H3-3A

Diagnostic

Supports Positive

submitted

EID12832

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

〃

Diagnostic

Supports Positive

submitted

EID12856

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

〃

Brain GlioblastomaALIAS

Diagnostic

Supports Positive

rejected

EID9416

Whole exome sequencing was performed on the glioblastomas of 48 patients (between 3 and 20 years of age). The authors also analyzed gliomas of 784 patients of various ages. The G34R variant has been r… (full text at CIViC)

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

〃

Diffuse Glioma, H3 G34 MutantUNRESOLVED

Diagnostic

Supports Positive

accepted

EID9526

Whole-genome sequencing (WGS) was performed on the diffuse intrinsic pontine gliomas (DIPGs) and matched germline DNA of 7 pediatric patients. Targeted sequencing was performed on an additional 43 DIP… (full text at CIViC)

PMID 22286216 · Wu et al., 2012 · Open in CIViC

〃

GlioblastomaCURATED_BROADER

Diagnostic

Supports Positive

submitted

EID9610

In this retrospective study, 112 adolescents and young adults (AYA; between 15 and 25 years of age; median 21 years) who had a histopathological diagnosis of high-grade gliomas were analyzed. The H3K2… (full text at CIViC)

PMID 32025728 · Roux et al., 2020 · Open in CIViC

〃

GlioblastomaCURATED_BROADER

Diagnostic

Supports Positive

submitted

EID9817

Sturm, et al. (2012) analyzed 3 subgroups of glioblastoma samples using different methods: by sequencing (460 samples), by methylation profiling (59 pediatric and 77 adult samples), and with tissue-mi… (full text at CIViC)

PMID 23079654 · Sturm et al., 2012 · Open in CIViC

〃

GlioblastomaCURATED_BROADER

Diagnostic

Supports Positive

rejected

EID9820

Korshunov, et al. (2016) studied 81 central nervous system (CNS) tumors (located in temporal and parietal lobe in 80% of cases, 88% carried TP53 variant, 95% carried ATRX loss), including: 59 glioblas… (full text at CIViC)

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

〃

Central Nervous System Embryonal TumorCURATED_BROADER

Diagnostic

Supports Positive

rejected

EID9821

Korshunov, et al. (2016) studied 81 central nervous system tumors (located in temporal and parietal lobe in 80% of cases, 88% carried TP53 variant, 95% carried ATRX loss), including: 59 glioblastoma-l… (full text at CIViC)

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

〃

Anaplastic AstrocytomaCURATED_BROADER

Diagnostic

Supports Positive

submitted

EID9609

PMID 32025728 · Roux et al., 2020 · Open in CIViC

〃

High-Grade Glioma, NOS

Diagnostic

Supports Positive

submitted

EID9839

Yoshimoto, et al. (2017) analyzed 411 gliomas of Japanese patients (median age of 46 years (ranged between 1 to 87 years)). Direct sequencing revealed H3F3A p.G34R in 4 cases (median age 10 years (ran… (full text at CIViC)

PMID 28447171 · Yoshimoto et al., 2017 · Open in CIViC

H3-3A G35V6
(diagnostic)	Diffuse Hemispheric Glioma, H3 G34-Mutant	Diagnostic	B	Supports Positive	4	submitted	EID12833 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	civic
〃	Diffuse Hemispheric Glioma, H3 G34-Mutant	Diagnostic	B	Supports Positive	4	submitted	EID12857 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	civic
〃	Brain GlioblastomaALIAS	Diagnostic	C	Supports Positive	3	rejected	EID9415 Whole genome sequencing was performed on the glioblastomas of 48 patients (between 3 and 20 years of age). The authors also analyzed gliomas of 784 patients of various ages. The G34V variant has been … (full text at CIViC) PMID 22286061 · Schwartzentruber et al., 2012 · Open in CIViC	civic
〃	GlioblastomaCURATED_BROADER	Diagnostic	C	Supports Positive	3	submitted	EID9822 Korshunov, et al. (2016) studied 81 central nervous system tumors (located in temporal and parietal lobe in 80% of cases, 88% carried TP53 variant, 95% carried ATRX loss), including: 59 glioblastoma-l… (full text at CIViC) PMID 26482474 · Korshunov et al., 2016 · Open in CIViC	civic
〃	GlioblastomaCURATED_BROADER	Diagnostic	C	Supports Positive	1	submitted	EID9818 Sturm, et al. (2012) analyzed 3 subgroups of glioblastoma samples using different methods: by sequencing (460 samples), by methylation profiling (59 pediatric and 77 adult samples), and with tissue-mi… (full text at CIViC) PMID 23079654 · Sturm et al., 2012 · Open in CIViC	civic
〃	Central Nervous System Embryonal TumorCURATED_BROADER	Diagnostic	C	Supports Positive	1	submitted	EID9823 Korshunov, et al. (2016) studied 81 central nervous system tumors (located in temporal and parietal lobe in 80% of cases, 88% carried TP53 variant, 95% carried ATRX loss), including: 59 glioblastoma-l… (full text at CIViC) PMID 26482474 · Korshunov et al., 2016 · Open in CIViC	civic

