Astrocytic tumor

Summary

Astrocytic tumor (MONDO:0021636) is a cancer (an umbrella term covering 8 Mondo subtypes) with 1 cohort gene (1 CIViC-evidence somatic driver; 1 ClinVar predisposition record) and 99 clinical trials. Top therapeutic interventions include imatinib, temozolomide, and aminolevulinic acid.

At a glance

• Classification: Cancer
• Prevalence: 1-9 / 100 000 (Europe) [Orphanet-validated]
• Umbrella term: 8 Mondo subtypes
• Cohort genes: 1
• ClinVar variants: 1
• Clinical trials: 99

Clinical features

Epidemiology

Prevalence records

25 prevalence record(s), Orphanet, top 20 (validated / broadest geography first):

Type	Class	Value	Geography	Validation
Annual incidence	1-9 / 100 000	4.8	Europe	Validated
Point prevalence	1-9 / 100 000	2.5	Europe	Validated
Annual incidence	1-9 / 100 000	4.909	Austria	Validated
Annual incidence	1-9 / 100 000	5.777	Belgium	Validated
Annual incidence	1-9 / 100 000	3.768	Bulgaria	Validated
Annual incidence	1-9 / 100 000	4.184	Croatia	Validated
Annual incidence	1-9 / 100 000	4.251	Czech Republic	Validated
Annual incidence	1-9 / 100 000	4.443	Estonia	Validated
Annual incidence	1-9 / 100 000	5.263	Finland	Validated
Annual incidence	1-9 / 100 000	5.829	Germany	Validated
Annual incidence	1-9 / 100 000	5.538	Iceland	Validated
Annual incidence	1-9 / 100 000	5.147	Ireland	Validated
Annual incidence	1-9 / 100 000	4.786	Italy	Validated
Annual incidence	1-9 / 100 000	3.632	Latvia	Validated
Annual incidence	1-9 / 100 000	4.801	Lithuania	Validated
Annual incidence	1-9 / 100 000	3.392	Malta	Validated
Annual incidence	1-9 / 100 000	5.78	Norway	Validated
Annual incidence	1-9 / 100 000	3.543	Poland	Validated
Annual incidence	1-9 / 100 000	3.931	Portugal	Validated
Annual incidence	1-9 / 100 000	3.707	Slovakia	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	astrocytic tumor
Mondo ID	MONDO:0021636
Orphanet	94
DOID	DOID:3069
NCIT	C6958
GARD	0012928
MedDRA	10003571
Is cancer (heuristic)	yes

Also known as: astrocytic neoplasm · astrocytic tumor · astrocytoma · astrocytoma of cerebrum · astrocytoma, no ICD-O subtype · astroglioma

Data availability: 1 ClinVar variant · 209 cell lines.

Disease family

An umbrella term covering 8 Mondo subtypes.

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

Related subtypes (8): nerve sheath neoplasm, ependymal tumor, mixed glioma, optic pathway glioma, astroblastoma, low grade glioma, malignant glioma, diffuse glioma, H3 G34 mutant

Subtypes (8): adult astrocytic tumor, childhood astrocytic tumor, gliofibroma, high grade astrocytic tumor, astrocytoma (excluding glioblastoma), low grade astrocytic tumor, anaplastic pleomorphic xanthoastrocytoma, infant-type hemispheric glioma

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

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
181503	NM_002834.5(PTPN11):c.1471C>G (p.Pro491Ala)	PTPN11	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 4 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Somatic driver evidence (intOGen + CIViC, cohort fanout)

Gene	intOGen role	Cancer types	CIViC
PTPN11	Act	ALL,AML,CLLSLL,COADREAD,GBM,LGGNOS,NBL,PAST,PCM	CIViC #4685

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
PTPN11	Orphanet:2499	Metachondromatosis
PTPN11	Orphanet:500	Noonan syndrome with multiple lentigines
PTPN11	Orphanet:648	Noonan syndrome
PTPN11	Orphanet:86834	Juvenile myelomonocytic leukemia

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
PTPN11	HGNC:9644	ENSG00000179295	Q06124	Tyrosine-protein phosphatase non-receptor type 11	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
PTPN11	Tyrosine-protein phosphatase non-receptor type 11	Acts downstream of various receptor and cytoplasmic protein tyrosine kinases to participate in the signal transduction from the cell surface to the nucleus.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

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
Phosphatase	1	83.9×	0.012

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
PTPN11	Phosphatase	yes	3.1.3.48	PTP_cat, Tyr_Pase_dom, SH2

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
dorsal motor nucleus of vagus nerve	1
globus pallidus	1
medial globus pallidus	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
PTPN11	295	ubiquitous	marker	medial globus pallidus, dorsal motor nucleus of vagus nerve, globus pallidus

