Desmoid tumor

Summary

Desmoid tumor (MONDO:0007608) is a cancer caused by APC (GenCC Definitive), with 2 cohort genes (2 CIViC-evidence somatic drivers; 3 ClinVar predisposition records) and 50 clinical trials. Molecularly, APC Mutation OR CTNNB1 Activating Mutation confers sensitivity to Nirogacestat in Desmoid Tumor (CIViC Level A); 4 further subtype–drug associations are mapped below. Top therapeutic interventions include nirogacestat, sorafenib, and toremifene.

At a glance

• Classification: Cancer
• Prevalence: 1-9 / 1 000 000 (Europe) [Orphanet-validated]
• Causal gene: APC (GenCC Definitive)
• Cohort genes: 2
• ClinVar variants: 3
• Phenotypes (HPO): 20
• Clinical trials: 50
• Precision-medicine evidence (CIViC): 5 subtype–drug associations

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Annual incidence	1-9 / 1 000 000	0.3	Europe	Validated
Annual incidence	1-9 / 1 000 000	0.33	Finland	Not yet validated

Signs & symptoms

Clinical features (HPO)

20 HPO clinical features (Orphanet curated; top 20 by frequency):

HPO ID	Term	Frequency
HP:0001482	Subcutaneous nodule	Very frequent (80-99%)
HP:0003011	Abnormality of the musculature	Very frequent (80-99%)
HP:0004298	Abnormality of the abdominal wall	Very frequent (80-99%)
HP:0010614	Fibroma	Very frequent (80-99%)
HP:0100245	Desmoid tumors	Very frequent (80-99%)
HP:0002024	Malabsorption	Frequent (30-79%)
HP:0002027	Abdominal pain	Frequent (30-79%)
HP:0003326	Myalgia	Frequent (30-79%)
HP:0007703	Abnormality of retinal pigmentation	Frequent (30-79%)
HP:0200008	Intestinal polyposis	Frequent (30-79%)
HP:0000126	Hydronephrosis	Occasional (5-29%)
HP:0001376	Limitation of joint mobility	Occasional (5-29%)
HP:0002239	Gastrointestinal hemorrhage	Occasional (5-29%)
HP:0002797	Osteolysis	Occasional (5-29%)
HP:0002829	Arthralgia	Occasional (5-29%)
HP:0005214	Intestinal obstruction	Occasional (5-29%)
HP:0008069	Neoplasm of the skin	Occasional (5-29%)
HP:0010935	Abnormality of the upper urinary tract	Occasional (5-29%)
HP:0100749	Chest pain	Occasional (5-29%)
HP:0100806	Sepsis	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	desmoid tumor
Mondo ID	MONDO:0007608
EFO	EFO:0009907
MeSH	D018222
OMIM	135290
Orphanet	873
DOID	DOID:0080366
NCIT	C9182
UMLS	C0079218
MedGen	38187
GARD	0001820
NORD	1049
Is cancer (heuristic)	yes

Also known as: aggressive fibromatosis · deep fibromatosis · deep fibromatosis/desmoid tumor · deep fibromatosis/desmoid tumour · desmoid disorder, hereditary · desmoid fibromatosis · desmoid tumor · desmoid type fibromatosis · desmoid-type fibromatosis · desmoid/aggressive fibromatosis · familial infiltrative fibromatosis · FIF

Data availability: 3 ClinVar variants · 2 GenCC gene-disease records · 2 cell lines.

Disease family

An umbrella term covering 1 Mondo subtype.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › mesenchymal cell neoplasm › fibroblastic neoplasm › fibromatosis › desmoid tumor

Related subtypes (2): inherited torticollis, superficial Fibromatosis

Subtypes (1): desmoid tumor caused by somatic mutation

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

3 retrieved; paginated sample, class counts are floors:

1 pathogenic, 1 likely pathogenic, 1 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1049076	NM_000038.6(APC):c.-2_136-2903del	APC	Pathogenic	no assertion criteria provided
92347	NM_000038.6(APC):c.4473dup (p.Ala1492fs)	APC	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
17580	NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala)	CTNNB1	Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 15 · Orphanet: 17 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Somatic driver evidence (intOGen + CIViC, cohort fanout)