H3-3A G35V6

(diagnostic)

Diagnostic

Supports Positive

submitted

EID12833

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

〃

Diagnostic

Supports Positive

submitted

EID12857

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

〃

Brain GlioblastomaALIAS

Diagnostic

Supports Positive

rejected

EID9415

Whole genome sequencing was performed on the glioblastomas of 48 patients (between 3 and 20 years of age). The authors also analyzed gliomas of 784 patients of various ages. The G34V variant has been … (full text at CIViC)

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

〃

GlioblastomaCURATED_BROADER

Diagnostic

Supports Positive

submitted

EID9822

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

〃

GlioblastomaCURATED_BROADER

Diagnostic

Supports Positive

submitted

EID9818

PMID 23079654 · Sturm et al., 2012 · Open in CIViC

〃

Central Nervous System Embryonal TumorCURATED_BROADER

Diagnostic

Supports Positive

submitted

EID9823

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

H3-3A G35W3
(diagnostic)	Giant Cell Tumor of BoneALIAS	Diagnostic	B	Supports Positive	4	accepted	EID6469 In this study, the authors analyzed 53 cases of giant cell tumour of bone using capillary sequencing and massively parallel sequencing. They identified histone 3.3 mutations in 49/53 cases (92%). All … (full text at CIViC) PMID 24162739 · Behjati et al., 2013 · Open in CIViC	civic
〃	Giant Cell Tumor of BoneALIAS	Diagnostic	B	Supports Positive	4	accepted	EID12749 In this 2015 study, formalin-fixed paraffin-embedded (FFPE) tissue samples were retrieved from the diagnostic pathology archives of the Royal National Orthopaedic Hospital (RNOH) and the Basel Bone Tu… (full text at CIViC) PMID 27499898 · Presneau et al., 2015 · Open in CIViC	civic
〃	Giant Cell Tumor of BoneALIAS	Diagnostic	B	Supports Positive	3	accepted	EID12750 In this 2015 study, formalin-fixed, paraffin-embedded (FFPE) tumor samples diagnosed between 1996 and 2014 as giant cell tumor of bone (GCTB), chondroblastoma, chondromyxoid fibroma, aneurysmal bone c… (full text at CIViC) PMID 26457357 · Cleven et al., 2015 · Open in CIViC	civic

H3-3A G35W3

(diagnostic)

Giant Cell Tumor of BoneALIAS

Diagnostic

Supports Positive

accepted

EID6469

In this study, the authors analyzed 53 cases of giant cell tumour of bone using capillary sequencing and massively parallel sequencing. They identified histone 3.3 mutations in 49/53 cases (92%). All … (full text at CIViC)

PMID 24162739 · Behjati et al., 2013 · Open in CIViC

〃

Giant Cell Tumor of BoneALIAS

Diagnostic

Supports Positive

accepted

EID12749

In this 2015 study, formalin-fixed paraffin-embedded (FFPE) tissue samples were retrieved from the diagnostic pathology archives of the Royal National Orthopaedic Hospital (RNOH) and the Basel Bone Tu… (full text at CIViC)

