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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Detalles Bibliográficos
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
Descripción
Sumario:[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.

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