Germline PTPN13 mutations in patients with bone marrow failure and acute lymphoblastic leukemia

[EN]Acute lymphoblastic leukemia (ALL) is generally considered an acquired disorder and very few cases have been reported to be associated with germline mutations in PAX5, ETV6, and IKZF1 [1,2,3]. ALL has been observed in rare of inherited bone marrow failure sydnromes (IBMFSs) such as Fanocni anemi...

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Autores: Moshiri, Houtan, Cabrera Riofrío, David A, Lim, Yeon Jung, Lauhasurayotin, Supanun, Manisterski, Michal, Elhasid, Ronit, Bonilla, Francisco A, Dhanraj, Santhosh, Armstrong, Richard N, Li, Hongbing, Scherer, Stephen W, Hernández Hernández, Ángel, Dror, Yigal
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2022
País:España
Institución:Universidad de Salamanca (USAL)
Repositorio:GREDOS. Repositorio Institucional de la Universidad de Salamanca
OAI Identifier:oai:gredos.usal.es:10366/155175
Acceso en línea:http://hdl.handle.net/10366/155175
Access Level:acceso embargado
Palabra clave:Leukemia
Germ-Line Mutation
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Humans
Germ Cells
leucemia-linfoma linfoblástico de células precursoras
mutación de la línea germinal
humanos
células germinativas
id ES_74fe3dac4e56467a56eee75be5d6499a
oai_identifier_str oai:gredos.usal.es:10366/155175
network_acronym_str ES
network_name_str España
repository_id_str
spelling Germline PTPN13 mutations in patients with bone marrow failure and acute lymphoblastic leukemiaMoshiri, HoutanCabrera Riofrío, David ALim, Yeon JungLauhasurayotin, SupanunManisterski, MichalElhasid, RonitBonilla, Francisco ADhanraj, SanthoshArmstrong, Richard NLi, HongbingScherer, Stephen WHernández Hernández, ÁngelDror, YigalLeukemiaGerm-Line MutationPrecursor Cell Lymphoblastic Leukemia-LymphomaHumansGerm Cellsleucemia-linfoma linfoblástico de células precursorasmutación de la línea germinalhumanoscélulas germinativas[EN]Acute lymphoblastic leukemia (ALL) is generally considered an acquired disorder and very few cases have been reported to be associated with germline mutations in PAX5, ETV6, and IKZF1 [1,2,3]. ALL has been observed in rare of inherited bone marrow failure sydnromes (IBMFSs) such as Fanocni anemia [4] and Shwachman-Diamond syndrome [5]. Identifying inherited causes of ALL may be critically important for selecting suitable therapeutic treatments, as applicable to conditions such as Fanoni anemia and ataxia telengeictasia which feature an increased sensitivity to ionizing radiation and chemotherapy.Springer Natureinfo202420242022info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://hdl.handle.net/10366/155175reponame:GREDOS. Repositorio Institucional de la Universidad de Salamancainstname:Universidad de Salamanca (USAL)Inglésinfo:eu-repo/semantics/embargoedAccessoai:gredos.usal.es:10366/1551752026-06-07T06:28:51Z
dc.title.none.fl_str_mv Germline PTPN13 mutations in patients with bone marrow failure and acute lymphoblastic leukemia
title Germline PTPN13 mutations in patients with bone marrow failure and acute lymphoblastic leukemia
spellingShingle Germline PTPN13 mutations in patients with bone marrow failure and acute lymphoblastic leukemia
Moshiri, Houtan
Leukemia
Germ-Line Mutation
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Humans
Germ Cells
leucemia-linfoma linfoblástico de células precursoras
mutación de la línea germinal
humanos
células germinativas
title_short Germline PTPN13 mutations in patients with bone marrow failure and acute lymphoblastic leukemia
title_full Germline PTPN13 mutations in patients with bone marrow failure and acute lymphoblastic leukemia
title_fullStr Germline PTPN13 mutations in patients with bone marrow failure and acute lymphoblastic leukemia
title_full_unstemmed Germline PTPN13 mutations in patients with bone marrow failure and acute lymphoblastic leukemia
title_sort Germline PTPN13 mutations in patients with bone marrow failure and acute lymphoblastic leukemia
dc.creator.none.fl_str_mv Moshiri, Houtan
Cabrera Riofrío, David A
Lim, Yeon Jung
Lauhasurayotin, Supanun
Manisterski, Michal
Elhasid, Ronit
Bonilla, Francisco A
Dhanraj, Santhosh
Armstrong, Richard N
Li, Hongbing
Scherer, Stephen W
Hernández Hernández, Ángel
Dror, Yigal
author Moshiri, Houtan
author_facet Moshiri, Houtan
Cabrera Riofrío, David A
Lim, Yeon Jung
Lauhasurayotin, Supanun
Manisterski, Michal
Elhasid, Ronit
Bonilla, Francisco A
Dhanraj, Santhosh
Armstrong, Richard N
Li, Hongbing
Scherer, Stephen W
Hernández Hernández, Ángel
Dror, Yigal
author_role author
author2 Cabrera Riofrío, David A
Lim, Yeon Jung
Lauhasurayotin, Supanun
Manisterski, Michal
Elhasid, Ronit
Bonilla, Francisco A
Dhanraj, Santhosh
Armstrong, Richard N
Li, Hongbing
Scherer, Stephen W
Hernández Hernández, Ángel
Dror, Yigal
author2_role author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Leukemia
Germ-Line Mutation
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Humans
Germ Cells
leucemia-linfoma linfoblástico de células precursoras
mutación de la línea germinal
humanos
células germinativas
topic Leukemia
Germ-Line Mutation
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Humans
Germ Cells
leucemia-linfoma linfoblástico de células precursoras
mutación de la línea germinal
humanos
células germinativas
description [EN]Acute lymphoblastic leukemia (ALL) is generally considered an acquired disorder and very few cases have been reported to be associated with germline mutations in PAX5, ETV6, and IKZF1 [1,2,3]. ALL has been observed in rare of inherited bone marrow failure sydnromes (IBMFSs) such as Fanocni anemia [4] and Shwachman-Diamond syndrome [5]. Identifying inherited causes of ALL may be critically important for selecting suitable therapeutic treatments, as applicable to conditions such as Fanoni anemia and ataxia telengeictasia which feature an increased sensitivity to ionizing radiation and chemotherapy.
publishDate 2022
dc.date.none.fl_str_mv 2022
2024
2024
info
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10366/155175
url http://hdl.handle.net/10366/155175
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/embargoedAccess
eu_rights_str_mv embargoedAccess
dc.publisher.none.fl_str_mv Springer Nature
publisher.none.fl_str_mv Springer Nature
dc.source.none.fl_str_mv reponame:GREDOS. Repositorio Institucional de la Universidad de Salamanca
instname:Universidad de Salamanca (USAL)
instname_str Universidad de Salamanca (USAL)
reponame_str GREDOS. Repositorio Institucional de la Universidad de Salamanca
collection GREDOS. Repositorio Institucional de la Universidad de Salamanca
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869410948986437632
score 15.300719

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