PMID 27499898 · Presneau et al., 2015 · Open in CIViC

〃

Giant Cell Tumor of BoneALIAS

Diagnostic

Supports Positive

accepted

EID12750

In this 2015 study, formalin-fixed, paraffin-embedded (FFPE) tumor samples diagnosed between 1996 and 2014 as giant cell tumor of bone (GCTB), chondroblastoma, chondromyxoid fibroma, aneurysmal bone c… (full text at CIViC)

PMID 26457357 · Cleven et al., 2015 · Open in CIViC

H3-3A K282
(diagnostic)	Diffuse Midline Glioma, H3 K27-Altered	Diagnostic	B	Supports Positive	3	submitted	EID9608 In this retrospective study, 112 adolescents and young adults (AYA; between 15 and 25 years of age; median 21 years) who had a histopathological diagnosis of high-grade gliomas were analyzed. The H3K2… (full text at CIViC) PMID 32025728 · Roux et al., 2020 · Open in CIViC	civic
〃	GlioblastomaCURATED_BROADER	Diagnostic	B	Supports Positive	3	submitted	EID9812 Sturm, et al. (2012) analyzed 3 subgroups of glioblastoma samples using different methods: by sequencing (460 samples), by methylation profiling (59 pediatric and 77 adult samples), and with tissue-mi… (full text at CIViC) PMID 23079654 · Sturm et al., 2012 · Open in CIViC	civic

H3-3A K282

(diagnostic)

