ID #1198 Primary intracranial mesenchymal tumor with FET CREB mutation (PIMT-FETCREB)A systematic review of existing cases
Haseeb Mehmood Qadr, Faiqa Ijaz KhanAbstract
Background
Mesenchymal tumors (MT), originate from mesoderm and are frequently found in all parts of body except central nervous system (CNS). Their presentation in CNS is unusual.
Objective
To elaborately study the demographics, clinic-radiological presentation and management of PIMT-FETCREB along with their prognosis.
Methodology
A comprehensive literature search using Pub-Med and Google Scholar was conducted as per preferred reporting items for systematic review and meta-analysis (PRISMA), in time duration of 2000-2025 revealing 41 studies.
Results
Data of total 61 patients was included in this systematic review. In pediatric group (23) mean age was 11.34±2.91years and predominant gender was female 16(69.56%). There were of total 38 adult patients (age >15) with the mean age of 34.60±15.07 years and gender predilection towards female 23(60.52%). All tumors 61(100%) showed contrast enhancement on imaging. In both age groups, pediatrics 22(95.65%) and adults 9(76.31%), there was supratentorial predilection. All 61(100%) patients underwent excision. Gross total resection was achieved in 54(88.52%). Some patients were subjected to radiotherapy 14 (22.95%) and chemotherapy 9(14.75%). On histopathological examination cells were shaped spindle 25(40.98%), immersed in collagen-rich 24(39.34%) stroma. Immunohistochemistry predominantly shows EMA positivity in 54(88.52%). Molecular testing reveled fusion of FET gene, EWSR1 in 60(98.36%) fusion with CREB family gene, including CREB1 20(32.78%), ATF1 17(27.86%) and CREM1 16(26.225). Mean duration of follow up was 24.04±23.96 months. Alive patients without deficit were 50(81.96%).
Conclusion
PIMT-FETCREB is a newly emerging rare neoplastic entity affecting the CNS, with a number of combination of mutations from the FET::CREB family. Predominant in females, supratentorial renders gross total resection achievable in majority cases. The role of adjuvant therapy cannot be predicted based on the limited number of exposed cases. Survival of two years or more indicates favorable prognosis and a potential to combine multimodal management for future cases.