A low-grade astrocytoma in a sixteen-year-old boy with a 7q11.22 deletion.

van Kampen, Francoise S; Doornbos, Marianne E; van Rijn, Monique A; den Bever, Yolande

van Kampen, Francoise S; Doornbos, Marianne E; van Rijn, Monique A; den Bever, Yolande.

Afiliación

van Kampen FS; Department of Paediatrics Albert Schweitzer Hospital Dordrecht The Netherlands.
Doornbos ME; Department of Paediatrics Albert Schweitzer Hospital Dordrecht The Netherlands.
van Rijn MA; Department of Neurology Albert Schweitzer Hospital Dordrecht The Netherlands.
den Bever Y; Department of Clinical Genetics Erasmus University Hospital Rotterdam The Netherlands.

Clin Case Rep ; 6(2): 274-277, 2018 02.

Article en En | MEDLINE | ID: mdl-29445462

ABSTRACT

ABSTRACT

We report a patient with developmental delay due to germline AUTS2 mutation who developed a low-grade astrocytoma. While the contribution of this mutation to the pathogenesis of the tumor is not known at this time, a role of AUTS2 in deregulation of PRC1 can be a part in tumorigenesis of a brain tumor.

Palabras clave

AUTS2; brain tumor; neurologic; pediatric

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Clin Case Rep Año: 2018 Tipo del documento: Article