |
eng |
| dc.rights.none.fl_str_mv |
open access http://purl.org/coar/access_right/c_abf2 |
| dc.rights.openaire.fl_str_mv |
info:eu-repo/semantics/openAccess |
| rights_invalid_str_mv |
open access http://purl.org/coar/access_right/c_abf2 |
| eu_rights_str_mv |
openAccess |
| dc.format.none.fl_str_mv |
application/pdf |
| dc.source.none.fl_str_mv |
reponame:Dadun. Depósito Académico Digital de la Universidad de Navarra instname:Universidad de Navarra |
| instname_str |
Universidad de Navarra |
| reponame_str |
Dadun. Depósito Académico Digital de la Universidad de Navarra |
| collection |
Dadun. Depósito Académico Digital de la Universidad de Navarra |
| repository.name.fl_str_mv |
|
| repository.mail.fl_str_mv |
|
| _version_ |
1869406635816910848 |
| score |
15,300724 |