# Molecular features in gangliogliomas: a systematic review

**Authors:** Benedito Jamilson Araújo Pereira, Sueli Mieko Oba-Shinjo, Ivy Karoline Herculano de Azevedo, Yuri Reis Casal, Wen Hung Tzu, Antônio Nogueira de Almeida, Wellingson Silva Paiva, Suely Kazue Nagahashi Marie

PMC · DOI: 10.1007/s00381-026-07170-7 · 2026-02-21

## 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.

## Key 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.

## Linked entities

- **Genes:** FGFR1 (fibroblast growth factor receptor 1) [NCBI Gene 2260], KRAS (KRAS proto-oncogene, GTPase) [NCBI Gene 3845], IDH1 (isocitrate dehydrogenase (NADP(+)) 1) [NCBI Gene 3417], RAF1 (Raf-1 proto-oncogene, serine/threonine kinase) [NCBI Gene 5894]
- **Diseases:** ganglioglioma (MONDO:0016733)

## Full-text entities

- **Genes:** KIAA1549 (KIAA1549) [NCBI Gene 57670] {aka RP86}, SRGAP3 (SLIT-ROBO Rho GTPase activating protein 3) [NCBI Gene 9901] {aka ARHGAP14, MEGAP, SRGAP2, WRP}, FUBP1 (far upstream element binding protein 1) [NCBI Gene 8880] {aka FBP, FUBP, hDH V}, KRAS (KRAS proto-oncogene, GTPase) [NCBI Gene 3845] {aka 'C-K-RAS, C-K-RAS, CFC2, K-RAS2A, K-RAS2B, K-RAS4A}, ATG7 (autophagy related 7) [NCBI Gene 10533] {aka APG7-LIKE, APG7L, GSA7, SCAR31}, GAB2 (GRB2 associated binding protein 2) [NCBI Gene 9846], PRKCA (protein kinase C alpha) [NCBI Gene 5578] {aka AAG6, PKC-alpha, PKCA, PKCI+/-, PKCalpha}, TRIM33 (tripartite motif containing 33) [NCBI Gene 51592] {aka DDH4, ECTO, PTC7, RFG7, TF1G, TIF1G}, NFIA (nuclear factor I A) [NCBI Gene 4774] {aka BRMUTD, C1DELp32p31, CTF, DEL1P32P31, NF-I/A, NF1-A}, MAPK1 (mitogen-activated protein kinase 1) [NCBI Gene 5594] {aka ERK, ERK-2, ERK2, ERT1, MAPK2, NS13}, ATRX (ATRX chromatin remodeler) [NCBI Gene 546] {aka JMS, MRX52, RAD54, RAD54L, XH2, XNP}, TERT (telomerase reverse transcriptase) [NCBI Gene 7015] {aka CMM9, DKCA2, DKCB4, EST2, PFBMFT1, TCS1}, FGFR1 (fibroblast growth factor receptor 1) [NCBI Gene 2260] {aka BFGFR, CD331, CEK, ECCL, FGFBR, FGFR-1}, H3-3A (H3.3 histone A) [NCBI Gene 3020] {aka BRYLIB1, H3.3A, H3F3, H3F3A}, ERC2 (ELKS/RAB6-interacting/CAST family member 2) [NCBI Gene 26059] {aka CAST, CAST1, ELKSL, SPBC110, Spc110}, CIC (capicua transcriptional repressor) [NCBI Gene 23152] {aka MRD45}, NF1 (neurofibromin 1) [NCBI Gene 4763] {aka NFNS, VRNF, WSS}, ABL2 (ABL proto-oncogene 2, non-receptor tyrosine kinase) [NCBI Gene 27] {aka ABLL, ARG}, QKI (QKI, KH domain containing RNA binding) [NCBI Gene 9444] {aka Hqk, QK, QK1, QK3, hqkI}, BRAF (B-Raf proto-oncogene, serine/threonine kinase) [NCBI Gene 673] {aka B-RAF1, B-raf, BRAF-1, BRAF1, NS7, RAFB1}, H3C2 (H3 clustered histone 2) [NCBI Gene 8358] {aka H3/l, H3FL, HIST1H3B}, TP53 (tumor protein p53) [NCBI Gene 7157] {aka BCC7, BMFS5, LFS1, P53, TRP53}, FGFR2 (fibroblast growth factor receptor 2) [NCBI Gene 2263] {aka BBDS, BEK, BFR-1, CD332, CEK3, CFD1}, PTEN (phosphatase and tensin homolog) [NCBI Gene 5728] {aka 10q23del, BZS, CWS1, DEC, GLM2, MHAM}, CDKN2A (cyclin dependent kinase inhibitor 2A) [NCBI Gene 1029] {aka ARF, CAI2, CDK4I, CDKN2, CMM2, INK4}, VEGFA (vascular endothelial growth factor A) [NCBI Gene 7422] {aka L-VEGF, MVCD1, VEGF, VPF}, RET (ret proto-oncogene) [NCBI Gene 5979] {aka CDHF12, CDHR16, HSCR1, MEN2A, MEN2B, MTC1}, IL1R1 (interleukin 1 receptor type 1) [NCBI Gene 3554] {aka CD121A, CRMO3, D2S1473, IL-1R-alpha, IL-1RT1, IL1R}, RAF1 (Raf-1 proto-oncogene, serine/threonine kinase) [NCBI Gene 5894] {aka CMD1NN, CRAF, NS5, Raf-1, c-Raf}, SLC44A1 (solute carrier family 44 member 1) [NCBI Gene 23446] {aka CD92, CDW92, CHTL1, CONATOC, CTL1}, IDH1 (isocitrate dehydrogenase (NADP(+)) 1) [NCBI Gene 3417] {aka HEL-216, HEL-S-26, IDCD, IDH, IDP, IDPC}, H3C3 (H3 clustered histone 3) [NCBI Gene 8352] {aka H3.1, H3/c, H3FC, HIST1H3C}, MAP2K7 (mitogen-activated protein kinase kinase 7) [NCBI Gene 5609] {aka JNKK2, MAPKK7, MEK, MEK 7, MKK7, PRKMK7}
- **Diseases:** cancers (MESH:D009369), CNS tumors (MESH:D016543), anaplastic (MESH:D002277), GGs (MESH:D018303), inflammatory (MESH:D007249), metastasis (MESH:D009362), Diffuse midline gliomas (MESH:D005910), melanoma (MESH:D008545), gliosis (MESH:D005911), epilepsy (MESH:D004827), death (MESH:D003643), meningiomas (MESH:D008579), seizure (MESH:D012640), epilepsy-associated tumors (MESH:D000072716), diffuse astrocytoma (MESH:D001254), epithelioid glioblastoma (MESH:D005909), Childs Nervous System (MESH:D009422), papillary glioneural tumors (MESH:D002291), colon carcinoma (MESH:D003110), brain tumors (MESH:D001932), medulloblastomas (MESH:D008527), focal epilepsy (MESH:D004828), dysembryoplastic neuroepithelial tumor (MESH:D018302)
- **Chemicals:** Vemurafenib (MESH:D000077484), Tafinlar (MESH:C561627), Braftovi (MESH:C000601108)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** glutamic acid-to-valine, c.1794_1796dupTAC, G34R/V, p.Thr599dup, V600, serine/threonine, K27, K27M

## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12923415/full.md

---
Source: https://tomesphere.com/paper/PMC12923415