Gene	intOGen role	Cancer types	CIViC
CTNNB1	Act	ACC,COAD,COADREAD,ESCA,HCC,LIHB,LUAD,MBL,MEL,NSCLC,OVT,PAST,PRAD,PROSTATE,RMS,SKIN,SOFT_TISSUE,STAD,UCEC,WT	CIViC #1290
APC	LoF	AML,ANSC,CHOL,COAD,COADREAD,CSCC,EGC,ESCA,ESCC,HCC,LUAD,MEL,MT,NETNOS,NSCLC,PRAD,PROSTATE,READ,STAD,STOMACH,UM,VULVA	CIViC #66

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
APC	Definitive	Autosomal dominant	desmoid tumor	15

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CTNNB1	Orphanet:1501	Adrenocortical carcinoma
CTNNB1	Orphanet:210159	Adult hepatocellular carcinoma
CTNNB1	Orphanet:2780	Osteopathia striata-cranial sclerosis syndrome
CTNNB1	Orphanet:33402	Pediatric hepatocellular carcinoma
CTNNB1	Orphanet:404473	Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome
CTNNB1	Orphanet:54595	Craniopharyngioma
CTNNB1	Orphanet:569248	Microcystic stromal tumor
CTNNB1	Orphanet:689430	Adenoid ameloblastoma
CTNNB1	Orphanet:873	Desmoid tumor
CTNNB1	Orphanet:891	Familial exudative vitreoretinopathy
CTNNB1	Orphanet:91414	Pilomatrixoma
CTNNB1	Orphanet:952	Acrofacial dysostosis, Weyers type
APC	Orphanet:220460	Attenuated familial adenomatous polyposis
APC	Orphanet:261584	5q22 microdeletion syndrome
APC	Orphanet:314022	Gastric adenocarcinoma and proximal polyposis of the stomach
APC	Orphanet:3258	Cenani-Lenz syndrome
APC	Orphanet:873	Desmoid tumor

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
CTNNB1	HGNC:2514	ENSG00000168036	P35222	Catenin beta-1	clinvar,civic_evidence
APC	HGNC:583	ENSG00000134982	P25054	Adenomatous polyposis coli protein	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CTNNB1	Catenin beta-1	Key downstream component of the canonical Wnt signaling pathway.
APC	Adenomatous polyposis coli protein	Tumor suppressor.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 2 · 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
Other/Unknown	2	1.8×	0.312

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
CTNNB1	Other/Unknown	no		Armadillo, ARM-like, Beta-catenin
APC	Other/Unknown	no		Armadillo, APC_rpt, SAMP

Expression context

Cohort genes with no expression data: 0.

2 cohort genes 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)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
adrenal tissue	1
periodontal ligament	1
ventricular zone	1
medial globus pallidus	1
substantia nigra pars compacta	1
substantia nigra pars reticulata	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CTNNB1	295	ubiquitous	marker	adrenal tissue, ventricular zone, periodontal ligament
APC	297	ubiquitous	marker	substantia nigra pars compacta, substantia nigra pars reticulata, medial globus pallidus

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CTNNB1	15,668
APC	2,903

Intra-cohort edges

A	B	Sources
APC	CTNNB1	intact, string_interaction

Structural data

PDB: 2 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
CTNNB1	P35222	50
APC	P25054	31

