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

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 tum...

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Detalles Bibliográficos
Autores principales: van Kampen, Francoise S., Doornbos, Marianne E., van Rijn, Monique A., den Bever, Yolande
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5799647/
https://www.ncbi.nlm.nih.gov/pubmed/29445462
http://dx.doi.org/10.1002/ccr3.1312
Descripción
Sumario: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.

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