DFSP
MCID: DRM014
MIFTS: 64

Dermatofibrosarcoma Protuberans (DFSP)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Dermatofibrosarcoma Protuberans

MalaCards integrated aliases for Dermatofibrosarcoma Protuberans:

Name: Dermatofibrosarcoma Protuberans 58 12 54 26 60 30 56 6 15 41 74
Dermatofibrosarcoma 26 56 45 74
Dfsp 58 54 26 60
Giant Cell Fibroblastoma 58 54 74
Metastatic Dermatofibrosarcoma Protuberans 54 74
Familial Dermatofibrosarcoma Protuberans 54
Darier-Hoffmann Tumor 26
Darier-Ferrand Tumor 26

Characteristics:

Orphanet epidemiological data:

60
dermatofibrosarcoma protuberans
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: All ages; Age of death: adult;

Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:3507
OMIM 58 607907
MeSH 45 D018223
MESH via Orphanet 46 C538219
ICD10 via Orphanet 35 C49.9
UMLS via Orphanet 75 C0392784
Orphanet 60 ORPHA31112

Summaries for Dermatofibrosarcoma Protuberans

NIH Rare Diseases : 54 Dermatofibrosarcoma protuberans is an uncommon cancer in which tumors arise in the deeper layers of skin. The tumor usually starts as a small, firm patch of skin; it may be purplish, reddish, or flesh-colored. It is commonly found on the torso, usually in the shoulder and chest area. The tumor typically grows slowly but has a tendency to recur after being removed. It rarely spreads to other parts of the body. The cause of DFSP is unknown, but injury to the affected skin may be a predisposing factor. Treatment usually involves surgically removing the tumor. If the tumor is unable to be removed completely, additional therapy may be needed. Regular follow-up is important to monitor for recurrence.

MalaCards based summary : Dermatofibrosarcoma Protuberans, also known as dermatofibrosarcoma, is related to bednar tumor and myxofibrosarcoma. An important gene associated with Dermatofibrosarcoma Protuberans is PDGFB (Platelet Derived Growth Factor Subunit B), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Mechlorethamine and Ifosfamide have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and brain, and related phenotypes are subcutaneous nodule and neoplasm of the skin

Disease Ontology : 12 A fibrosarcoma that is located in the dermis laryer of the skin and that begins as a hard nodule and grows slowly.

Genetics Home Reference : 26 Dermatofibrosarcoma protuberans is a rare type of cancer that causes a tumor in the deep layers of skin. This condition is a type of soft tissue sarcoma, which are cancers that affect skin, fat, muscle, and similar tissues.

OMIM : 58 Dermatofibrosarcoma protuberans (DFSP) is an uncommon, locally aggressive, but rarely metastasizing tumor of the deep dermis and subcutaneous tissue. It typically presents during early or middle adult life and is most frequently located on the trunk and proximal extremities (Sandberg et al., 2003). (607907)

Wikipedia : 77 Dermatofibrosarcoma protuberans (DFSP) is a rare tumor of the dermis layer of the skin, and is... more...

