Dermatofibrosarcoma protuberans
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Also known as dermatofibrosarcomaDFSPfamilial dermatofibrosarcoma protuberans (subtype)metastatic dermatofibrosarcoma protuberans (subtype)
Summary
Dermatofibrosarcoma protuberans (MONDO:0011934) is a disease with 3 cohort genes and 12 clinical trials. Molecularly, COL1A1::PDGFB Fusion confers sensitivity to Imatinib in Dermatofibrosarcoma Protuberans (CIViC Level A); 6 further subtype–drug associations are mapped below. Top therapeutic interventions include ifosfamide, imatinib, and vismodegib.
At a glance
- Prevalence: 1-5 / 10 000 (Europe) [Orphanet-validated]
- Cohort genes: 3
- ClinVar variants: 4
- Phenotypes (HPO): 8
- Clinical trials: 12
- Precision-medicine evidence (CIViC): 7 subtype–drug associations
Clinical features
Epidemiology
Prevalence records
1 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 10 | Europe | Validated |
Signs & symptoms
Clinical features (HPO)
8 HPO clinical features (Orphanet curated; top 8 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001072 | Thickened skin | Very frequent (80-99%) |
| HP:0001482 | Subcutaneous nodule | Very frequent (80-99%) |
| HP:0008069 | Neoplasm of the skin | Very frequent (80-99%) |
| HP:0010783 | Erythema | Very frequent (80-99%) |
| HP:0100244 | Fibrosarcoma | Very frequent (80-99%) |
| HP:0200042 | Skin ulcer | Frequent (30-79%) |
| HP:0012531 | Pain | Occasional (5-29%) |
| HP:0002716 | Lymphadenopathy | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | dermatofibrosarcoma protuberans |
| Mondo ID | MONDO:0011934 |
| MeSH | D018223 |
| OMIM | 607907 |
| Orphanet | 31112 |
| DOID | DOID:3507 |
| ICD-11 | 1579898301 |
| NCIT | C4683 |
| SNOMED CT | 276799004 |
| UMLS | C3693482 |
| MedGen | 811326 |
| GARD | 0009569 |
| MedDRA | 10057070 |
| Is cancer (heuristic) | no |
Also known as: dermatofibrosarcoma · dermatofibrosarcoma protuberans · DFSP · familial dermatofibrosarcoma protuberans (subtype) · metastatic dermatofibrosarcoma protuberans (subtype)
Data availability: 4 ClinVar variants · 10 cell lines.
Disease family
An umbrella term covering 1 Mondo subtype.
Classification path: disease › human disease › disease by body system or component › integumentary system disorder › integumentary system cancer › dermatofibrosarcoma protuberans
Related subtypes (6): bartholin gland carcinoma, skin cancer, nipple carcinoma, breast adenocarcinoma, atypical lobular breast hyperplasia, breast diffuse large B-cell lymphoma
Subtypes (1): pigmented dermatofibrosarcoma protuberans
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
4 retrieved; paginated sample, class counts are floors:
2 benign/likely benign, 1 pathogenic, 1 benign
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 12599 | PDGFB, PDGFB/COL1A1 FUSION | PDGFB | Pathogenic | no assertion criteria provided |
| 522278 | NM_002608.4(PDGFB):c.670C>T (p.Arg224Trp) | PDGFB | Benign/Likely benign | criteria provided, multiple submitters, no conflicts |
| 522279 | NM_002608.4(PDGFB):c.635C>T (p.Thr212Met) | PDGFB | Benign/Likely benign | criteria provided, multiple submitters, no conflicts |
| 522280 | NM_002608.4(PDGFB):c.160+15C>A | PDGFB | Benign | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 19 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| CDKN2A | Orphanet:1333 | Familial pancreatic carcinoma |
| CDKN2A | Orphanet:1501 | Adrenocortical carcinoma |
| CDKN2A | Orphanet:252206 | Melanoma and neural system tumor syndrome |
| CDKN2A | Orphanet:404560 | Familial atypical multiple mole melanoma syndrome |
| CDKN2A | Orphanet:524 | Li-Fraumeni syndrome |
| CDKN2A | Orphanet:585909 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) |
| CDKN2A | Orphanet:618 | Familial melanoma |
| CDKN2A | Orphanet:99861 | Precursor T-cell acute lymphoblastic leukemia |
| PDGFRB | Orphanet:168950 | Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement |
| PDGFRB | Orphanet:1980 | Bilateral striopallidodentate calcinosis |
| PDGFRB | Orphanet:2591 | Infantile myofibromatosis |
| PDGFRB | Orphanet:314950 | Primary hypereosinophilic syndrome |
| PDGFRB | Orphanet:363665 | Acroosteolysis-keloid-like lesions-premature aging syndrome |
| PDGFRB | Orphanet:477831 | Kosaki overgrowth syndrome |
| PDGFRB | Orphanet:86830 | Chronic myeloproliferative disease, unclassifiable |