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 67. Enrichment computed across 2 evidence-associated genes (2 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 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Signaling by GSK3beta mutants	2	761.3×	2e-05	CTNNB1, APC
CTNNB1 S33 mutants aren’t phosphorylated	2	761.3×	2e-05	CTNNB1, APC
CTNNB1 S37 mutants aren’t phosphorylated	2	761.3×	2e-05	CTNNB1, APC
CTNNB1 S45 mutants aren’t phosphorylated	2	761.3×	2e-05	CTNNB1, APC
CTNNB1 T41 mutants aren’t phosphorylated	2	761.3×	2e-05	CTNNB1, APC
Beta-catenin phosphorylation cascade	2	671.8×	2e-05	CTNNB1, APC
Disassembly of the destruction complex and recruitment of AXIN to the membrane	2	356.9×	7e-05	CTNNB1, APC
Deactivation of the beta-catenin transactivating complex	2	233.1×	2e-04	CTNNB1, APC
Degradation of beta-catenin by the destruction complex	2	173.0×	2e-04	CTNNB1, APC
TCF dependent signaling in response to WNT	2	117.7×	5e-04	CTNNB1, APC
APC truncation mutants are not K63 polyubiquitinated	1	5710.0×	0.001	APC
LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production	1	1142.0×	0.005	CTNNB1
CDH11 homotypic and heterotypic interactions	1	815.7×	0.006	CTNNB1
Regulation of CDH19 Expression and Function	1	713.8×	0.006	CTNNB1
InlA-mediated entry of Listeria monocytogenes into host cells	1	634.4×	0.006	CTNNB1
Binding of TCF/LEF:CTNNB1 to target gene promoters	1	571.0×	0.006	CTNNB1
RUNX3 regulates WNT signaling	1	571.0×	0.006	CTNNB1
Apoptotic cleavage of cell adhesion proteins	1	519.1×	0.006	CTNNB1
Signaling by AXIN mutants	1	519.1×	0.006	APC
Signaling by CTNNB1 phospho-site mutants	1	519.1×	0.006	APC
Signaling by APC mutants	1	519.1×	0.006	APC
Signaling by AMER1 mutants	1	519.1×	0.006	APC
Regulation of CDH11 function	1	519.1×	0.006	CTNNB1
Regulation of CDH1 Function	1	475.8×	0.006	CTNNB1
APC truncation mutants have impaired AXIN binding	1	407.9×	0.006	APC
AXIN missense mutants destabilize the destruction complex	1	407.9×	0.006	APC
Truncations of AMER1 destabilize the destruction complex	1	407.9×	0.006	APC
Formation of axial mesoderm	1	407.9×	0.006	CTNNB1
Formation of definitive endoderm	1	356.9×	0.006	CTNNB1
Germ layer formation at gastrulation	1	335.9×	0.007	CTNNB1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
cell fate specification	2	526.6×	6e-04	CTNNB1, APC
glial cell fate determination	1	8426.0×	0.002	CTNNB1
canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation	1	8426.0×	0.002	CTNNB1
cranial ganglion development	1	8426.0×	0.002	CTNNB1
neural plate development	1	4213.0×	0.002	CTNNB1
negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis	1	4213.0×	0.002	CTNNB1
regulation of centriole-centriole cohesion	1	4213.0×	0.002	CTNNB1
negative regulation of mitotic cell cycle, embryonic	1	4213.0×	0.002	CTNNB1
regulation of timing of anagen	1	4213.0×	0.002	CTNNB1
positive regulation of branching involved in lung morphogenesis	1	4213.0×	0.002	CTNNB1
renal vesicle formation	1	4213.0×	0.002	CTNNB1
renal inner medulla development	1	4213.0×	0.002	CTNNB1
renal outer medulla development	1	4213.0×	0.002	CTNNB1
nephron tubule formation	1	4213.0×	0.002	CTNNB1
regulation of nephron tubule epithelial cell differentiation	1	4213.0×	0.002	CTNNB1
mesenchymal stem cell differentiation	1	4213.0×	0.002	CTNNB1
positive regulation of determination of dorsal identity	1	4213.0×	0.002	CTNNB1
negative regulation of canonical Wnt signaling pathway	2	117.8×	0.002	CTNNB1, APC
astrocyte-dopaminergic neuron signaling	1	2808.7×	0.003	CTNNB1
regulation of fibroblast proliferation	1	2808.7×	0.003	CTNNB1
oviduct development	1	2808.7×	0.003	CTNNB1
lung induction	1	2808.7×	0.003	CTNNB1
positive regulation of epithelial cell proliferation involved in prostate gland development	1	2808.7×	0.003	CTNNB1
fungiform papilla formation	1	2808.7×	0.003	CTNNB1
regulation of centromeric sister chromatid cohesion	1	2808.7×	0.003	CTNNB1
positive regulation of apoptotic process	2	56.7×	0.003	CTNNB1, APC
proteasome-mediated ubiquitin-dependent protein catabolic process	2	52.2×	0.003	CTNNB1, APC
regulation of secondary heart field cardioblast proliferation	1	2106.5×	0.003	CTNNB1
metanephros morphogenesis	1	2106.5×	0.003	CTNNB1
positive regulation of heparan sulfate proteoglycan biosynthetic process	1	2106.5×	0.003	CTNNB1

Therapeutics

Drugs indicated for this disease

0 approved, 3 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Doxorubicin	Phase 3 (in late-stage trials)
Nirogacestat	Phase 3 (in late-stage trials)
Sodium Chloride	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Aminolevulinic Acid, Hydroxyurea, Imatinib, Methotrexate, Sulindac, Toremifene.

