Cerebral Neoplasm

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

This study presents a series of 81 cases of diffuse hemispheric glioma, H3 G34-mutant (DHG G34m). Cases were noted to have either the histological appearance of a typical glioblastoma (73%) or as prim… (full text at CIViC)

PMID 26482474 · Korshunov et al., 2016 · Open in CIViC

Schwartzentruber et al. performed whole-exome sequencing (WES) on 48 paediatric GBM samples (patients aged 3–20 years, tumour cores containing >90% neoplastic tissue, median 61-fold coverage with 91% … (full text at CIViC)

PMID 22286061 · Schwartzentruber et al., 2012 · Open in CIViC

This study presents a series of 81 cases of diffuse hemispheric glioma, H3 G34-mutant (DHG G34m). Cases were noted to have either the histological appearance of a typical glioblastoma (73%) or as prim… (full text at CIViC)

PMID 26482474 · Korshunov et al., 2016 · Open in CIViC

G34V is the rarer of the two G34 substitutions identified in this stud by Schwartzentruber et al, with only 1/48 tumours in the primary WES cohort harbouring this variant (sample PGBM16), compared to … (full text at CIViC)

PMID 22286061 · Schwartzentruber et al., 2012 · 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