MCID: DRM014
MIFTS: 64

Dermatofibrosarcoma Protuberans

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

Aliases & Classifications for Dermatofibrosarcoma Protuberans

MalaCards integrated aliases for Dermatofibrosarcoma Protuberans:

Name: Dermatofibrosarcoma Protuberans 57 12 53 25 59 29 55 6 15 40 73
Dermatofibrosarcoma 25 55 44 73
Dfsp 57 53 25 59
Giant Cell Fibroblastoma 57 53 73
Metastatic Dermatofibrosarcoma Protuberans 53 73
Familial Dermatofibrosarcoma Protuberans 53
Darier-Hoffmann Tumor 25
Darier-Ferrand Tumor 25

Characteristics:

Orphanet epidemiological data:

59
dermatofibrosarcoma protuberans
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: All ages; Age of death: adult;

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 607907
Disease Ontology 12 DOID:3507
MeSH 44 D018223
Orphanet 59 ORPHA31112
MESH via Orphanet 45 C538219
UMLS via Orphanet 74 C0392784
ICD10 via Orphanet 34 C49.9

Summaries for Dermatofibrosarcoma Protuberans

NIH Rare Diseases : 53 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 Cytokine Signaling in Immune system. The drugs Doxorubicin and Ifosfamide have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and lung, and related phenotypes are subcutaneous nodule and skin ulcer

OMIM : 57 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)

Genetics Home Reference : 25 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.

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.

Wikipedia : 76 Dermatofibrosarcoma protuberans (DFSP) is a rare tumor. It is a rare neoplasm of the dermis layer of the... 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 240)
# Related Disease Score Top Affiliating Genes
1 bednar tumor 33.7 COL1A1 PDGFB S100B VIM
2 myxofibrosarcoma 33.1 DES S100B
3 ring chromosome 4 31.4 COL1A1 PDGFB
4 malignant giant cell tumor of soft parts 30.7 ACTC1 S100B
5 cutaneous leiomyosarcoma 30.5 ACTC1 DES
6 spindle cell lipoma 30.5 ACTC1 DES VIM
7 pseudosarcomatous fibromatosis 30.2 ACTC1 DES VIM
8 fasciitis 30.2 ACTC1 DES VIM
9 giant cell tumor 30.0 DES SERPINA3 VIM
10 adult fibrosarcoma 30.0 COL1A1 PDGFB
11 histiocytoma 29.4 KIT SERPINA3 TP53
12 malignant giant cell tumor 29.4 ACTC1 S100B TP53
13 hemangiopericytoma, malignant 29.2 ACTC1 DES F13A1 S100B VIM
14 fibrous histiocytoma 28.9 ACTC1 DES F13A1 S100B SERPINA3 VIM
15 leiomyoma 28.9 ACTC1 CD34 DES KIT VIM
16 glomus tumor 28.8 ACTC1 DES TP53 VIM
17 malignant fibroxanthoma 28.7 ACTC1 DES F13A1 S100B SERPINA3 VIM
18 leiomyosarcoma 25.7 ACTC1 DES KIT PDGFRA PDGFRB S100B
19 gastrointestinal stromal tumor 24.9 ACTC1 CD34 DES KIT NES PDGFRA
20 undifferentiated pleomorphic sarcoma 11.2
21 basal ganglia calcification, idiopathic, 1 10.9 PDGFB PDGFRB
22 primary familial brain calcification 10.9 PDGFB PDGFRB
23 sternum cancer 10.9 CD34 VIM
24 generalized eruptive histiocytosis 10.8 F13A1 S100B
25 multicentric reticulohistiocytosis 10.8 F13A1 VIM
26 erythema elevatum diutinum 10.8 CD34 F13A1
27 granuloma annulare 10.8 F13A1 VIM
28 hydromyelia 10.8 S100B VIM
29 skin sarcoma 10.7 CD34 COL1A1 PDGFB
30 progressive nodular histiocytosis 10.7 ACTC1 F13A1
31 infantile digital fibromatosis 10.7 DES VIM
32 primary hepatic neuroendocrine carcinoma 10.7 S100B VIM
33 lymphangiomatosis 10.7 DES VIM
34 scleromyxedema 10.7 ACTC1 F13A1
35 chordoid meningioma 10.7 S100B VIM
36 primitive neuroectodermal tumor of the cervix uteri 10.7 DES VIM
37 lymphangiectasis 10.7 ACTC1 VIM
38 gallbladder leiomyoma 10.6 CD34 KIT
39 lung leiomyosarcoma 10.6 CD34 KIT
40 eccrine porocarcinoma 10.6 S100B VIM
41 myofibromatosis, infantile, 1 10.6 ACTC1 PDGFRB
42 anaplastic ganglioglioma 10.6 ACTC1 NES
43 epulis 10.6 DES VIM
44 liver leiomyoma 10.6 CD34 KIT
45 dysembryoplastic neuroepithelial tumor 10.6 NES S100B
46 deep leiomyoma 10.6 CD34 KIT
47 mixed liposarcoma 10.6 CD34 PDGFB
48 malignant triton tumor 10.6 DES S100B
49 extracutaneous mastocytoma 10.6 CD34 KIT
50 fibrous meningioma 10.6 F13A1 S100B VIM