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
PTPN11	6,009

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
PTPN11	Q06124	115

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 52. 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
MET activates PTPN11	1	2284.0×	0.003	PTPN11
Co-inhibition by BTLA	1	2284.0×	0.003	PTPN11
STAT5 Activation	1	1631.4×	0.003	PTPN11
Netrin mediated repulsion signals	1	1268.9×	0.003	PTPN11
MAPK1 (ERK2) activation	1	1142.0×	0.003	PTPN11
STAT5 activation downstream of FLT3 ITD mutants	1	1142.0×	0.003	PTPN11
MAPK3 (ERK1) activation	1	1038.2×	0.003	PTPN11
Signaling by Leptin	1	1038.2×	0.003	PTPN11
Interleukin-6 signaling	1	951.7×	0.003	PTPN11
Activated NTRK2 signals through FRS2 and FRS3	1	951.7×	0.003	PTPN11
PECAM1 interactions	1	878.5×	0.003	PTPN11
Regulation of IFNG signaling	1	815.7×	0.003	PTPN11
Prolactin receptor signaling	1	761.3×	0.003	PTPN11
Signaling by FLT3 ITD and TKD mutants	1	761.3×	0.003	PTPN11
Spry regulation of FGF signaling	1	713.8×	0.003	PTPN11
Signal regulatory protein family interactions	1	671.8×	0.003	PTPN11
Platelet sensitization by LDL	1	671.8×	0.003	PTPN11
Regulation of RUNX1 Expression and Activity	1	671.8×	0.003	PTPN11
GAB1 signalosome	1	634.4×	0.003	PTPN11
PI-3K cascade:FGFR3	1	634.4×	0.003	PTPN11
Tie2 Signaling	1	601.0×	0.003	PTPN11
Activation of IRF3, IRF7 mediated by TBK1, IKKε (IKBKE)	1	601.0×	0.003	PTPN11
PI-3K cascade:FGFR4	1	571.0×	0.003	PTPN11
Signaling by CSF3 (G-CSF)	1	571.0×	0.003	PTPN11
FRS-mediated FGFR3 signaling	1	543.8×	0.003	PTPN11
Co-inhibition by CTLA4	1	519.1×	0.003	PTPN11
Co-inhibition by PD-1	1	519.1×	0.003	PTPN11
PI-3K cascade:FGFR1	1	519.1×	0.003	PTPN11
Interleukin-37 signaling	1	519.1×	0.003	PTPN11
PI-3K cascade:FGFR2	1	496.5×	0.003	PTPN11

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
negative regulation of cortisol secretion	1	16852.0×	0.002	PTPN11
negative regulation of growth hormone secretion	1	16852.0×	0.002	PTPN11
microvillus organization	1	8426.0×	0.002	PTPN11
intestinal epithelial cell migration	1	8426.0×	0.002	PTPN11
cerebellar cortex formation	1	5617.3×	0.002	PTPN11
regulation of type I interferon-mediated signaling pathway	1	4213.0×	0.002	PTPN11
ERBB signaling pathway	1	3370.4×	0.002	PTPN11
negative regulation of neutrophil activation	1	2407.4×	0.003	PTPN11
positive regulation of hormone secretion	1	1685.2×	0.003	PTPN11
genitalia development	1	1685.2×	0.003	PTPN11
positive regulation of lipopolysaccharide-mediated signaling pathway	1	1532.0×	0.003	PTPN11
atrioventricular canal development	1	1532.0×	0.003	PTPN11
regulation of protein export from nucleus	1	1532.0×	0.003	PTPN11
Bergmann glial cell differentiation	1	1532.0×	0.003	PTPN11
negative regulation of cell adhesion mediated by integrin	1	1296.3×	0.003	PTPN11
neurotrophin TRK receptor signaling pathway	1	1053.2×	0.003	PTPN11
positive regulation of ossification	1	936.2×	0.003	PTPN11
peptidyl-tyrosine dephosphorylation	1	887.0×	0.003	PTPN11
hormone metabolic process	1	887.0×	0.003	PTPN11
positive regulation of insulin receptor signaling pathway	1	842.6×	0.003	PTPN11
organ growth	1	732.7×	0.003	PTPN11
regulation of protein-containing complex assembly	1	732.7×	0.003	PTPN11
platelet formation	1	702.2×	0.003	PTPN11
megakaryocyte development	1	702.2×	0.003	PTPN11
negative regulation of chondrocyte differentiation	1	674.1×	0.003	PTPN11
positive regulation of intracellular signal transduction	1	648.1×	0.003	PTPN11
platelet-derived growth factor receptor signaling pathway	1	561.7×	0.004	PTPN11
negative regulation of T cell activation	1	526.6×	0.004	PTPN11
negative regulation of type I interferon production	1	495.6×	0.004	PTPN11
negative regulation of insulin secretion	1	495.6×	0.004	PTPN11