Related Diseases for Dermatofibrosarcoma Protuberans

Diseases related to Dermatofibrosarcoma Protuberans via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 265)
# Related Disease Score Top Affiliating Genes
1 bednar tumor 33.8 COL1A1 PDGFB S100B VIM
2 myxofibrosarcoma 32.8 DES S100B
3 ring chromosome 4 30.9 COL1A1 PDGFB
4 adult fibrosarcoma 30.7 CD34 COL1A1 PDGFB
5 skin sarcoma 30.7 CD34 COL1A1 PDGFB
6 spindle cell sarcoma 30.6 ACTC1 DES S100B VIM
7 sarcoma 30.6 KIT PDGFB TP53 VIM
8 malignant giant cell tumor of soft parts 30.5 ACTC1 S100B
9 histiocytoma 30.4 KIT SERPINA3 TP53
10 cutaneous leiomyosarcoma 30.4 ACTC1 DES
11 spindle cell lipoma 30.3 ACTC1 DES VIM
12 cutaneous fibrous histiocytoma 30.3 ACTC1 DES F13A1 MMP11 PDGFB S100B
13 fibrous histiocytoma 30.2 ACTC1 DES F13A1 S100B SERPINA3 VIM
14 hypereosinophilic syndrome 30.1 KIT PDGFRA PDGFRB
15 pseudosarcomatous fibromatosis 30.1 ACTC1 CD34 DES VIM
16 hemangiopericytoma, malignant 30.1 ACTC1 DES F13A1 S100B VIM
17 giant cell tumor 30.0 ACTC1 DES SERPINA3 VIM
18 malignant fibroxanthoma 30.0 ACTC1 DES F13A1 S100B SERPINA3 VIM
19 malignant giant cell tumor 30.0 ACTC1 S100B TP53
20 reticulum cell sarcoma 29.9 ACTC1 DES VIM
21 leiomyoma 29.7 ACTC1 CD34 DES KIT VIM
22 neurofibroma 29.3 CD34 F13A1 KIT PDGFRA S100B
23 leiomyosarcoma 28.2 ACTC1 DES KIT PDGFRA PDGFRB S100B
24 gastrointestinal stromal tumor 28.1 ACTC1 CD34 DES KIT NES PDGFRA
25 undifferentiated pleomorphic sarcoma 11.8
26 mixed liposarcoma 10.5 CD34 PDGFB
27 fibrosarcoma 10.5
28 astroblastoma 10.5 NES VIM
29 myxopapillary ependymoma 10.4 S100B VIM
30 monophasic synovial sarcoma 10.4 S100B VIM
31 dysembryoplastic neuroepithelial tumor 10.4 NES S100B
32 adenofibroma 10.4 ACTC1 VIM
33 generalized eruptive histiocytosis 10.4 F13A1 S100B
34 fibroma 10.4
35 sternum cancer 10.4 CD34 VIM
36 progressive nodular histiocytosis 10.4 ACTC1 F13A1
37 biphasic synovial sarcoma 10.4 DES VIM
38 hydromyelia 10.4 S100B VIM
39 lymphangiectasis 10.4 ACTC1 VIM
40 multicentric reticulohistiocytosis 10.3 F13A1 VIM
41 peritoneal benign neoplasm 10.3 CD34 KIT
42 plexiform schwannoma 10.3 CD34 KIT
43 kidney hemangiopericytoma 10.3 ACTC1 CD34
44 diffuse peritoneal leiomyomatosis 10.3 CD34 KIT
45 scleromyxedema 10.3 ACTC1 F13A1
46 spindle cell rhabdomyosarcoma 10.3 DES S100B
47 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.3
48 keloids 10.3
49 anaplastic ganglioglioma 10.3 ACTC1 NES
50 acral lentiginous melanoma 10.3 KIT VIM

Graphical network of the top 20 diseases related to Dermatofibrosarcoma Protuberans:



Diseases related to Dermatofibrosarcoma Protuberans

Symptoms & Phenotypes for Dermatofibrosarcoma Protuberans

Human phenotypes related to Dermatofibrosarcoma Protuberans:

60 33 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 subcutaneous nodule 60 33 hallmark (90%) Very frequent (99-80%) HP:0001482
2 neoplasm of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0008069
3 erythema 60 33 hallmark (90%) Very frequent (99-80%) HP:0010783
4 thickened skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0001072
5 fibrosarcoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0100244
6 skin ulcer 60 33 frequent (33%) Frequent (79-30%) HP:0200042

Clinical features from OMIM:

607907

GenomeRNAi Phenotypes related to Dermatofibrosarcoma Protuberans according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.28 APOD COL6A3 DES KIT MMP11 PDGFB

MGI Mouse Phenotypes related to Dermatofibrosarcoma Protuberans:

47 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.3 ACTC1 APOD CD34 COL1A1 DES F13A1
2 cardiovascular system MP:0005385 10.27 ACTC1 APOD COL1A1 DES F13A1 KIT
3 cellular MP:0005384 10.18 ACTC1 CD34 COL1A1 COL6A3 DES KIT
4 mortality/aging MP:0010768 10.14 ACTC1 APOD COL1A1 DES F13A1 KIT
5 muscle MP:0005369 10.07 ACTC1 COL1A1 COL6A3 DES KIT PDGFB
6 integument MP:0010771 10.03 CD34 COL1A1 KIT PDGFB PDGFRA PDGFRB
7 neoplasm MP:0002006 9.8 CD34 COL1A1 KIT MMP11 PDGFRA TP53
8 reproductive system MP:0005389 9.76 COL1A1 F13A1 KIT PDGFB PDGFRA PDGFRB
9 pigmentation MP:0001186 9.65 COL1A1 KIT PDGFB PDGFRA TP53
10 respiratory system MP:0005388 9.5 COL1A1 F13A1 KIT PDGFB PDGFRA TP53
11 vision/eye MP:0005391 9.17 COL1A1 COL6A3 KIT PDGFB PDGFRB TP53

Drugs & Therapeutics for Dermatofibrosarcoma Protuberans

Drugs for Dermatofibrosarcoma Protuberans (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mechlorethamine Approved, Investigational Phase 3 51-75-2 4033
2
Ifosfamide Approved Phase 3 3778-73-2 3690
3
Doxorubicin Approved, Investigational Phase 3,Phase 1 23214-92-8 31703
4
Doxil Approved June 1999 Phase 3,Phase 1 31703
5 Alkylating Agents Phase 3,Phase 1
6 Antineoplastic Agents, Alkylating Phase 3,Phase 1
7 Antibiotics, Antitubercular Phase 3,Phase 1
8 Anti-Bacterial Agents Phase 3,Phase 1
9 Topoisomerase Inhibitors Phase 3,Phase 1
10
Isophosphamide mustard Phase 3 0
11
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
12
Paclitaxel Approved, Vet_approved Phase 1, Phase 2 33069-62-4 36314
13
Tyrosine Approved, Investigational, Nutraceutical Phase 1, Phase 2,Phase 2 60-18-4 6057
14
Saracatinib Investigational Phase 2 379231-04-6
15 Protein Kinase Inhibitors Phase 2,Phase 1
16 Imatinib Mesylate Phase 2,Phase 1 220127-57-1 123596
17 Angiogenesis Modulating Agents Phase 2
18 Angiogenesis Inhibitors Phase 2
19 Immunosuppressive Agents Phase 2,Phase 1
20 Antimitotic Agents Phase 1, Phase 2
21 taxane Phase 1, Phase 2
22 Albumin-Bound Paclitaxel Phase 1, Phase 2
23 Antineoplastic Agents, Phytogenic Phase 1, Phase 2
24
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
25 Immunoglobulins Phase 1
26 Antibodies Phase 1
27 Antibodies, Monoclonal Phase 1
28 Antirheumatic Agents Phase 1
29 Immunologic Factors Phase 1
30 glutamine Not Applicable