Diagnostic

Supports Positive

submitted

EID9608

PMID 32025728 · Roux et al., 2020 · Open in CIViC

〃

GlioblastomaCURATED_BROADER

Diagnostic

Supports Positive

submitted

EID9812

PMID 23079654 · Sturm et al., 2012 · Open in CIViC

H3-3A K28M28
(diagnostic)	Diffuse Midline Glioma, H3 K27-Altered	Diagnostic	A	Supports Positive	5	submitted	EID8626 Diffuse midline gliomas, H3 K27M-mutant is a newly defined entity in the 2016 WHO Classification. It primarily occurs in children (but sometimes in adults) and include tumors previously referred to as… (full text at CIViC) PMID 27157931 · Louis et al., 2016 · Open in CIViC	civic
〃	GlioblastomaCURATED_BROADER	Diagnostic	B	Supports Positive	4	submitted	EID6449 Of a set of 338 pediatric brain tumors, Gielen et al identified the K27M mutation in 35 of 129 glioblastomas (27.1%) and in 5 of 28 (17.9%) anaplastic astrocytomas. The authors state that H3F3A K27M c… (full text at CIViC) PMID 23429371 · Gielen et al., 2013 · Open in CIViC	civic
〃	Diffuse Midline Glioma, H3 K27-Altered	Diagnostic	B	Supports Positive	4	submitted	EID9414 Whole exome sequencing was performed on the glioblastomas of 48 pediatric patients (between 3 and 20 years of age). The authors also analyzed gliomas of 784 patients of various ages. The K27M variant … (full text at CIViC) PMID 22286061 · Schwartzentruber et al., 2012 · Open in CIViC	civic
(oncogenic)	Diffuse Midline Glioma, H3 K27-Altered	Oncogenic	B	Supports Oncogenicity	4	submitted	EID10600 In this study, 91 patients with diffuse intrinsic pontine glioma (DIPG) underwent stereotactic biopsy and were analyzed using histone H3 mutation testing, immunohistochemistry, gene expression profili… (full text at CIViC) PMID 26399631 · Castel et al., 2015 · Open in CIViC	civic
(diagnostic)	Diffuse Midline Glioma, H3 K27-Altered	Diagnostic	B	Supports Positive	3	accepted	EID6450 Wu et al analyzed 127 pediatric HGGs, including diffuse intrinsic pontine gliomas (DIPGs) and non-brainstem HGGs (NBS-HGGs) by whole genome, whole exome, and/or transcriptome sequencing. In addition t… (full text at CIViC) PMID 24705251 · Wu et al., 2014 · Open in CIViC	civic
〃	Diffuse Midline Glioma, H3 K27-Altered	Diagnostic	B	Supports Positive	3	accepted	EID6453 Whole genome sequencing (WGS) was performed on the diffuse intrinsic pontine gliomas (DIPGs) and matched germline DNA of 7 pediatric patients. Targeted sequencing was performed on an additional 43 DIP… (full text at CIViC) PMID 22286216 · Wu et al., 2012 · Open in CIViC	civic
〃	Childhood Spinal Cord NeoplasmALIAS	Diagnostic	B	Supports Positive	3	submitted	EID9794 Gessi, et al. (2015) studied 30 primary spinal diffuse high-grade gliomas (HGG) and 6 diffuse astrocytomas. The H3F3A p.K27M variant has been reported in 16 HGG (including 2 anaplastic gangliogliomas,… (full text at CIViC) PMID 26231952 · Gessi et al., 2015 · Open in CIViC	civic
〃	Anaplastic AstrocytomaCURATED_BROADER	Diagnostic	B	Supports Positive	3	submitted	EID9800 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	civic
〃	GlioblastomaCURATED_BROADER	Diagnostic	B	Supports Positive	3	submitted	EID9801 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	civic
〃	GlioblastomaCURATED_BROADER	Diagnostic	B	Supports Positive	3	rejected	EID9816 Sturm, et al. (2012) analyzed 3 subgroups of glioblastoma samples using different methods: by sequencing (460 samples), by methylation profiling (59 pediatric and 77 adult samples), and with tissue-mi… (full text at CIViC) PMID 23079654 · Sturm et al., 2012 · Open in CIViC	civic
〃	GlioblastomaCURATED_BROADER	Diagnostic	B	Supports Positive	3	submitted	EID9824 Yoshimoto, et al. (2017) analyzed 411 gliomas of Japanese patients (median age of 46 years (ranged between 1 to 87 years)). Direct sequencing revealed H3F3A p.K27M in 10 glioblastoma cases (median age… (full text at CIViC) PMID 28447171 · Yoshimoto et al., 2017 · Open in CIViC	civic
〃	GlioblastomaCURATED_BROADER	Diagnostic	B	Supports Positive	3	submitted	EID9850 Buczkowicz, et al. (2014) analyzed 74 diffuse midline glioma, H3 K27M-mutant (here referred to as diffuse intrinsic pontine glioma) cases (median age at diagnosis 6 years, median survival of 10 months… (full text at CIViC) PMID 24705254 · Buczkowicz et al., 2014 · Open in CIViC	civic
〃	Diffuse Midline Glioma, H3 K27-Altered	Diagnostic	B	Supports Positive	3	accepted	EID10605 This retrospective study analyzed 91 biopsy-confirmed diffuse intrinsic pontine glioma (DIPG) patients using systematic stereotactic or surgical biopsy at diagnosis. Histone H3 alterations were assess… (full text at CIViC) PMID 26399631 · Castel et al., 2015 · Open in CIViC	civic
