Novel Adjuvant Targeted Approach for PTEN-Mutated Choroid Plexus Carcinoma in Adults: Case Report and Literature Review

Choroid plexus carcinoma (CPC) is a rare CNS WHO grade 3 malignant primary brain tumor that arises from the choroid plexus epithelium. CPC primarily occurs in children and is extremely rare in adults.(1) A report of 452 pediatric and adult CPCs from 1989 to 2013 showed a median overall survival of 2.7 years.(2) Pediatric CPCs have been linked to Li-Fraumeni Syndrome with TP53 germline mutations, which is associated with a poorer prognosis and 5-year survival rate (0% for TP53-immunopositive v 82% for TP53-immunonegative).(3,4) However, data regarding CPC's genomic profiles and the role of adjuvant-targeted therapy in adults remain limited. This study presents a 53-year-old woman living with CPC for 5 years who was diagnosed after craniotomy with near total resection (NTR), followed by craniospinal irradiation and a novel targeted therapy on the basis of next-generation sequencing (NGS) results.