Dysplastic cerebellar gangliocytoma: a six-decade study.

Abstract

Introduction: Dysplastic cerebellar gangliocytoma (DCG) is a rare cerebellar tumor glioneuronal and neuronal tumor with phosphatase and tensin homolog (PTEN) identified as a key altered gene. The aim of this study is to establish DCG diagnostic and outcome trends over a six-decade and present cases from our institution.

Evidence acquisition: A literature review of online databases was performed using relevant terms (January 1970-October 2024). Our institution pathology database was queried for patients with DCG (2000-2024). Data was extracted and dichotomized in adult and pediatric cases.

Evidence synthesis: We report three new DCG cases in addition to the 170 DCG cases reported across 97 articles over seven decades, with 52% of articles published since 2010. DCG predominantly occurred in adults (>18 years, 82%), women (59%), at mean age 9.0±6.3 years and 38.1±13.7 years in pediatric and adult patients, respectively. Balance/coordination deficit, headache and visual deficit were the most common presenting symptoms. MRI "tiger-stripe" pattern was present in 67%. Surgical resection was the treatment of choice for >97% of patients. Association with Cowden Syndrome (CS) was confirmed in 67% of patients. PTEN mutations identified in 48.3% of cases, primarily affecting chromosome 10 (10q23.3). Progression-free survival was experienced by 74% of patients and reoperation for progression needed in 3.5% of cases.

Conclusions: DCG is a rare tumor associated with PTEN mutations. MRI aids in diagnosis and surgery ensures favorable outcomes. Standardized genetic screening and targeted therapies require further study, as they hold promise for refining diagnosis and long-term management.