〃	Brain GlioblastomaALIAS	Diagnostic	B	Supports Positive	3	accepted	EID11038 Whole genome sequencing (WGS) was performed on the diffuse intrinsic pontine gliomas (DIPGs) and matched germline DNA of 7 pediatric patients. Targeted sequencing was performed on an additional 43 DIP… (full text at CIViC) PMID 22286216 · Wu et al., 2012 · Open in CIViC	civic
〃	GlioblastomaCURATED_BROADER	Diagnostic	B	Supports Positive	2	submitted	EID9840 Taylor, et al. (2014) presented 26 diffuse midline glioma, H3 K27M-mutant (here referred to as diffuse intrinsic pontine glioma) cases (median age 6 years, median overall survival was 11 months). Whol… (full text at CIViC) PMID 24705252 · Taylor et al., 2014 · Open in CIViC	civic
〃	Anaplastic AstrocytomaCURATED_BROADER	Diagnostic	B	Supports Positive	2	submitted	EID9841 Taylor, et al. (2014) presented 26 diffuse midline glioma, H3 K27M-mutant (here referred to as diffuse intrinsic pontine glioma) cases (median age 6 years, median overall survival was 11 months, 20 of… (full text at CIViC) PMID 24705252 · Taylor et al., 2014 · Open in CIViC	civic
〃	Diffuse AstrocytomaCURATED_BROADER	Diagnostic	B	Supports Positive	2	submitted	EID9842 Taylor, et al. (2014) presented 26 diffuse midline glioma, H3 K27M-mutant (here referred to as diffuse intrinsic pontine glioma) cases (median age 6 years, median overall survival was 11 months, 20 of… (full text at CIViC) PMID 24705252 · Taylor et al., 2014 · Open in CIViC	civic
〃	Diffuse Midline Glioma, H3 K27-Altered	Diagnostic	C	Supports Positive	4	submitted	EID9792 Zhang et al. (2013) studied 151 tumors from 149 patients. The H3F3A p.K27M variant has been reported in 3 tumors (1.9%). The first sample (SJLGG037_D) was of a less than 3-year-old male patient screen… (full text at CIViC) PMID 23583981 · Zhang et al., 2013 · Open in CIViC	civic
〃	Ganglioglioma	Diagnostic	C	Supports Positive	3	submitted	EID9795 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	civic
〃	Diffuse AstrocytomaCURATED_BROADER	Diagnostic	C	Supports Positive	3	submitted	EID9848 Buczkowicz, et al. (2014) analyzed 74 diffuse midline glioma, H3 K27M-mutant (here referred to as diffuse intrinsic pontine glioma) cases (median age at diagnosis 6 years, median survival of 10 months… (full text at CIViC) PMID 24705254 · Buczkowicz et al., 2014 · Open in CIViC	civic
〃	Anaplastic AstrocytomaCURATED_BROADER	Diagnostic	C	Supports Positive	3	submitted	EID9849 Buczkowicz, et al. (2014) analyzed 74 diffuse midline glioma, H3 K27M-mutant (here referred to as diffuse intrinsic pontine glioma) cases (median age at diagnosis 6 years, median survival of 10 months… (full text at CIViC) PMID 24705254 · Buczkowicz et al., 2014 · Open in CIViC	civic
〃	Childhood Spinal Cord NeoplasmALIAS	Diagnostic	C	Supports Positive	3	submitted	EID10803 16 of 30 high-grade gliomas (HGG) were found to harbor K27M mutations. The frequency of mutations was similar between adults and children (52% vs 54%). PMID 26231952 · Gessi et al., 2015 · Open in CIViC	civic
〃	Ganglioglioma	Diagnostic	C	Supports Positive	2	submitted	EID9798 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	civic
〃	Diffuse AstrocytomaCURATED_BROADER	Diagnostic	C	Supports Positive	2	submitted	EID9799 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	civic
〃	Pilocytic Astrocytoma	Diagnostic	C	Supports Positive	1	rejected	EID9797 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	civic
〃	OligodendrogliomaCURATED_BROADER	Diagnostic	C	Supports Positive	1	rejected	EID9837 Yoshimoto, et al. (2017) analyzed 411 gliomas of Japanese patients (median age of 46 years (ranged between 1 to 87 years)). Direct sequencing revealed H3F3A p.K27R in one 51 years of age oligodendrogl… (full text at CIViC) PMID 28447171 · Yoshimoto et al., 2017 · Open in CIViC	civic
(prognostic)	Diffuse Midline Glioma, H3 K27-Altered	Prognostic	D	Supports Poor Outcome	3	submitted	EID10602 Diffuse intrinsic pontine glioma (DIPG) patients harboring a H3.3 K27M mutation have a proneural/oligodendroglial phenotype and a prometastatic gene expression with PDGFRA activation. These mutation c… (full text at CIViC) PMID 26399631 · Castel et al., 2015 · Open in CIViC	civic
Dordaviprone	Diffuse Midline Glioma, H3 K27-Altered	Predictive	A	Supports Sensitivity Response	4	accepted	EID12695 In a pooled analysis of five phase I–II trials and an expanded access program of ONC201 (dordaviprone) for recurrent H3 K27M–mutant diffuse midline glioma (NCT02525692, NCT03295396, NCT03416530, NCT03… (full text at CIViC) PMID 38335473 · Arrillaga-Romany et al., 2024 · Open in CIViC	civic

