Atypical neurofibroma

Summary

Atypical neurofibroma (MONDO:0003306) is a disease and 4 clinical trials. Top therapeutic interventions include selumetinib. A subtype of neurofibroma — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Clinical trials: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	atypical neurofibroma
Mondo ID	MONDO:0003306
DOID	DOID:5153
NCIT	C41426
UMLS	C1510961
MedGen	267320
GARD	0023441
Is cancer (heuristic)	no

Disease family

This is a subtype of neurofibroma. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › peripheral nervous system disorder › peripheral nervous system neoplasm › nerve sheath neoplasm › neurofibroma › atypical neurofibroma

Related subtypes (10): mediastinum neurofibroma, neurofibroma of spinal cord, Pacinian tumor, neurofibrosarcoma, epithelioid neurofibroma, neurofibroma of gallbladder, plexiform neurofibroma, cellular neurofibroma, neurofibroma of the heart, neurofibroma of the esophagus

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

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 4.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	3
PHASE1/PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06735820	PHASE1/PHASE2	NOT_YET_RECRUITING	Early Phase Study Evaluating MEK and MDM2 Inhibition in Patients With NF1 and MPNST
NCT03820778	Not specified	ACTIVE_NOT_RECRUITING	Whole Body MRI to Identify Atypical Neurofibromas in Patients With NF1
NCT05677594	Not specified	ACTIVE_NOT_RECRUITING	Multi-parametric Biomarker Development to Predict Malignant Conversion in Patients With Neurofibromatosis Type 1
NCT06515860	Not specified	RECRUITING	Neurofibromatosis Type 1 Tumor Early Detection Study

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
SELUMETINIB	4	1
CHEMBL4463209	0	1