NOVEL ADJUVANT TARGETED APPROACH FOR PTEN MUTATED CHOROID PLEXUS CARCINOMA IN ADULTS: CASE REPORT AND LITERATURE REVIEW

Abstract

Abstract Choroid plexus carcinoma (CPC) is a malignant primary brain tumor that is extremely rare in adults. Previous literature has reported a median overall survival of 2.7 years among pediatric and adult cases. However, data regarding adult CPC's genomic profile by next-generation sequencing (NGS), pathogenesis, and adjuvant treatments after maximum safe resection and radiotherapy remains limited. CASE DESCRIPTION: A 53-year-old female was diagnosed with CPC and found with PTEN and PREX2 mutations by NGS. She underwent near total resection and craniospinal irradiation, followed by a novel mTOR-targeted chemotherapy with everolimus for 12 months. She has remained in remission with no evidence of tumor growth upon follow-up magnetic resonance imaging (MRI). There are notable MRI T2-fluid-attenuated inversion recovery (FLAIR) signal changes likely due to radiation effects. Currently, the patient is doing well with mild cognitive impairments and an overall survival of 5.2 years. DISCUSSION: Since PTEN and PREX2 are involved with the mTOR pathway, this case provides insight into the pathogenesis of adult CPC and evidence of a viable adjuvant treatment. Treatments such as stem cell transplants and ifosfamide, carboplatin, and etoposide chemotherapy have not shown to prevent recurrence. This is also the first study to calculate CPC's natural growth rate using MRI volumetric analysis with a 7.74% tumor growth in 51 days. Further studies are warranted in prospective clinical trials to assess everolimus' efficacy as an adjuvant therapy. NGS focusing on mTOR pathway abnormalities are also recommended to expand the present knowledge of this rare tumor.