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Widely metastatic glioblastoma with BRCA1 and ARID1A mutations: a case report.

Melissa UmphlettStephanie SheaJessica Tome-GarciaYizhou ZhangAdilia HormigoMary FowkesNadejda M TsankovaRaymund L Yong
Published in: BMC cancer (2020)
This case report examines a rare case of widely metastatic IDH-wildtype GBM with a clonal somatic mutation in BRCA1. Post-treatment recurrent tumor in the brain and in multiple systemic organs exhibited evidence of acquired DNA mismatch repair deficiency, which may be explained by functional loss of ARID1A. We identify a potential role for immune checkpoint and PARP inhibitors in the treatment of metastatic GBM.
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