H3-3A K28M28

(diagnostic)

Diagnostic

Supports Positive

submitted

EID8626

Diffuse midline gliomas, H3 K27M-mutant is a newly defined entity in the 2016 WHO Classification. It primarily occurs in children (but sometimes in adults) and include tumors previously referred to as… (full text at CIViC)

PMID 27157931 · Louis et al., 2016 · Open in CIViC

〃

GlioblastomaCURATED_BROADER

Diagnostic

Supports Positive

submitted

EID6449

Of a set of 338 pediatric brain tumors, Gielen et al identified the K27M mutation in 35 of 129 glioblastomas (27.1%) and in 5 of 28 (17.9%) anaplastic astrocytomas. The authors state that H3F3A K27M c… (full text at CIViC)

PMID 23429371 · Gielen et al., 2013 · Open in CIViC

〃

Diagnostic

Supports Positive

submitted

EID9414

Whole exome sequencing was performed on the glioblastomas of 48 pediatric patients (between 3 and 20 years of age). The authors also analyzed gliomas of 784 patients of various ages. The K27M variant … (full text at CIViC)

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

(oncogenic)

Oncogenic

Supports Oncogenicity

submitted

EID10600

In this study, 91 patients with diffuse intrinsic pontine glioma (DIPG) underwent stereotactic biopsy and were analyzed using histone H3 mutation testing, immunohistochemistry, gene expression profili… (full text at CIViC)

PMID 26399631 · Castel et al., 2015 · Open in CIViC

(diagnostic)

Diagnostic

Supports Positive

accepted

EID6450

Wu et al analyzed 127 pediatric HGGs, including diffuse intrinsic pontine gliomas (DIPGs) and non-brainstem HGGs (NBS-HGGs) by whole genome, whole exome, and/or transcriptome sequencing. In addition t… (full text at CIViC)

PMID 24705251 · Wu et al., 2014 · Open in CIViC

〃

Diagnostic

Supports Positive

accepted

EID6453

Whole genome sequencing (WGS) was performed on the diffuse intrinsic pontine gliomas (DIPGs) and matched germline DNA of 7 pediatric patients. Targeted sequencing was performed on an additional 43 DIP… (full text at CIViC)

PMID 22286216 · Wu et al., 2012 · Open in CIViC

〃

Childhood Spinal Cord NeoplasmALIAS

Diagnostic

Supports Positive

submitted

EID9794

Gessi, et al. (2015) studied 30 primary spinal diffuse high-grade gliomas (HGG) and 6 diffuse astrocytomas. The H3F3A p.K27M variant has been reported in 16 HGG (including 2 anaplastic gangliogliomas,… (full text at CIViC)

PMID 26231952 · Gessi et al., 2015 · Open in CIViC

〃

Anaplastic AstrocytomaCURATED_BROADER

Diagnostic

Supports Positive

submitted

EID9800

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

〃

GlioblastomaCURATED_BROADER

Diagnostic

Supports Positive

submitted

EID9801

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

〃

GlioblastomaCURATED_BROADER

Diagnostic

Supports Positive

rejected

EID9816

PMID 23079654 · Sturm et al., 2012 · Open in CIViC

〃

GlioblastomaCURATED_BROADER

Diagnostic

Supports Positive

submitted

EID9824

Yoshimoto, et al. (2017) analyzed 411 gliomas of Japanese patients (median age of 46 years (ranged between 1 to 87 years)). Direct sequencing revealed H3F3A p.K27M in 10 glioblastoma cases (median age… (full text at CIViC)

PMID 28447171 · Yoshimoto et al., 2017 · Open in CIViC

〃

GlioblastomaCURATED_BROADER

Diagnostic

Supports Positive

submitted

EID9850

Buczkowicz, et al. (2014) analyzed 74 diffuse midline glioma, H3 K27M-mutant (here referred to as diffuse intrinsic pontine glioma) cases (median age at diagnosis 6 years, median survival of 10 months… (full text at CIViC)