Therapeutics

Drug target analysis

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

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

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
PTPN11	ESTRAMUSTINE PHOSPHATE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
PTPN11	8	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
ESTRAMUSTINE PHOSPHATE	4	PTPN11
ENOXOLONE	2	PTPN11
CEFSULODIN	2	PTPN11
BATOPROTAFIB	2	PTPN11
VOCIPROTAFIB	2	PTPN11
JAB-3068	1	PTPN11
PF-07284892	1	PTPN11
BBP-398	1	PTPN11

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
PTPN11	588	Binding:585, Functional:2, ADMET:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
PTPN11	3.1.3.48	protein-tyrosine-phosphatase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
PTPN11	588

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

8 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.

Compound	Max phase	Cohort target (bioactivity)
ESTRAMUSTINE PHOSPHATE	4	PTPN11
ENOXOLONE	2	PTPN11
CEFSULODIN	2	PTPN11
BATOPROTAFIB	2	PTPN11
VOCIPROTAFIB	2	PTPN11
JAB-3068	1	PTPN11
PF-07284892	1	PTPN11
BBP-398	1	PTPN11

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	PTPN11
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	0

Undrugged target profiles

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

Clinical trials & evidence

Clinical trials

Clinical trials: 99.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	32
PHASE2	24
PHASE1	23
PHASE1/PHASE2	7
PHASE3	6
EARLY_PHASE1	6
PHASE4	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03975829	PHASE4	RECRUITING	Pediatric Long-Term Follow-up and Rollover Study
NCT01649830	PHASE3	RECRUITING	Efficacy of Post-radiation Adjuvant Temozolomide Chemotherapy in Residue Low-grade Glioma
NCT00154375	PHASE3	COMPLETED	Study of Imatinib Mesylate in Combination With Hydroxyurea Versus Hydroxyurea Alone as an Oral Therapy in Patients With Temozolomide Resistant Progressive Glioblastoma
NCT00335075	PHASE3	COMPLETED	Efficacy and Safety of Temodal vs Semustine in Subjects With Recurrent Glioblastoma or Anaplastic Astrocytoma (Study P03644)
NCT00897377	PHASE3	TERMINATED	Treatment Strategy for Low-grade Gliomas
NCT01655927	PHASE3	UNKNOWN	Efficacy of Tranexamic Acid in Brain Tumor Resections
NCT03722355	PHASE3	COMPLETED	Hyperfractionated RT With BCNU Versus Conventional RT With BCNU for Supratentorial Malignant Glioma
NCT05345002	PHASE2	RECRUITING	All-Trans Retinoic Acid (ATRA) Plus PD-1 Inhibition in Recurrent IDH-Mutant Glioma
NCT05683808	PHASE2	RECRUITING	Venous Thromboembolism Prevention in Outpatients With Glioma
NCT06161974	PHASE2	RECRUITING	Study of Olutasidenib and Temozolomide in HGG
NCT06776250	PHASE2	RECRUITING	Study of How Safe and Effective Tarlatamab is in Brain Cancers
NCT07417761	PHASE2	RECRUITING	Tuvusertib in Astrocytoma With ATRX Mutation
NCT07439172	PHASE2	NOT_YET_RECRUITING	Pre-Radiation Chemotherapy for Newly Diagnosed High-Grade Glioma.
NCT00028158	PHASE1/PHASE2	COMPLETED	Safety and Effectiveness Study of G207, a Tumor-Killing Virus, in Patients With Recurrent Brain Cancer
NCT00165360	PHASE2	COMPLETED	Prolonged Daily Temozolomide for Low-Grade Glioma
NCT00179803	PHASE2	COMPLETED	Stem Cell Transplant for High Risk Central Nervous System (CNS) Tumors
NCT00360828	PHASE2	TERMINATED	Phase II Study of Irinotecan HCI for Recurrent Anaplastic Astrocytomas, Mixed Malignant Gliomas, and Oligodendrogliomas
NCT00389090	PHASE2	TERMINATED	A Phase II Study of Temozolomide and O6-Benzylguanine (O6-BG) in Patients With Temozolomide-Resistant Anaplastic Glioma