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 Ifosfamide and Doxorubicin, Radiation Therapy, and/or Surgery in Treating Young Patients With Localized Soft Tissue Sarcoma Unknown status NCT00334854 Phase 3 doxorubicin hydrochloride;ifosfamide
2 Observation, Radiation Therapy, Combination Chemotherapy, and/or Surgery in Treating Young Patients With Soft Tissue Sarcoma Completed NCT00346164 Phase 3 doxorubicin hydrochloride;ifosfamide
3 Neoadjuvant Imatinib in Dermatofibrosarcoma Protuberans Completed NCT00243191 Phase 2 imatinib mesylate
4 Imatinib in Dermatofibrosarcoma Protuberans (DFSP) Completed NCT00122473 Phase 1, Phase 2 Imatinib (Glivec)
5 Phase II Pazopanib Study in Advanced Dermatofibrosarcomas Terminated NCT01059656 Phase 2 Pazopanib
6 Imatinib Mesylate in Treating Patients With Locally Recurrent or Metastatic Dermatofibrosarcoma Protuberans Completed NCT00084630 Phase 2 imatinib mesylate
7 Imatinib Mesylate in Treating Patients With Locally Advanced or Metastatic Dermatofibrosarcoma Protuberans or Giant Cell Fibroblastoma Completed NCT00085475 Phase 2 imatinib mesylate
8 Imatinib Mesylate (Gleevec) in the Treatment of Systemic Sclerosis Completed NCT00555581 Phase 2 Imatinib Mesylate
9 Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes Completed NCT00171912 Phase 2 imatinib mesylate
10 Sunitinib in Treating Patients With Metastatic, Locally Advanced, or Locally Recurrent Sarcomas Completed NCT00474994 Phase 2 sunitinib malate
11 Vismodegib and Gamma-Secretase/Notch Signalling Pathway Inhibitor RO4929097 in Treating Patients With Advanced or Metastatic Sarcoma Completed NCT01154452 Phase 1, Phase 2 Gamma-Secretase Inhibitor RO4929097;Vismodegib
12 AZD0530 in Treating Patients With Recurrent Locally Advanced or Metastatic Soft Tissue Sarcoma Completed NCT00659360 Phase 2 saracatinib
13 Study to Find a Safe Dose and Show Early Clinical Activity of Weekly Nab-paclitaxel in Pediatric Patients With Recurrent/ Refractory Solid Tumors Completed NCT01962103 Phase 1, Phase 2 nab-paclitaxel;nab-paclitaxel
14 Intensity-Modulated Radiation Therapy in Treating Patients Undergoing Surgery for Stage IB, Stage II, or Stage III Soft Tissue Sarcoma Terminated NCT00740597 Phase 2
15 Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases Completed NCT00154388 Phase 2 Imatinib mesylate
16 Cixutumumab and Doxorubicin Hydrochloride in Treating Patients With Unresectable, Locally Advanced, or Metastatic Soft Tissue Sarcoma Completed NCT00720174 Phase 1 Doxorubicin Hydrochloride
17 Imatinib Mesylate And Cyclophosphamide In Metronomic Administration: Dose Escalation Study Of Imatinib Mesylate Completed NCT01046487 Phase 1 Imatinib mesylate, Cyclophosphamide (Dosing level 1 );Imatinib mesylate, Cyclophosphamide (Dosing level 2);Imatinib mesylate, Cyclophosphamide (Dosing level 3)
18 Clinical Outcome of Pediatric Dermatofibrosarcoma Protuberans Unknown status NCT00173355
19 Treatment of Dermatofibrosarcoma Protuberans in Patients 10 Years and Younger Recruiting NCT03381846 Not Applicable
20 Spanish Registry of Mohs Surgery Recruiting NCT02310503
21 Glutamine in Preventing Oral Mucositis in Patients Receiving Chemotherapy for Sarcoma Withdrawn NCT00334984 Not Applicable glutamine

Search NIH Clinical Center for Dermatofibrosarcoma Protuberans

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: dermatofibrosarcoma

Genetic Tests for Dermatofibrosarcoma Protuberans

Genetic tests related to Dermatofibrosarcoma Protuberans:

# Genetic test Affiliating Genes
1 Dermatofibrosarcoma Protuberans 30 PDGFB

Anatomical Context for Dermatofibrosarcoma Protuberans

MalaCards organs/tissues related to Dermatofibrosarcoma Protuberans:

42
Skin, Bone, Brain, Lymph Node, Liver, Heart, Small Intestine

The Foundational Model of Anatomy Ontology organs/tissues related to Dermatofibrosarcoma Protuberans:

20
The Dermis Laryer Of The Skin

Publications for Dermatofibrosarcoma Protuberans

Articles related to Dermatofibrosarcoma Protuberans:

(show top 50) (show all 1041)
# Title Authors Year
1
Dermatofibrosarcoma protuberans in a pediatric patient with ataxia telangiectasia syndrome. ( 30854690 )
2019
2
Role of postoperative radiotherapy in dermatofibrosarcoma protuberans: a propensity score-matched analysis. ( 30696463 )
2019
3
Possible contribution of PDGF-BB-induced autophagy in dermatofibrosarcoma protuberans: Autophagy marker Atg5 could be a differential marker between dermatofibrosarcoma protuberans and dermatofibroma. ( 30704939 )
2019
4
Dermatofibrosarcoma protuberans: Two rare variants. ( 30719992 )
2019
5
Giant Dermatofibrosarcoma Protuberans With Bilateral Orbital Involvement. ( 30730435 )
2019
6
Dermatofibrosarcoma protuberans: A rare and devastating tumor of the vulva. ( 30733992 )
2019
7
Autoamputation of Dermatofibrosarcoma Protuberans: A Novel and Rare Presentation of a Familiar Entity. ( 30813811 )
2019
8
A juvenile male case of dermatofibrosarcoma protuberans on the breast. ( 30820997 )
2019
9
Recurrent occipital dermatofibrosarcoma protuberans tackled with wide local excision: A case report and current management. ( 30846668 )
2019
10
Ex vivo confocal microscopy for dermatofibrosarcoma protuberans. ( 30861221 )
2019
11
Current Update on the Molecular Biology of Cutaneous Sarcoma: Dermatofibrosarcoma Protuberans. ( 30874910 )
2019
12
No evidence for viral transcripts in dermatofibrosarcoma protuberans. ( 30883688 )
2019
13
Abscopal Effect of Radiotherapy in Imatinib-resistant Dermatofibrosarcoma Protuberans. ( 30899608 )
2019
14
Fine-needle aspiration of dermatofibrosarcoma protuberans metastasizing to hemithorax with superior vena cava compression: Case report and literature review. ( 30919592 )
2019
15
A novel MAP3K7CL-ERG fusion in a molecularly confirmed case of dermatofibrosarcoma protuberans with fibrosarcomatous transformation. ( 30950098 )
2019
16
Dermatofibrosarcoma Protuberans on Adult Toes: A Case Report and Review of the Literature. ( 30952756 )
2019
17
Dermatofibrosarcoma protuberans with fibrosarcomatous transformation: our experience, molecular evaluation of selected cases, and short literature review. ( 30968395 )
2019
18
Ophthalmologic aspects of Dermatofibrosarcoma Protuberans: A systematic review in the context of a rare case of primary orbital involvement. ( 30981544 )
2019
19
"Deep" vertical Mohs and closure with a tumor-free flap for dermatofibrosarcoma protuberans: A case report. ( 31065362 )
2019
20
Dermoscopy of Dermatofibrosarcoma Protuberans: What Do We Know? ( 31106017 )
2019
21
A Unique Case of Dermatofibrosarcoma Protuberans With Melanocytic Differentiation. ( 29474191 )
2019
22
Jellyfish-like sonographic pattern can help recognition of dermatofibrosarcoma protuberans. Report of 3 new cases and review of the literature. ( 30318748 )
2019
23
Establishment of novel patient-derived models of dermatofibrosarcoma protuberans: two cell lines, NCC-DFSP1-C1 and NCC-DFSP2-C1. ( 30411273 )
2019
24
Imatinib Treatment for Locally Advanced or Metastatic Dermatofibrosarcoma Protuberans: A Systematic Review. ( 30601909 )
2019
25
Recurrent Dermatofibrosarcoma Protuberans of the Parotid: A case report and review of literature. ( 30623924 )
2019
26
Preoperative 3-Dimensional Reconstruction of Dermatofibrosarcoma Protuberans. ( 30640785 )
2019
27
Outcome after surgical treatment of dermatofibrosarcoma protuberans: Is clinical follow-up always indicated? ( 30644528 )
2019
28
Risk-stratified surveillance in dermatofibrosarcoma protuberans: Less is more. ( 30644529 )
2019
29
Acellular dermal matrix for breast reconstruction after surgery for giant dermatofibrosarcoma protuberans. ( 30004034 )
2018
30
Review of the medical literature and assessment of current utilization patterns regarding the use of two common fluorescence in situ hybridization assays in the diagnosis of dermatofibrosarcoma protuberans and clear cell sarcoma. ( 30155908 )
2018
31
Fibrosarcomatous dermatofibrosarcoma protuberans from scar following trauma. ( 30775318 )
2018
32
Dermatofibrosarcoma protuberans: clinicopathologic presentation in Nigerians. ( 30918552 )
2018
33
Dermatofibrosarcoma protuberans: when the age makes the difference. ( 28509521 )
2018
34
Massively Metastatic Dermatofibrosarcoma Protuberans With Fibrosarcomatous Transformation Years After Surgical Resection. ( 28595245 )
2018
35
Dermatofibrosarcoma Protuberans Presenting as a Large Atrophic Plaque on the Chest. ( 28929166 )
2018
36
Orbitofacial dermatofibrosarcoma protuberans with intranasal extension. ( 29058523 )
2018
37
PDGFB Rearrangements in Dermatofibrosarcoma Protuberans of the Vulva: A Study of 11 Cases Including Myxoid and Fibrosarcomatous Variants. ( 29140881 )
2018
38
Survival in patients with primary dermatofibrosarcoma protuberans: National Cancer Database analysis. ( 29175214 )
2018
39
Dermatofibrosarcoma Protuberans of Distal Extremities and Acral Sites: A Clinicopathologic Analysis of 27 Cases. ( 29240584 )
2018
40
Middle-aged female with palpable swelling over the abdominal wall. Dermatofibrosarcoma protuberans. ( 29256066 )
2018
41
Lung Metastasis From Fibrosarcomatous Dermatofibrosarcoma Protuberans of the Vulva: A Rare Case Report. ( 29271862 )
2018
42
Two childhood cases of pigmented dermatofibrosarcoma protuberans with atrophic change. ( 29336320 )
2018
43
Comment on: Orbital dermatofibrosarcoma protuberans with frontal and ethmoid sinus involvement: A case report and brief review of literature. ( 29380813 )
2018
44
Reply to comment on: Orbital dermatofibrosarcoma protuberans with frontal and ethmoid sinus involvement: A case report and brief review of literature. ( 29380814 )
2018
45
Dermatofibrosarcoma protuberans in pediatric patients: A diagnostic and management challenge. ( 29387771 )
2018
46
A Rare Case of Misdiagnosis: Recurrence of Dermatofibrosarcoma Protuberans That Was Treated Surgicallyas a Keloid. ( 29416224 )
2018
47
An unusual clinical presentation of myxoid dermatofibrosarcoma protuberans with a prominent vasculature: A potential pitfall in the diagnosis of myxoid soft tissue tumors. ( 29468850 )
2018
48
Dermatofibrosarcoma Protuberans: Retrospective Single Center Analysis Over 16 Years. ( 29483976 )
2018
49
EGFR is involved in dermatofibrosarcoma protuberans progression to high grade sarcoma. ( 29492209 )
2018
50
Relapse in dermatofibrosarcoma protuberans: A histological and molecular analysis. ( 29509956 )
2018

