Primary intracranial rhabdomyosarcoma: A systematic review of existing literature from 2000 to 2024

Abstract

Background and Objective: Primary Intracranial Rhabdomyosarcoma (PIRMS) represents a rare and poorly understood entity within brain tumours. The objective was to evaluate the clinicoradiological presentation and optimal management strategies for PIRMS.

Methodology: A comprehensive literature search was conducted in PubMed Central and Google Scholar from 2000 to 2024. Only English-language, open-access articles with confirmed human PIRMS cases were included. Quality was assessed using Joanna Briggs tools, and data synthesis followed PRISMA guidelines, registered with PROSPERO with registration number CRD42024507092. A total of 176 articles were screened, and finally, 27 were included, comprising data on 39 patients.

Result: About 22 (56.41%) patients were adults, and 17 (46.59%) were pediatric, with a male predominance of 23 cases (58.67%). Most patients (25) were Asians (64.1%). Headache, facial nerve palsy, and nausea/vomiting in 58.97% (23), 28.21% (11) and 25.64% (10) were the most common findings. Imaging showed ventriculomegaly and haemorrhage, in 10.26% (4) each on computed tomography, and hyperintensities on T1WI in 20 cases (51.28%). About 17.95% (7) of lesions were in the pineal region. Gross-total resection was performed in 15 cases (38.46%). On histopathology, rhabdomyoblasts and round cells were found in 25.64% (10) and 38.46% (15). The mean follow-up of 28 patients was 14.39±17.68 months.

Conclusion: Despite limitations, PIRMS remains difficult to diagnose preoperatively, with histopathology as the gold standard. Treatment response varies, but adjuvant chemoradiotherapy and gross total resection improve outcome.