Molecular features in gangliogliomas: a systematic review

TL;DR

This study reviews genetic mutations in gangliogliomas, finding that BRAFV600E is the most common mutation among several rare ones.

Contribution

The study systematically identifies and quantifies the prevalence of somatic mutations in gangliogliomas using Medline data.

Findings

BRAFV600E was the most common mutation, found in 36.94% of cases.

Mutations in FGFR1, H3K27M, KRAS, IDH1, and RAF1 were rare, with FGFR1 at 1.18%.

A total of 1360 ganglioglioma cases were analyzed across 43 studies.

Abstract

In the present study, a systematic revision in the Medline was conducted to determine the somatic mutation in gangliogliomas.

A Medline search for relevant publications up to October 2024 using the key phrase “ganglioglioma mutation” led to the retrieval of 297 studies. This corpus provided the basis for the present review. The records without abstract or descriptions of somatic mutations were excluded. Only records in the English language were considered.

A total of 43 papers were evaluated, reporting a total of 1360 cases of ganglioglioma. Among them, 528 cases presented mutations in 6 genes: BRAFV600E, FGFR1, H3K27M, KRAS, IDH1, and RAF1. The most common mutation was BRAFV600E present in 36.94%, followed by the mutation in FGFR1, reported in 1.18% of cases.

BRAFV600E mutation was the most common alteration observed in gangliogliomas, whereas mutations in other genes, such as FGFR1, H3K27M, KRAS, IDH1, and RAF1, were rare.

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