PMID 24705254 · Buczkowicz et al., 2014 · Open in CIViC

〃

Diagnostic

Supports Positive

accepted

EID10605

This retrospective study analyzed 91 biopsy-confirmed diffuse intrinsic pontine glioma (DIPG) patients using systematic stereotactic or surgical biopsy at diagnosis. Histone H3 alterations were assess… (full text at CIViC)

PMID 26399631 · Castel et al., 2015 · Open in CIViC

〃

Brain GlioblastomaALIAS

Diagnostic

Supports Positive

accepted

EID11038

PMID 22286216 · Wu et al., 2012 · Open in CIViC

〃

GlioblastomaCURATED_BROADER

Diagnostic

Supports Positive

submitted

EID9840

Taylor, et al. (2014) presented 26 diffuse midline glioma, H3 K27M-mutant (here referred to as diffuse intrinsic pontine glioma) cases (median age 6 years, median overall survival was 11 months). Whol… (full text at CIViC)

PMID 24705252 · Taylor et al., 2014 · Open in CIViC

〃

Anaplastic AstrocytomaCURATED_BROADER

Diagnostic

Supports Positive

submitted

EID9841

PMID 24705252 · Taylor et al., 2014 · Open in CIViC

〃

Diffuse AstrocytomaCURATED_BROADER

Diagnostic

Supports Positive

submitted

EID9842

PMID 24705252 · Taylor et al., 2014 · Open in CIViC

〃

Diagnostic

Supports Positive

submitted

EID9792

Zhang et al. (2013) studied 151 tumors from 149 patients. The H3F3A p.K27M variant has been reported in 3 tumors (1.9%). The first sample (SJLGG037_D) was of a less than 3-year-old male patient screen… (full text at CIViC)

PMID 23583981 · Zhang et al., 2013 · Open in CIViC

〃

Ganglioglioma

Diagnostic

Supports Positive

submitted

EID9795

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

〃

Diffuse AstrocytomaCURATED_BROADER

Diagnostic

Supports Positive

submitted

EID9848

PMID 24705254 · Buczkowicz et al., 2014 · Open in CIViC

〃

Anaplastic AstrocytomaCURATED_BROADER

Diagnostic

Supports Positive

submitted

EID9849

PMID 24705254 · Buczkowicz et al., 2014 · Open in CIViC

〃

Childhood Spinal Cord NeoplasmALIAS

Diagnostic

Supports Positive

submitted

EID10803

16 of 30 high-grade gliomas (HGG) were found to harbor K27M mutations. The frequency of mutations was similar between adults and children (52% vs 54%).

PMID 26231952 · Gessi et al., 2015 · Open in CIViC

〃

Ganglioglioma

Diagnostic

Supports Positive

submitted

EID9798

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

〃

Diffuse AstrocytomaCURATED_BROADER

Diagnostic

Supports Positive

submitted

EID9799

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

〃

Pilocytic Astrocytoma

Diagnostic

Supports Positive

rejected

EID9797

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

〃

OligodendrogliomaCURATED_BROADER

Diagnostic

Supports Positive

rejected

EID9837

Yoshimoto, et al. (2017) analyzed 411 gliomas of Japanese patients (median age of 46 years (ranged between 1 to 87 years)). Direct sequencing revealed H3F3A p.K27R in one 51 years of age oligodendrogl… (full text at CIViC)

PMID 28447171 · Yoshimoto et al., 2017 · Open in CIViC

(prognostic)

Prognostic

Supports Poor Outcome

submitted

EID10602

Diffuse intrinsic pontine glioma (DIPG) patients harboring a H3.3 K27M mutation have a proneural/oligodendroglial phenotype and a prometastatic gene expression with PDGFRA activation. These mutation c… (full text at CIViC)

PMID 26399631 · Castel et al., 2015 · Open in CIViC

Dordaviprone

Predictive

Supports Sensitivity Response

accepted

EID12695

In a pooled analysis of five phase I–II trials and an expanded access program of ONC201 (dordaviprone) for recurrent H3 K27M–mutant diffuse midline glioma (NCT02525692, NCT03295396, NCT03416530, NCT03… (full text at CIViC)

PMID 38335473 · Arrillaga-Romany et al., 2024 · Open in CIViC