ETV6-related thrombocytopenia and leukemia predisposition.
Blood
; 134(8): 663-667, 2019 08 22.
Article
en En
| MEDLINE
| ID: mdl-31248877
ABSTRACT
Germ line mutations in ETV6 are responsible for a familial thrombocytopenia and leukemia predisposition syndrome. Thrombocytopenia is almost completely penetrant and is usually mild. Leukemia is reported in â¼30% of carriers and is most often B-cell acute lymphoblastic leukemia. The mechanisms by which ETV6 dysfunction promotes thrombocytopenia and leukemia remain unclear. Care for individuals with ETV6-related thrombocytopenia and leukemia predisposition includes genetic counseling, treatment or prevention of excessive bleeding and surveillance for the development of hematologic malignancy.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Proteínas Represoras
/
Trombocitopenia
/
Leucemia
/
Mutación de Línea Germinal
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Proteínas Proto-Oncogénicas c-ets
Tipo de estudio:
Etiology_studies
Límite:
Humans
Idioma:
En
Año:
2019
Tipo del documento:
Article