Drug target analysis

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

Druggability breadth: 2 of 2 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
CTNNB1	DITHIAZANINE IODIDE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
CTNNB1	4	4
APC	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
DITHIAZANINE IODIDE	4	CTNNB1
QUERCETIN	3	CTNNB1
SALINOMYCIN	2	CTNNB1
DALOSIRVAT	2	CTNNB1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
CTNNB1	361	Binding:358, Functional:3
APC	24	Binding:24

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
CTNNB1	361

Pharmacogenomics

Cohort genes with a PharmGKB record: 2; with CPIC/DPWG dosing guidelines: 0.

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

Drug repurposing candidates

4 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)
DITHIAZANINE IODIDE	4	CTNNB1
QUERCETIN	3	CTNNB1
SALINOMYCIN	2	CTNNB1
DALOSIRVAT	2	CTNNB1

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	CTNNB1
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	APC

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)
APC	24	CTNNB1

Clinical trials & evidence

Clinical trials

Clinical trials: 50.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	21
PHASE2	16
PHASE1/PHASE2	5
PHASE3	3
PHASE1	2
PHASE4	1
PHASE2/PHASE3	1
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07176689	PHASE4	RECRUITING	Nirogacestat in Premenopausal Females With Desmoid Tumor/Aggressive Fibromatosis (DT/AF)
NCT04871282	PHASE2/PHASE3	ACTIVE_NOT_RECRUITING	A Study of AL102 in Patients With Progressing Desmoid Tumors
NCT02066181	PHASE3	COMPLETED	Sorafenib Tosylate in Treating Patients With Desmoid Tumors or Aggressive Fibromatosis
NCT03785964	PHASE3	COMPLETED	Nirogacestat for Adults With Desmoid Tumor/Aggressive Fibromatosis (DT/AF)
NCT05561036	PHASE3	UNKNOWN	A Randomized, Double-blind,Phase Ⅲ Study of Liposome Doxorubicin in Desmoid Tumor
NCT02834013	PHASE2	ACTIVE_NOT_RECRUITING	Nivolumab and Ipilimumab in Treating Patients With Rare Tumors
NCT04195399	PHASE2	ACTIVE_NOT_RECRUITING	A Study of a New Drug, Nirogacestat, for Treating Desmoid Tumors That Cannot be Removed by Surgery
NCT04851119	PHASE1/PHASE2	RECRUITING	Tegavivint for the Treatment of Recurrent or Refractory Solid Tumors, Including Lymphomas and Desmoid Tumors
NCT05949099	PHASE2	RECRUITING	Study of Cryoablation and Nirogacestat for Desmoid Tumor
NCT07170644	PHASE2	ACTIVE_NOT_RECRUITING	A Study of Nirogacestat in Japanese Adults With Desmoid Tumors/Aggressive Fibromatosis (DT/AF)
NCT07541430	PHASE2	RECRUITING	A Study in Adults With Desmoid Tumors
NCT00002595	PHASE2	COMPLETED	Toremifene in Treating Patients With Desmoid Tumors
NCT00003019	PHASE2	COMPLETED	Vinblastine and Methotrexate in Treating Children With Desmoid Tumors
NCT00030680	PHASE2	COMPLETED	Radiation Therapy in Treating Patients With Aggressive Fibromatoses
NCT00068419	PHASE2	COMPLETED	Sulindac and Tamoxifen in Treating Patients With Desmoid Tumor
NCT00287846	PHASE1/PHASE2	COMPLETED	Imatinib Mesylate in Treating Patients With Recurrent or Refractory Fibromatosis
NCT00474994	PHASE2	COMPLETED	Sunitinib in Treating Patients With Metastatic, Locally Advanced, or Locally Recurrent Sarcomas
NCT00928525	PHASE2	COMPLETED	Imatinib in Patients With Desmoid Tumor and Chondrosarcoma
NCT00978146	PHASE2	WITHDRAWN	Effect of Hydroxyurea as Treatment for Primary Desmoid Tumors
NCT01137916	PHASE2	COMPLETED	Study to Evaluate Imatinib in Desmoid Tumors
NCT01265030	PHASE1/PHASE2	COMPLETED	A Pilot Study Evaluating the Use of mTor Inhibitor Sirolimus in Children and Young Adults With Desmoid-Type Fibromatosis
NCT01981551	PHASE2	COMPLETED	Phase II Trial of the Gamma-Secretase Inhibitor PF-03084014 in Adults With Desmoid Tumors/Aggressive Fibromatosis
NCT02353429	PHASE2	UNKNOWN	Toremifene in Desmoid Tumor: Prospective Clinical Trial and Identification of Potential Molecular Targets
NCT03190174	PHASE1/PHASE2	COMPLETED	Nivolumab (Opdivo®) Plus ABI-009 (Nab-rapamycin) for Advanced Sarcoma and Certain Cancers
NCT03802084	PHASE1/PHASE2	COMPLETED	A Study to Evaluate the Safety and Efficacy of Vactosertib and Imatinib in Patients With Advanced Desmoid Tumor
NCT03966742	PHASE2	COMPLETED	Doxorubicin Eluting Intra-arterial Embolization for Aggressive Desmoid Fibromatosis
NCT02076906	PHASE1	COMPLETED	MR-guided High Intensity Focused Ultrasound (HIFU) on Pediatric Solid Tumors
NCT03459469	PHASE1	COMPLETED	Phase I, Open-label, Non-randomized Study to Evaluate Safety of BC2059
NCT02374931	EARLY_PHASE1	TERMINATED	18F-FES PET/CT in Imaging Patients With Desmoid Tumors
NCT02402244	Not specified	RECRUITING	Project: Every Child for Younger Patients With Cancer
NCT02867033	Not specified	ACTIVE_NOT_RECRUITING	National Clinical-biological Prospective Cohort of Incident Cases of Aggressive Fibromatosis (ALTITUDES)
NCT04281381	Not specified	RECRUITING	Observing People With Desmoid-Type Fibromatosis
NCT05041036	Not specified	AVAILABLE	Individual Patient Compassionate Use of Nirogacestat
NCT05111964	Not specified	RECRUITING	HIFU Ablation of Soft Tissue Sarcoma
NCT06081400	Not specified	RECRUITING	Cryoablation Versus Medical Therapy in Desmoid Tumors Progressing After Watchful Waiting
NCT06355921	Not specified	NOT_YET_RECRUITING	A Prospective Clinical Study on the Safety and Efficacy of Radiofrequency Ablation for the Treatment of Patients With Desmoid Tumors
NCT06945887	Not specified	RECRUITING	Treatment of Desmoid Fibromatosis With Arterial Embolization
NCT07461246	Not specified	ACTIVE_NOT_RECRUITING	Familial Adenomatous Poliposys Italian Network (Rete Italiana Poliposi Adenomatosa Familiare)
NCT07496242	Not specified	RECRUITING	Immunological Phenotype of Desmoid-fibromatosis-affected Patients.
NCT00919269	Not specified	COMPLETED	Collecting and Storing Tissue, Blood, and Bone Marrow Samples From Patients With Rhabdomyosarcoma or Other Soft Tissue Sarcoma

