Choroid Plexus Carcinoma in an Adult: Genetic Insights from a Unique Case Study

Objective To investigate a rare adult case of choroid plexus carcinoma (CPC), with a focus on identifying genetic variations and their implications for prognosis and treatment selection. Methods The patient was diagnosed with Magnetic Resonance Imaging (MRI) imaging and histopathological features. Next-generation sequencing (NGS) was conducted to identify genetic aberrations. Expression of FGFR2 and FGF19/FGF3/FGF4/CCND1 (11q13 locus genes) identified in our case were further analyzed in two patient cohort from datasets. Statistical analysis assessed correlations between genetic expression and clinical outcomes. Results The amplification of FGFR2 and FGF19/FGF3/FGF4/CCND1, along with TP53 variant (L194P), were identified in our patient. The expression correlation between FGFR2 and 11q13 locus genes was validated in two patient cohorts, CPC and Glioblastoma Multiforme/Low-Grade Glioma (GBM/LGG). FGFR2-11q13 expression effectively stratified patients into distinct survival outcome groups in GBM/LGG cohorts. Discussion The described case contributes to the number of adult patients diagnosed with CPCs and reveals a novel genetic profile. The TP53-FGFR2-11q13 genetic pattern identified in this case holds promise as a prognostic indicator and a guide for medical decision-making in CPCs, and potentially in other brain tumors like GBM/LGG as well.