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



Diseases related to Dermatofibrosarcoma Protuberans

Symptoms & Phenotypes for Dermatofibrosarcoma Protuberans

Clinical features from OMIM:

607907

Human phenotypes related to Dermatofibrosarcoma Protuberans:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 subcutaneous nodule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001482
2 skin ulcer 59 32 frequent (33%) Frequent (79-30%) HP:0200042
3 neoplasm of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008069
4 erythema 59 32 hallmark (90%) Very frequent (99-80%) HP:0010783
5 thickened skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001072
6 fibrosarcoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0100244

MGI Mouse Phenotypes related to Dermatofibrosarcoma Protuberans:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.28 ACTC1 APOD CD34 COL1A1 DES F13A1
2 cardiovascular system MP:0005385 10.27 TP53 VIM ACTC1 APOD COL1A1 DES
3 behavior/neurological MP:0005386 10.16 APOD COL1A1 DES KIT PDGFRA PDGFRB
4 hematopoietic system MP:0005397 10.11 CD34 COL1A1 F13A1 KIT PDGFB PDGFRA
5 mortality/aging MP:0010768 10.11 ACTC1 APOD COL1A1 DES F13A1 KIT
6 embryo MP:0005380 10.02 VIM COL1A1 KIT PDGFB PDGFRA PDGFRB
7 integument MP:0010771 10.01 PDGFB PDGFRA PDGFRB S100B TP53 CD34
8 muscle MP:0005369 9.97 ACTC1 COL1A1 DES KIT PDGFB PDGFRA
9 neoplasm MP:0002006 9.73 MMP11 PDGFRA TP53 CD34 COL1A1 KIT
10 reproductive system MP:0005389 9.56 F13A1 KIT PDGFB PDGFRA PDGFRB TP53
11 pigmentation MP:0001186 9.55 COL1A1 KIT PDGFB PDGFRA TP53
12 respiratory system MP:0005388 9.17 COL1A1 F13A1 KIT PDGFB PDGFRA TP53