| PDGFB | Orphanet:1980 | Bilateral striopallidodentate calcinosis |
| PDGFB | Orphanet:2495 | Meningioma |
| PDGFB | Orphanet:263662 | Familial multiple meningioma |
| PDGFB | Orphanet:31112 | Dermatofibrosarcoma protuberans |
Cohort genes → proteins
3 cohort genes, 3 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| civic_only | 2 |
| multi_evidence | 1 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| CDKN2A | HGNC:1787 | ENSG00000147889 | P42771 | Cyclin-dependent kinase inhibitor 2A | civic_evidence |
| PDGFRB | HGNC:8804 | ENSG00000113721 | P09619 | Platelet-derived growth factor receptor beta | civic_evidence |
| PDGFB | HGNC:8800 | ENSG00000100311 | P01127 | Platelet-derived growth factor subunit B | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| CDKN2A | Cyclin-dependent kinase inhibitor 2A | Acts as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6. |
| PDGFRB | Platelet-derived growth factor receptor beta | Tyrosine-protein kinase that acts as a cell-surface receptor for homodimeric PDGFB and PDGFD and for heterodimers formed by PDGFA and PDGFB, and plays an essential role in the regulation of embryonic development, cell proliferation, surviv… |
| PDGFB | Platelet-derived growth factor subunit B | Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. |
Protein-family classification
Druggable: 1 · Difficult: 1 · Unknown: 1 · Druggable fraction: 0.33
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 |
|---|---|---|---|
| Kinase | 1 | 9.2× | 0.246 |
| Scaffold/PPI | 1 | 5.8× | 0.246 |
| Other/Unknown | 1 | 0.6× | 0.914 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| CDKN2A | Scaffold/PPI | no | Ankyrin_rpt-contain_sf, Ank_Repeat/CDKN_Inhibitor, Tumor_suppres_ARF | |
| PDGFRB | Kinase | yes | 2.7.10.1 | Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, Tyr_kinase_rcpt_3_CS |
| PDGFB | Other/Unknown | no | PDGF/VEGF_dom, PDGF_N, PD_growth_factor_CS |
Expression context
Cohort genes with no expression data: 0.
3 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) | 3 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| cervix squamous epithelium | 1 |
| parotid gland | 1 |
| pituitary gland | 1 |
| endocervix | 1 |
| right coronary artery | 1 |
| stromal cell of endometrium | 1 |
| apex of heart | 1 |
| olfactory bulb | 1 |
| type B pancreatic cell | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| CDKN2A | 220 | ubiquitous | marker | parotid gland, cervix squamous epithelium, pituitary gland |
| PDGFRB | 270 | ubiquitous | marker | stromal cell of endometrium, right coronary artery, endocervix |
| PDGFB | 259 | ubiquitous | marker | olfactory bulb, type B pancreatic cell, apex of heart |
Protein interactions among cohort
Intra-cohort edges: 1.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| CDKN2A | 9,311 |
| PDGFRB | 5,111 |
| PDGFB | 2,424 |
Intra-cohort edges
| A | B | Sources |
|---|---|---|
| PDGFB | PDGFRB | biogrid_interaction, intact, string_interaction |
Structural data
PDB: 3 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| PDGFRB | P09619 | 8 |
| PDGFB | P01127 | 6 |
| CDKN2A | P42771 | 5 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 66. Enrichment computed across 3 evidence-associated genes (3 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 3 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Downstream signal transduction | 2 | 253.8× | 0.001 | PDGFB, PDGFRB |
| Signaling by PDGF | 2 | 169.2× | 0.001 | PDGFB, PDGFRB |
| Evasion of Oncogene Induced Senescence Due to p14ARF Defects | 1 | 3806.7× | 0.003 | CDKN2A |
| Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects | 1 | 3806.7× | 0.003 | CDKN2A |
| Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 | 1 | 1903.3× | 0.003 | CDKN2A |
| Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 | 1 | 1903.3× | 0.003 | CDKN2A |
| Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function | 1 | 1903.3× | 0.003 | CDKN2A |
| Diseases of Cellular Senescence | 1 | 1268.9× | 0.003 | CDKN2A |
| Evasion of Oncogene Induced Senescence Due to p16INK4A Defects | 1 | 1268.9× | 0.003 | CDKN2A |
| Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 | 1 | 1268.9× | 0.003 | CDKN2A |
| Evasion of Oxidative Stress Induced Senescence Due to p16INK4A Defects | 1 | 1268.9× | 0.003 | CDKN2A |
| Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 | 1 | 1268.9× | 0.003 | CDKN2A |
| Diseases of cellular response to stress | 1 | 1268.9× | 0.003 | CDKN2A |
| Constitutive Signaling by Aberrant PI3K in Cancer | 2 | 84.6× | 0.003 | PDGFB, PDGFRB |
| PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling | 2 | 64.5× | 0.003 | PDGFB, PDGFRB |
| PIP3 activates AKT signaling | 2 | 44.5× | 0.003 | PDGFB, PDGFRB |
| RAF/MAP kinase cascade | 2 | 40.7× | 0.003 | PDGFB, PDGFRB |
| RUNX3 regulates p14-ARF | 1 | 380.7× | 0.010 | CDKN2A |
| Apoptotic factor-mediated response | 1 | 292.8× | 0.012 | CDKN2A |
| Stabilization of p53 | 1 | 253.8× | 0.012 | CDKN2A |
| Defective Intrinsic Pathway for Apoptosis | 1 | 253.8× | 0.012 | CDKN2A |
| p53-Dependent G1 DNA Damage Response | 1 | 237.9× | 0.012 | CDKN2A |
| p53-Dependent G1/S DNA damage checkpoint | 1 | 237.9× | 0.012 | CDKN2A |
| G1/S DNA Damage Checkpoints | 1 | 223.9× | 0.012 | CDKN2A |
| Diseases of programmed cell death | 1 | 211.5× | 0.012 | CDKN2A |
| SUMOylation of transcription factors | 1 | 190.3× | 0.013 | CDKN2A |
| Regulation of MITF-M-dependent genes involved in cell cycle and proliferation | 1 | 190.3× | 0.013 | CDKN2A |
| Regulation of TP53 Expression and Degradation | 1 | 173.0× | 0.014 | CDKN2A |
| G1 Phase | 1 | 131.3× | 0.017 | CDKN2A |
| Oncogene Induced Senescence | 1 | 112.0× | 0.019 | CDKN2A |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 3 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 metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway | 2 | 3744.9× | 8e-06 | PDGFB, PDGFRB |
| smooth muscle adaptation | 2 | 2808.7× | 8e-06 | PDGFB, PDGFRB |
| positive regulation of DNA biosynthetic process | 2 | 749.0× | 8e-05 | PDGFB, PDGFRB |
| positive regulation of smooth muscle cell migration | 2 | 660.9× | 8e-05 | PDGFB, PDGFRB |
| positive regulation of calcium ion import | 2 | 624.1× | 8e-05 | PDGFB, PDGFRB |
| positive regulation of chemotaxis | 2 | 561.7× | 8e-05 | PDGFB, PDGFRB |
| positive regulation of MAP kinase activity | 2 | 432.1× | 1e-04 | PDGFB, PDGFRB |
| platelet-derived growth factor receptor signaling pathway | 2 | 374.5× | 1e-04 | PDGFB, PDGFRB |
| positive regulation of mitotic nuclear division | 2 | 362.4× | 1e-04 | PDGFB, PDGFRB |
| positive regulation of reactive oxygen species metabolic process | 2 | 340.4× | 1e-04 | PDGFB, PDGFRB |
| peptidyl-tyrosine phosphorylation | 2 | 280.9× | 2e-04 | PDGFB, PDGFRB |
| positive regulation of smooth muscle cell proliferation | 2 | 220.3× | 3e-04 | PDGFB, PDGFRB |
| cell chemotaxis | 2 | 123.5× | 8e-04 | PDGFB, PDGFRB |
| cell migration involved in coronary angiogenesis | 1 | 5617.3× | 0.001 | PDGFRB |
| metanephric glomerular mesangial cell development | 1 | 5617.3× | 0.001 | PDGFB |
| metanephric glomerular mesangial cell proliferation involved in metanephros development | 1 | 5617.3× | 0.001 | PDGFRB |
| positive regulation of vascular associated smooth muscle cell dedifferentiation | 1 | 5617.3× | 0.001 | PDGFB |
| positive regulation of metanephric mesenchymal cell migration | 1 | 5617.3× | 0.001 | PDGFB |
| negative regulation of phosphatidylinositol biosynthetic process | 1 | 2808.7× | 0.002 | PDGFB |
| nuclear body organization | 1 | 2808.7× | 0.002 | CDKN2A |
| cell migration involved in vasculogenesis | 1 | 2808.7× | 0.002 | PDGFRB |
| cellular response to mycophenolic acid | 1 | 2808.7× | 0.002 | PDGFB |
| smooth muscle cell chemotaxis | 1 | 2808.7× | 0.002 | PDGFRB |
| positive regulation of ERK1 and ERK2 cascade | 2 | 56.7× | 0.002 | PDGFB, PDGFRB |
| positive regulation of glomerular filtration | 1 | 1872.4× | 0.002 | PDGFB |
| positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway | 1 | 1872.4× | 0.002 | PDGFRB |
| apoptotic process involved in mammary gland involution | 1 | 1872.4× | 0.002 | CDKN2A |
| metanephric glomerular capillary formation | 1 | 1872.4× | 0.002 | PDGFRB |
| positive regulation of macrophage apoptotic process | 1 | 1872.4× | 0.002 | CDKN2A |
| positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 2 | 52.2× | 0.002 | PDGFB, PDGFRB |
Therapeutics
Drugs indicated for this disease
0 approved, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Ifosfamide | Phase 3 (in late-stage trials) |
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Pazopanib.
