Open AccessA low‐grade astrocytoma in a sixteen‐year‐old boy with a 7q11.22 deletion
Author(s) -
Kampen Francoise S.,
Doornbos Marianne E.,
Rijn Monique A.,
Bever Yolande
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1312
Subject(s) - carcinogenesis , medicine , astrocytoma , germline mutation , germline , pathogenesis , mutation , pathology , glioma , cancer research , genetics , cancer , biology , gene
Key Clinical Message 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.