Variations for Dermatofibrosarcoma Protuberans

ClinVar genetic disease variations for Dermatofibrosarcoma Protuberans:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PDGFB PDGFB, PDGFB/COL1A1 FUSION undetermined variant Pathogenic
2 PDGFB NM_002608.3(PDGFB): c.670C> T (p.Arg224Trp) single nucleotide variant Uncertain significance rs146468845 GRCh37 Chromosome 22, 39621784: 39621784
3 PDGFB NM_002608.3(PDGFB): c.670C> T (p.Arg224Trp) single nucleotide variant Uncertain significance rs146468845 GRCh38 Chromosome 22, 39225779: 39225779
4 PDGFB NM_002608.3(PDGFB): c.635C> T (p.Thr212Met) single nucleotide variant Benign rs114786489 GRCh38 Chromosome 22, 39225814: 39225814
5 PDGFB NM_002608.3(PDGFB): c.635C> T (p.Thr212Met) single nucleotide variant Benign rs114786489 GRCh37 Chromosome 22, 39621819: 39621819
6 PDGFB NM_002608.3(PDGFB): c.160+15C> A single nucleotide variant Benign rs17303681 GRCh37 Chromosome 22, 39631768: 39631768
7 PDGFB NM_002608.3(PDGFB): c.160+15C> A single nucleotide variant Benign rs17303681 GRCh38 Chromosome 22, 39235763: 39235763

Cosmic variations for Dermatofibrosarcoma Protuberans:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM575 NRAS soft tissue,skin,sarcoma,NS c.38G>C p.G13A 1:114716123-114716123 0
2 COSM584 NRAS skin,trunk,benign melanocytic nevus,congenital c.182A>G p.Q61R 1:114713908-114713908 0
3 COSM580 NRAS skin,trunk,benign melanocytic nevus,congenital c.181C>A p.Q61K 1:114713909-114713909 0
4 COSM28757 GNAQ soft tissue,chest,haemangioma,congenital c.626A>T p.Q209L 9:77794572-77794572 0
5 COSM476 BRAF skin,trunk,benign melanocytic nevus,congenital c.1799T>A p.V600E 7:140753336-140753336 0

Expression for Dermatofibrosarcoma Protuberans

Search GEO for disease gene expression data for Dermatofibrosarcoma Protuberans.