Drug target analysis
Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 2
Druggability breadth: 3 of 3 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 |
|---|---|
| PDGFRB | PONATINIB |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| PDGFRB | 102 | 4 |
| CDKN2A | 0 | 0 |
| PDGFB | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| PONATINIB | 4 | PDGFRB |
| FEDRATINIB | 4 | PDGFRB |
| TIVOZANIB | 4 | PDGFRB |
| LENVATINIB | 4 | PDGFRB |
| AXITINIB | 4 | PDGFRB |
| SORAFENIB | 4 | PDGFRB |
| SUNITINIB MALATE | 4 | PDGFRB |
| REGORAFENIB | 4 | PDGFRB |
| PACRITINIB | 4 | PDGFRB |
| VANDETANIB | 4 | PDGFRB |
| NILOTINIB | 4 | PDGFRB |
| BOSUTINIB | 4 | PDGFRB |
| NINTEDANIB ESYLATE | 4 | PDGFRB |
| GILTERITINIB | 4 | PDGFRB |
| TOVORAFENIB | 4 | PDGFRB |
| PEXIDARTINIB | 4 | PDGFRB |
| PAZOPANIB | 4 | PDGFRB |
| NINTEDANIB | 4 | PDGFRB |
| SUNITINIB | 4 | PDGFRB |
| DASATINIB | 4 | PDGFRB |
| ERLOTINIB | 4 | PDGFRB |
| LAPATINIB | 4 | PDGFRB |
| QUIZARTINIB | 4 | PDGFRB |
| MIDOSTAURIN | 4 | PDGFRB |
| IMATINIB | 4 | PDGFRB |
| VATALANIB | 3 | PDGFRB |
| FAMITINIB | 3 | PDGFRB |
| MASITINIB | 3 | PDGFRB |
| CRENOLANIB | 3 | PDGFRB |
| SARACATINIB | 3 | PDGFRB |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 1.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| PDGFRB | 1,237 | Binding:1213, Functional:16, ADMET:8 |
| PDGFB | 3 | Binding:3 |
| CDKN2A | 2 | Binding:2 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| PDGFRB | 2.7.10.1 | receptor protein-tyrosine kinase |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|---|
| PDGFRB | 1,237 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 3; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
28 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.
