Glioneuronal and Neuronal Tumors

In the STARTRK-NG (NCT02650401) phase 1/2 trial, a 10 year old patient with prior chemotherapy treatment who had Ganglioglioma in the Spine, with a tumor category of low grade glioma, and WHO histolog… (full text at CIViC)

PMID 35395680 · Desai et al., 2022 · Open in CIViC

In an 11-year-old female presenting with seizures, a mixed MVNT with a ganglioglioma-like component located in the left temporal lobe revealed a BRAF p.G469S mutation (NM_004333.6:c.1405_1406delinsTC;… (full text at CIViC)

PMID 29428973 · Pekmezci et al., 2018 · Open in CIViC

In a 54-year-old female with chronic headache and a right temporal lobe MVNT, NGS (479-gene panel) identified a BRAF p.L597R mutation (NM_004333.6:c.1790T>G; VAF 5%).

PMID 29428973 · Pekmezci et al., 2018 · Open in CIViC

Eight MVNT cases (6 pure MVNT and 2 with ganglioglioma-like features) were examined, comprising 4 males and 4 females aged 11–63 years (median 39). Tumors were localized to the temporal lobe (n=7) or … (full text at CIViC)

PMID 29428973 · Pekmezci et al., 2018 · Open in CIViC

A pediatric case of ganglioglioma was previously reported (PMID: 29434027) to harbor a BRAF p.T599dup variant (observed at VAF of 5.2%). The patient had a partial resection and was then treated with V… (full text at CIViC)

PMID 33637608 · Miller et al., 2021 · Open in CIViC

A grade I refractory brainstem ganglioglioma patient harboring BRAF V600E mutation was associated with partial response to vemurafenib monotherapy. The patient experienced significant clinical improve… (full text at CIViC)

PMID 26579623 · Aguilera et al., 2016 · Open in CIViC

In this case study, a 32-year-old man, previously fit and well, presented with a two-month history of vertigo, right visual disturbance, dysphagia, and ataxia. Brain MRI revealed a large mixed solid a… (full text at CIViC)

PMID 31985841 · Yau et al., 2020 · Open in CIViC

In this case study, a 28-year-old male with BRAF V600E-mutant anaplastic ganglioglioma was started with vemurafenib at 960 mg twice daily in March 2015 for tumour recurrence despite one surgical resec… (full text at CIViC)

PMID 30120137 · Touat et al., 2018 · Open in CIViC

In a phase 1/2 trial of entrectinib in pediatric patients, tumors with fusions in NTRK, ROS1, or ALK had an overall response (ORR) of 57.7% (95% CI; 36.9-76.7). This included one patient (3 yo) with … (full text at CIViC)

PMID 35395680 · Desai et al., 2022 · Open in CIViC

In a phase 1/2 trial of entrectinib in pediatric patients, tumors with fusions in NTRK, ROS1, or ALK had an overall response (ORR) of 57.7% (95% CI; 36.9-76.7). This included one patient (9 yo) with … (full text at CIViC)

PMID 35395680 · Desai et al., 2022 · Open in CIViC

In the phase II NCI-MATCH EAY131-K2 trial, a patient with a WHO grade I dysembryoplastic neuroepithelial tumor harboring an FGFR1-TACC1 fusion had stable disease with a 24.2% maximum reduction in meas… (full text at CIViC)

PMID 38603650 · Gong et al., 2024 · Open in CIViC

Kleinschmidt-DeMasters, et al. (2017) analyzed 14 patient’s (age between 6 days and 62 years) gangliomas (GG). The H3F3A p.K27M variant has been reported in 2 GG: first was from 6 years old female met… (full text at CIViC)

PMID 28378357 · Kleinschmidt-DeMasters et al., 2017 · Open in CIViC

Kleinschmidt-DeMasters, et al. (2018) analyzed the tumor database for patients with the H3 K27M variant and found 28 cases (including 3 meeting WHO grade I and 25 meeting WHO grade II-IV criteria). Th… (full text at CIViC)

PMID 29393845 · Kleinschmidt-DeMasters et al., 2018 · Open in CIViC

Testing of 98 tumors diagnosed as gangliogliomas identified IDH1 R132H mutations in 8 patients. Mutation was associated with increased risk of recurrence (p=0.0007), malignant transformation and/or de… (full text at CIViC)

PMID 21314850 · Horbinski et al., 2011 · Open in CIViC

A 43-year-old male with chronic headache was found to have a left frontal multinodular and vacuolating neuronal tumor (MVNT). NGS targeting 479 cancer-associated genes identified a MAP2K1 in-frame ind… (full text at CIViC)

PMID 29428973 · Pekmezci et al., 2018 · Open in CIViC

NGS targeting 479 cancer-associated genes were performed on two MVNT cases: a 63-year-old female with left-hand paresthesia and a 54-year-old male with long-standing epilepsy, both located in the righ… (full text at CIViC)

PMID 29428973 · Pekmezci et al., 2018 · Open in CIViC

Mutations at codon K385 are specific to glial and glioneuronal tumors. In addition, tumors with these mutations do not typically have other pathogenic mutations in other typical brain-cancer-associate… (full text at CIViC)

PMID 30006677 · Solomon et al., 2018 · Open in CIViC

PDGFRA K385L (6) or K385I (2) mutations were identified as the sole somatic pathogenic alteration in 8 patients with low-grade glioneuronal tumors; furthering defining "Myxoid glioneuronal tumor, PDGF… (full text at CIViC)

PMID 31609499 · Lucas et al., 2020 · Open in CIViC

Molecular profiling of 13 patients with polymorphous low-grade neuroepithelial tumor of the young (PLNTY) at Mayo Clinic, identified 1 patient (15 yo female) with a QKI::NTRK2 (e6::e15) fusion.

PMID 34363682 · Ida et al., 2021 · Open in CIViC