Angiocentric glioma

Summary

Angiocentric glioma (MONDO:0016705) is a cancer with 1 cohort gene (1 CIViC-evidence somatic driver) and 2 clinical trials. Top therapeutic interventions include dabrafenib and trametinib.

At a glance

• Classification: Cancer
• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Cohort genes: 1
• Clinical trials: 2

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		52	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	angiocentric glioma
Mondo ID	MONDO:0016705
Orphanet	251671
DOID	DOID:0081261
NCIT	C92552
UMLS	C2363903
MedGen	453267
GARD	0020714
Is cancer (heuristic)	yes

Also known as: angiocentric glioma (WHO grade I) · angiocentric neuroepithelial tumor · angiocentric neuroepithelial tumour · ANGL · Monomorphus angiocentric glioma

Data availability: 1 cell line.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › nervous system neoplasm › neuroepithelial neoplasm › glioma › low grade glioma › angiocentric glioma

Related subtypes (5): schwannoma, low grade astrocytic tumor, grade II glioma, childhood low-grade glioma, diffuse low-grade glioma, MAPK pathway–altered

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 3 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Somatic driver evidence (intOGen + CIViC, cohort fanout)

Gene	intOGen role	Cancer types	CIViC
MYB			CIViC #3730

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
MYB	Orphanet:251671	Angiocentric glioma
MYB	Orphanet:86849	Acute basophilic leukemia
MYB	Orphanet:99861	Precursor T-cell acute lymphoblastic leukemia

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
civic_only	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
MYB	HGNC:7545	ENSG00000118513	P10242	Transcriptional activator Myb	civic_evidence

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
MYB	Transcriptional activator Myb	Transcriptional activator; DNA-binding protein that specifically recognize the sequence 5’-YAAC[GT]G-3'.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 0 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Transcription factor	1	8.3×	0.121

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
MYB	Transcription factor	no		SANT/Myb, Homeodomain-like_sf, Tscrpt_reg_Wos2-domain

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
bronchial epithelial cell	1
epithelium of bronchus	1
mucosa of sigmoid colon	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
MYB	183	broad	marker	mucosa of sigmoid colon, bronchial epithelial cell, epithelium of bronchus

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MYB	3,155

Structural data

PDB: 0 · AlphaFold-only: 1 · No structure: 0

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
MYB	P10242	59.16

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 15. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Specification of the neural plate border	1	634.4×	0.023	MYB
Gastrulation	1	259.6×	0.023	MYB
Transcriptional regulation by RUNX1	1	146.4×	0.023	MYB
ESR-mediated signaling	1	128.3×	0.023	MYB
Transcriptional regulation of granulopoiesis	1	125.5×	0.023	MYB
Signaling by Nuclear Receptors	1	102.0×	0.023	MYB
RUNX1 regulates transcription of genes involved in differentiation of HSCs	1	95.2×	0.023	MYB
Estrogen-dependent gene expression	1	75.6×	0.025	MYB
Factors involved in megakaryocyte development and platelet production	1	66.4×	0.025	MYB
Hemostasis	1	36.0×	0.042	MYB
RNA Polymerase II Transcription	1	22.5×	0.061	MYB
Gene expression (Transcription)	1	17.8×	0.070	MYB
Generic Transcription Pathway	1	15.1×	0.074	MYB
Developmental Biology	1	14.5×	0.074	MYB
Signal Transduction	1	10.2×	0.098	MYB

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
positive regulation of hepatic stellate cell proliferation	1	5617.3×	0.002	MYB
positive regulation of testosterone secretion	1	5617.3×	0.002	MYB
myeloid cell development	1	4213.0×	0.002	MYB
negative regulation of hematopoietic progenitor cell differentiation	1	4213.0×	0.002	MYB
skeletal muscle cell proliferation	1	3370.4×	0.002	MYB
positive regulation of hepatic stellate cell activation	1	2808.7×	0.002	MYB
positive regulation of transforming growth factor beta production	1	2106.5×	0.002	MYB
stem cell division	1	1872.4×	0.002	MYB
T-helper 2 cell differentiation	1	1872.4×	0.002	MYB
embryonic digestive tract development	1	991.3×	0.003	MYB
cellular response to interleukin-6	1	991.3×	0.003	MYB
negative regulation of megakaryocyte differentiation	1	887.0×	0.003	MYB
positive regulation of glial cell proliferation	1	702.2×	0.004	MYB
positive regulation of collagen biosynthetic process	1	648.1×	0.004	MYB
spleen development	1	401.2×	0.006	MYB
thymus development	1	337.0×	0.006	MYB
positive regulation of smooth muscle cell proliferation	1	330.4×	0.006	MYB
positive regulation of miRNA transcription	1	290.6×	0.007	MYB
positive regulation of neuron apoptotic process	1	271.8×	0.007	MYB
erythrocyte differentiation	1	267.5×	0.007	MYB
response to ischemia	1	251.5×	0.007	MYB
cellular response to hydrogen peroxide	1	234.1×	0.007	MYB
cellular response to retinoic acid	1	234.1×	0.007	MYB
B cell differentiation	1	218.9×	0.007	MYB
G1/S transition of mitotic cell cycle	1	200.6×	0.007	MYB
calcium ion transport	1	181.2×	0.007	MYB
cellular response to leukemia inhibitory factor	1	159.0×	0.008	MYB
mitotic cell cycle	1	133.8×	0.009	MYB
response to hypoxia	1	95.8×	0.013	MYB
in utero embryonic development	1	72.0×	0.016	MYB

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
MYB	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
MYB	7	Binding:7

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Drug repurposing candidates

0 approved/phased drugs hit cohort targets but don’t yet appear in disease-level clinical trials. Target-inhibition rationale is strongest for cancer driver genes; a bioactivity hit is a screening signal, not a treatment claim.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	MYB

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
MYB	7	—

Clinical trials & evidence

Clinical trials

Clinical trials: 2.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE4	1
PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03975829	PHASE4	RECRUITING	Pediatric Long-Term Follow-up and Rollover Study
NCT02684058	PHASE2	COMPLETED	Study of Efficacy and Safety of Dabrafenib in Combination With Trametinib in Pediatric Patients With BRAF V600 Mutation Positive LGG or Relapsed or Refractory HGG Tumors

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
DABRAFENIB	4	2
TRAMETINIB	4	2
CHEMBL5433950	0	2