| Compound | Max phase | Cohort target (bioactivity) |
|---|---|---|
| PONATINIB | 4 | PDGFRB |
| FEDRATINIB | 4 | PDGFRB |
| TIVOZANIB | 4 | PDGFRB |
| LENVATINIB | 4 | PDGFRB |
| AXITINIB | 4 | PDGFRB |
| SORAFENIB | 4 | PDGFRB |
| SUNITINIB MALATE | 4 | PDGFRB |
| REGORAFENIB | 4 | PDGFRB |
| PACRITINIB | 4 | PDGFRB |
| VANDETANIB | 4 | PDGFRB |
| NILOTINIB | 4 | PDGFRB |
| BOSUTINIB | 4 | PDGFRB |
| NINTEDANIB ESYLATE | 4 | PDGFRB |
| GILTERITINIB | 4 | PDGFRB |
| TOVORAFENIB | 4 | PDGFRB |
| PEXIDARTINIB | 4 | PDGFRB |
| PAZOPANIB | 4 | PDGFRB |
| NINTEDANIB | 4 | PDGFRB |
| SUNITINIB | 4 | PDGFRB |
| DASATINIB | 4 | PDGFRB |
| ERLOTINIB | 4 | PDGFRB |
| LAPATINIB | 4 | PDGFRB |
| QUIZARTINIB | 4 | PDGFRB |
| MIDOSTAURIN | 4 | PDGFRB |
| VATALANIB | 3 | PDGFRB |
| FAMITINIB | 3 | PDGFRB |
| MASITINIB | 3 | PDGFRB |
| CRENOLANIB | 3 | PDGFRB |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 1 | PDGFRB |
| 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 | 2 | CDKN2A, PDGFB |
Undrugged target profiles
2 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| PDGFB | 3 | PDGFRB |
| CDKN2A | 2 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 12.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| PHASE2 | 4 |
| PHASE1/PHASE2 | 3 |
| PHASE1 | 2 |
| Not specified | 2 |
| PHASE3 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00346164 | PHASE3 | COMPLETED | Observation, Radiation Therapy, Combination Chemotherapy, and/or Surgery in Treating Young Patients With Soft Tissue Sarcoma |
| NCT00084630 | PHASE2 | COMPLETED | Imatinib Mesylate in Treating Patients With Locally Recurrent or Metastatic Dermatofibrosarcoma Protuberans |
| NCT00122473 | PHASE1/PHASE2 | COMPLETED | Imatinib in Dermatofibrosarcoma Protuberans (DFSP) |
| NCT00171912 | PHASE2 | COMPLETED | Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes |
| NCT00243191 | PHASE2 | COMPLETED | Neoadjuvant Imatinib in Dermatofibrosarcoma Protuberans |
| NCT00659360 | PHASE2 | COMPLETED | AZD0530 in Treating Patients With Recurrent Locally Advanced or Metastatic Soft Tissue Sarcoma |
| NCT01154452 | PHASE1/PHASE2 | COMPLETED | Vismodegib and Gamma-Secretase/Notch Signalling Pathway Inhibitor RO4929097 in Treating Patients With Advanced or Metastatic Sarcoma |
| NCT01962103 | PHASE1/PHASE2 | COMPLETED | Study to Find a Safe Dose and Show Early Clinical Activity of Weekly Nab-paclitaxel in Pediatric Patients With Recurrent/ Refractory Solid Tumors |
| NCT06610071 | PHASE1 | NOT_YET_RECRUITING | NIFR Image-guided Surgery for Malignant Soft Tissue Tumor With Low-dose SWIG Technique |
| NCT00720174 | PHASE1 | COMPLETED | Cixutumumab and Doxorubicin Hydrochloride in Treating Patients With Unresectable, Locally Advanced, or Metastatic Soft Tissue Sarcoma |
| NCT02310503 | Not specified | COMPLETED | Spanish Registry of Mohs Surgery |
| NCT03381846 | Not specified | COMPLETED | Treatment of Dermatofibrosarcoma Protuberans in Patients 10 Years and Younger |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| IFOSFAMIDE | 4 | 1 |
| IMATINIB | 4 | 1 |
| VISMODEGIB | 4 | 1 |
| SARACATINIB | 3 | 1 |
| CIXUTUMUMAB | 2 | 1 |
| CHEMBL4438584 | 0 | 1 |
Precision-medicine subtype map (CIViC)
Drug × molecular subtype: 7 predictive associations from 11 curated evidence items; also 6 diagnostic, 1 oncogenic.
| Molecular subtype | Therapy | Effect | Level | CIViC |
|---|---|---|---|---|
| COL1A1::PDGFB Fusion | Imatinib | Sensitivity/Response | CIViC A | EID11271 |
| COL1A1::PDGFB Fusion | Imatinib Mesylate | Sensitivity/Response | CIViC B | EID10332 +3 |
| PDGFB Rearrangement | Imatinib Mesylate | Sensitivity/Response | CIViC C | EID10312 +1 |
| COL1A1::PDGFB Fusion | Sunitinib | Sensitivity/Response | CIViC C | EID7991 |
| PDGFB Rearrangement | Sorafenib Tosylate | Sensitivity/Response | CIViC C | EID10333 |
| PDGFRB Overexpression | Sunitinib | Sensitivity/Response | CIViC C | EID7992 |
| CDKN2A Loss | Palbociclib | Sensitivity/Response | CIViC D | EID1881 |
Related Atlas pages
- Cohort genes: CDKN2A, PDGFRB, PDGFB
- Drugs: Ifosfamide, Imatinib, Vismodegib, Saracatinib, Sunitinib, Sorafenib Tosylate, Palbociclib