Pathways for Dermatofibrosarcoma Protuberans

Pathways related to Dermatofibrosarcoma Protuberans according to GeneCards Suite gene sharing:

(show all 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.92 CD34 F13A1 KIT PDGFB PDGFRA PDGFRB
2
Show member pathways
13.74 COL1A1 COL6A3 DES KIT PDGFB PDGFRA
3
Show member pathways
13.2 F13A1 KIT PDGFB PDGFRA PDGFRB TP53
4
Show member pathways
12.8 COL1A1 COL6A3 KIT PDGFB PDGFRA PDGFRB
5
Show member pathways
12.78 COL1A1 COL6A3 PDGFB PDGFRA PDGFRB
6
Show member pathways
12.74 KIT PDGFB PDGFRA PDGFRB TP53
7 12.71 KIT PDGFB PDGFRA PDGFRB TP53
8
Show member pathways
12.7 COL1A1 COL6A3 KIT PDGFB PDGFRA PDGFRB
9 12.62 KIT PDGFB PDGFRA PDGFRB TP53
10
Show member pathways
12.57 KIT PDGFB PDGFRA PDGFRB TP53
11
Show member pathways
12.47 PDGFB PDGFRA PDGFRB TP53
12 12.33 PDGFB PDGFRA PDGFRB TP53 VIM
13
Show member pathways
12.27 KIT PDGFB PDGFRA PDGFRB
14 12.23 PDGFB PDGFRA PDGFRB TP53
15
Show member pathways
12.1 KIT PDGFB PDGFRA PDGFRB TP53
16 11.9 NES PDGFB PDGFRB VIM
17 11.87 F13A1 TP53 VIM
18
Show member pathways
11.84 DES NES VIM
19 11.78 PDGFB PDGFRA PDGFRB TP53
20 11.73 PDGFB PDGFRA PDGFRB
21 11.6 ACTC1 DES VIM
22 11.45 NES PDGFB PDGFRA S100B VIM
23 11.42 ACTC1 KIT PDGFRA
24 11.37 KIT PDGFRA PDGFRB TP53
25 11.32 PDGFB PDGFRA PDGFRB
26 10.94 PDGFB PDGFRA PDGFRB
27 10.46 COL1A1 COL6A3 DES KIT PDGFB PDGFRA
28 10.07 COL1A1 PDGFB PDGFRA PDGFRB

GO Terms for Dermatofibrosarcoma Protuberans

Cellular components related to Dermatofibrosarcoma Protuberans according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.77 CD34 KIT PDGFB PDGFRA PDGFRB
2 extracellular space GO:0005615 9.76 ACTC1 APOD COL1A1 COL6A3 KIT PDGFB
3 extracellular region GO:0005576 9.61 APOD CD34 COL1A1 COL6A3 F13A1 MMP11
4 platelet alpha granule lumen GO:0031093 9.43 F13A1 PDGFB SERPINA3
5 collagen-containing extracellular matrix GO:0062023 9.02 COL1A1 COL6A3 F13A1 PDGFB SERPINA3
6 cytoplasm GO:0005737 10.13 ACTC1 CD34 COL1A1 DES F13A1 KIT

Biological processes related to Dermatofibrosarcoma Protuberans according to GeneCards Suite gene sharing:

(show all 39)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.94 F13A1 KIT TP53 VIM
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.93 KIT PDGFB PDGFRA PDGFRB
3 MAPK cascade GO:0000165 9.9 KIT PDGFB PDGFRA PDGFRB
4 peptidyl-tyrosine phosphorylation GO:0018108 9.87 KIT PDGFB PDGFRA PDGFRB
5 positive regulation of protein kinase B signaling GO:0051897 9.86 KIT PDGFB PDGFRA PDGFRB
6 platelet degranulation GO:0002576 9.85 F13A1 PDGFB SERPINA3
7 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.83 KIT PDGFRA PDGFRB
8 positive regulation of cell migration GO:0030335 9.83 COL1A1 KIT PDGFB PDGFRA PDGFRB
9 wound healing GO:0042060 9.82 COL1A1 PDGFRA PDGFRB
10 negative regulation of apoptotic process GO:0043066 9.81 ACTC1 PDGFRB TP53
11 positive regulation of MAPK cascade GO:0043410 9.8 KIT PDGFB PDGFRA PDGFRB
12 positive regulation of gene expression GO:0010628 9.8 ACTC1 CD34 KIT PDGFB TP53 VIM
13 hemopoiesis GO:0030097 9.79 CD34 KIT PDGFB
14 positive regulation of MAP kinase activity GO:0043406 9.76 KIT PDGFB PDGFRB
15 positive regulation of fibroblast proliferation GO:0048146 9.75 PDGFB PDGFRA PDGFRB
16 muscle filament sliding GO:0030049 9.72 ACTC1 DES VIM
17 cell chemotaxis GO:0060326 9.71 KIT PDGFB PDGFRA PDGFRB
18 positive regulation of smooth muscle cell migration GO:0014911 9.68 PDGFB PDGFRB
19 intermediate filament organization GO:0045109 9.67 DES VIM
20 positive regulation of calcium ion import GO:0090280 9.67 PDGFB PDGFRB
21 positive regulation of DNA biosynthetic process GO:2000573 9.66 PDGFB PDGFRB
22 positive regulation of chemotaxis GO:0050921 9.66 PDGFB PDGFRB
23 response to hyperoxia GO:0055093 9.65 COL1A1 PDGFRB
24 platelet-derived growth factor receptor signaling pathway GO:0048008 9.65 PDGFB PDGFRA PDGFRB
25 extracellular matrix organization GO:0030198 9.65 COL1A1 COL6A3 MMP11 PDGFB PDGFRA
26 positive regulation of reactive oxygen species metabolic process GO:2000379 9.63 PDGFB PDGFRB TP53
27 negative regulation of platelet activation GO:0010544 9.62 PDGFB PDGFRA
28 stem cell proliferation GO:0072089 9.62 CD34 NES
29 retina vasculature development in camera-type eye GO:0061298 9.61 PDGFRA PDGFRB
30 paracrine signaling GO:0038001 9.59 CD34 PDGFB
31 metanephric glomerular capillary formation GO:0072277 9.54 PDGFRA PDGFRB
32 cardiac myofibril assembly GO:0055003 9.54 ACTC1 PDGFRA PDGFRB
33 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.52 PDGFRA PDGFRB
34 positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway GO:0035793 9.51 PDGFB PDGFRB
35 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.46 KIT PDGFB PDGFRA PDGFRB
36 positive regulation of phospholipase C activity GO:0010863 9.13 KIT PDGFRA PDGFRB
37 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 8.92 KIT PDGFB PDGFRA PDGFRB
38 multicellular organism development GO:0007275 10.15 MMP11 NES PDGFB PDGFRA PDGFRB TP53
39 positive regulation of cell proliferation GO:0008284 10.03 KIT PDGFB PDGFRA PDGFRB S100B

Molecular functions related to Dermatofibrosarcoma Protuberans according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.85 COL1A1 DES PDGFB S100B TP53 VIM
2 protease binding GO:0002020 9.5 COL1A1 KIT TP53
3 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.43 KIT PDGFRA PDGFRB
4 vascular endothelial growth factor binding GO:0038085 9.16 PDGFRA PDGFRB
5 platelet-derived growth factor receptor binding GO:0005161 9.13 PDGFB PDGFRA PDGFRB
6 platelet-derived growth factor binding GO:0048407 8.92 COL1A1 PDGFB PDGFRA PDGFRB

Sources for Dermatofibrosarcoma Protuberans

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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