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
NIROGACESTAT	4	7
SORAFENIB	4	3
TOREMIFENE	4	2
FLUOROESTRADIOL F-18	4	1
HYDROXYUREA	4	1
SULINDAC	4	1
SUNITINIB MALATE	4	1
VINBLASTINE SULFATE	4	1
TEGAVIVINT	2	2
VACTOSERTIB	2	1
CHEMBL4752424	0	2
CHEMBL6083129	0	2
CHEMBL376464	0	1
CHEMBL3109278	0	1
CHEMBL5267324	0	1

Precision-medicine subtype map (CIViC)

Drug × molecular subtype: 5 predictive associations from 5 curated evidence items; also 8 diagnostic, 5 prognostic.

Molecular subtype	Therapy	Effect	Level	CIViC
APC Mutation OR CTNNB1 Activating Mutation	Nirogacestat	Sensitivity/Response	CIViC A	EID12023
CTNNB1 S45F	Imatinib	Sensitivity/Response	CIViC B	EID11018
CTNNB1 T41A	Meloxicam	Sensitivity/Response	CIViC B	EID6050
CTNNB1 S45F	Meloxicam	Sensitivity/Response	CIViC C	EID6049
CTNNB1 T41A	Celecoxib	Sensitivity/Response	CIViC C	EID6048