NCT00392171	PHASE2	COMPLETED	The Effects of Continuous 28-day (28/28) Temozolomide Chemotherapy in Subjects With Recurrent Malignant Glioma Who Have Failed the Conventional 5-day (5/28) Treatment (P04601)
NCT00575887	PHASE2	COMPLETED	Efficacy of Protracted Temozolomide in Patients With Progressive High Grade Glioma
NCT00624728	PHASE1/PHASE2	COMPLETED	Assessment of 18FLT PET-CT for Volume Definition of High-grade Gliomas (GLIO-TEP)
NCT00683761	PHASE1/PHASE2	UNKNOWN	A Study of 131I-TM601 in Adults With Recurrent Malignant Glioma
NCT00782626	PHASE2	COMPLETED	Everolimus (RAD001) for Children With Chemotherapy-Refractory Progressive or Recurrent Low-Grade Gliomas
NCT00783393	PHASE2	COMPLETED	SCH 52365 Phase II Clinical Study: A Study on the Efficacy and Safety of Monotherapy With SCH 52365 in Patients With First Relapsed Anaplastic Astrocytoma (Study P03745)
NCT00921167	PHASE2	COMPLETED	A Study to Evaluate the Efficacy of Bevacizumab Plus Irinotecan in Recurrent Gliomas
NCT01044966	PHASE1/PHASE2	TERMINATED	A Study of Intraventricular Liposomal Encapsulated Ara-C (DepoCyt) in Patients With Recurrent Glioblastoma
NCT01068782	PHASE2	TERMINATED	Multiple Doses and Regimens of Cabozantinib in Subjects With Grade IV Astrocytic Tumors in First or Second Relapse
NCT01125800	PHASE1/PHASE2	COMPLETED	A Phase I Dose Finding and Safety Study of Oral LDE225 in Children and a Phase II Portion to Assess Preliminary Efficacy in Recurrent or Refractory MB
NCT01288235	PHASE2	COMPLETED	Proton Radiotherapy for Pediatric Brain Tumors Requiring Partial Brain Irradiation
NCT01351519	PHASE2	TERMINATED	A Study of Aminolevulinic Acid Used to Enhance Visualization and Surgical Removal of Brain Tumors
NCT02209428	PHASE2	UNKNOWN	A Prospective Cohort to Study the Effect of Temozolomide on IDH Mutational Low Grade Gliomas
NCT02372409	PHASE2	TERMINATED	Using MRI-Guided Laser Heat Ablation to Induce Disruption of the Peritumoral Blood Brain Barrier to Enhance Delivery and Efficacy of Treatment of Pediatric Brain Tumors
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
NCT02942264	PHASE1/PHASE2	TERMINATED	Zotiraciclib (TG02) Plus Dose-Dense or Metronomic Temozolomide Followed by Randomized Phase II Trial of Zotiraciclib (TG02) Plus Temozolomide Versus Temozolomide Alone in Adults With Recurrent Anaplastic Astrocytoma and Glioblastoma
NCT03032484	PHASE2	COMPLETED	TVB- 2640 in Combination With Bevacizumab in Patients With First Relapse of High Grade Astrocytoma
NCT03649464	PHASE1/PHASE2	WITHDRAWN	Investigation of Oral OKN-007 in Recurrent High-grade Glioma Participants
NCT05297864	PHASE2	TERMINATED	PARP Inhibition for Gliomas (PI-4G or π4g)
NCT06439420	PHASE2	COMPLETED	CBT-I in Primary Brain Tumor Patients: Phase IIc Randomized Feasibility Pilot Trial
NCT03152318	PHASE1	ACTIVE_NOT_RECRUITING	A Study of the Treatment of Recurrent Malignant Glioma With rQNestin34.5v.2
NCT03911388	PHASE1	RECRUITING	HSV G207 in Children With Recurrent or Refractory Cerebellar Brain Tumors

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
IMATINIB	4	3
TEMOZOLOMIDE	4	3
AMINOLEVULINIC ACID	4	2
DABRAFENIB	4	2
TRAMETINIB	4	2
CABOZANTINIB	4	1
CARMUSTINE	4	1
HYDROXYUREA	4	1
KETOCONAZOLE	4	1
NIRAPARIB	4	1
OLUTASIDENIB	4	1
RETIFANLIMAB	4	1
SONIDEGIB	4	1
TARLATAMAB	4	1
VORASIDENIB	4	1
6-O-BENZYLGUANINE	3	1
DISUFENTON SODIUM	3	1
SEMUSTINE	3	1
VELIPARIB	3	1
CHLOROTOXIN	2	1
DENIFANSTAT	2	1
HILTONOL	2	1
TUVUSERTIB	2	1
ZOTIRACICLIB	2	1
PF-06840003	1	1
TROTABRESIB	1	1
CHEMBL4228794	0	3
CHEMBL4248195	0	3
CHEMBL5433950	0	2
CHEMBL4215501	0	1