Drugs & Therapeutics for Dermatofibrosarcoma Protuberans

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

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxorubicin Approved, Investigational Phase 3,Phase 1 23214-92-8 31703
2
Ifosfamide Approved Phase 3 3778-73-2 3690
3
Mechlorethamine Approved, Investigational Phase 3 51-75-2 4033
4
Doxil Approved June 1999 Phase 3,Phase 1 31703
5 Alkylating Agents Phase 3,Phase 1
6 Anti-Bacterial Agents Phase 3,Phase 1
7 Antibiotics, Antitubercular Phase 3,Phase 1
8 Antineoplastic Agents, Alkylating Phase 3,Phase 1
9
Isophosphamide mustard Phase 3 0
10 Topoisomerase Inhibitors Phase 3,Phase 1
11
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
12
Paclitaxel Approved, Vet_approved Phase 1, Phase 2 33069-62-4 36314
13
Saracatinib Investigational Phase 2 379231-04-6
14 Imatinib Mesylate Phase 2,Phase 1 220127-57-1 123596
15 Protein Kinase Inhibitors Phase 2,Phase 1
16 Angiogenesis Inhibitors Phase 2
17 Angiogenesis Modulating Agents Phase 2
18 Immunosuppressive Agents Phase 2,Phase 1
19 Albumin-Bound Paclitaxel Phase 1, Phase 2
20 Antimitotic Agents Phase 1, Phase 2
21 Antineoplastic Agents, Phytogenic Phase 1, Phase 2
22 taxane Phase 1, Phase 2
23 tyrosine Nutraceutical Phase 1, Phase 2,Phase 2
24
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
25 Antibodies Phase 1
26 Antibodies, Monoclonal Phase 1
27 Immunoglobulins Phase 1
28 Antirheumatic Agents Phase 1

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 Imatinib Mesylate in Treating Patients With Locally Recurrent or Metastatic Dermatofibrosarcoma Protuberans Completed NCT00084630 Phase 2 imatinib mesylate
6 Imatinib Mesylate in Treating Patients With Locally Advanced or Metastatic Dermatofibrosarcoma Protuberans or Giant Cell Fibroblastoma Completed NCT00085475 Phase 2 imatinib mesylate
7 Imatinib Mesylate (Gleevec) in the Treatment of Systemic Sclerosis Completed NCT00555581 Phase 2 Imatinib Mesylate
8 Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes Completed NCT00171912 Phase 2 imatinib mesylate
9 Sunitinib in Treating Patients With Metastatic, Locally Advanced, or Locally Recurrent Sarcomas Completed NCT00474994 Phase 2 sunitinib malate
10 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
11 AZD0530 in Treating Patients With Recurrent Locally Advanced or Metastatic Soft Tissue Sarcoma Completed NCT00659360 Phase 2 saracatinib
12 Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases Completed NCT00154388 Phase 2 Imatinib mesylate
13 To Find a Safe Dose and Show Early Clinical Activity of Weekly Nab-paclitaxel in Pediatric Patients With Recurrent/ Refractory Solid Tumors Active, not recruiting NCT01962103 Phase 1, Phase 2 nab-paclitaxel
14 Phase II Pazopanib Study in Advanced Dermatofibrosarcomas Terminated NCT01059656 Phase 2 Pazopanib
15 Intensity-Modulated Radiation Therapy in Treating Patients Undergoing Surgery for Stage IB, Stage II, or Stage III Soft Tissue Sarcoma Terminated NCT00740597 Phase 2
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 73 / NDF-RT 51 :


Cochrane evidence based reviews: dermatofibrosarcoma

Genetic Tests for Dermatofibrosarcoma Protuberans

Genetic tests related to Dermatofibrosarcoma Protuberans:

# Genetic test Affiliating Genes
1 Dermatofibrosarcoma Protuberans 29 PDGFB

Anatomical Context for Dermatofibrosarcoma Protuberans

MalaCards organs/tissues related to Dermatofibrosarcoma Protuberans:

41
Skin, Breast, Lung, Bone, Lymph Node, Endothelial, Pancreas

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

19
The Dermis Laryer Of The Skin

Publications for Dermatofibrosarcoma Protuberans

Articles related to Dermatofibrosarcoma Protuberans:

(show top 50) (show all 694)
# Title Authors Year
1
Dermatofibrosarcoma Protuberans of Distal Extremities and Acral Sites: A Clinicopathologic Analysis of 27 Cases. ( 29240584 )
2018
2
Dermatofibrosarcoma protuberans in pediatric patients: A diagnostic and management challenge. ( 29387771 )
2018
3
A Rare Case of Misdiagnosis: Recurrence of Dermatofibrosarcoma Protuberans That Was Treated Surgicallyas a Keloid. ( 29416224 )
2018
4
Dermatofibrosarcoma Protuberans: A Retrospective Study of Clinicopathological Features and Related Akt/mTOR, STAT3, ERK, Cyclin D1, and PD-L1 Expression. ( 29792909 )
2018
5
Reply to comment on: Orbital dermatofibrosarcoma protuberans with frontal and ethmoid sinus involvement: A case report and brief review of literature. ( 29380814 )
2018
6
Expression of aurora kinase A expression in dermatofibrosarcoma protuberans. ( 29682829 )
2018
7
A Rare Case of Dermatofibrosarcoma Protuberans of the Thumb in an 80-year-old Woman. ( 29531869 )
2018
8
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
9
A Unique Case of Dermatofibrosarcoma Protuberans With Melanocytic Differentiation. ( 29474191 )
2018
10
Hormone receptors analysis in Chinese patients with dermatofibrosarcoma protuberans. ( 29878374 )
2018
11
Relapse in dermatofibrosarcoma protuberans: A histological and molecular analysis. ( 29509956 )
2018
12
Dermatofibrosarcoma protuberans-A rare lesion on breast. ( 29517116 )
2018
13
Management of dermatofibrosarcoma protuberans of the face using lower trapezius musculocutaneous pedicle flap reconstruction: a case report. ( 29942467 )
2018
14
Lung Metastasis From Fibrosarcomatous Dermatofibrosarcoma Protuberans of the Vulva: A Rare Case Report. ( 29271862 )
2018
15
Comment on: Orbital dermatofibrosarcoma protuberans with frontal and ethmoid sinus involvement: A case report and brief review of literature. ( 29380813 )
2018
16
EGFR is involved in dermatofibrosarcoma protuberans progression to high grade sarcoma. ( 29492209 )
2018
17
Two childhood cases of pigmented dermatofibrosarcoma protuberans with atrophic change. ( 29336320 )
2018
18
Evaluation of p16 protein expression and CDKN2A deletion in conventional and fibrosarcomatous dermatofibrosarcoma protuberans. ( 29743142 )
2018
19
Dermatofibrosarcoma Protuberans: Retrospective Single Center Analysis Over 16 Years. ( 29483976 )
2018
20
Pigmented dermatofibrosarcoma protuberans associated with dermal melanocytosis. ( 29611228 )
2018
21
An unusual variant of atrophic dermatofibrosarcoma protuberans. ( 29723383 )
2018
22
Recurrent Dermatofibrosarcoma Protuberans of Scalp in a Distant Location 10 Years after Primary Excision. ( 29606823 )
2018
23
A favorable outcome of advanced dermatofibrosarcoma protuberans under treatment with sunitinib after imatinib failure. ( 29760553 )
2018
24
Recurrence case of rare scalp dermatofibrosarcoma protuberans: Two case reports of a wide radical excision, craniectomy bone involvement followed by cranioplasty and reconstruction. ( 28607816 )
2017
25
Dermatofibrosarcoma Protuberans Presenting as a Large Atrophic Plaque on the Chest. ( 28929166 )
2017
26
Acral dermatofibrosarcoma protuberans with myoid differentiation: A report of 2 cases. ( 28627712 )
2017
27
Dermatofibrosarcoma Protuberans. ( 29204401 )
2017
28
Toluidine Blue Stain of Dermatofibrosarcoma Protuberans: Highlighting Its Use in Mohs. ( 28346254 )
2017
29
Dermatofibrosarcoma protuberans. ( 28873112 )
2017
30
Diagnosis and Management of Dermatofibrosarcoma Protuberans in aA 3-Year-Old Patient. ( 28549894 )
2017
31
Dermatofibrosarcoma protuberans of the scalp: therapeutic challenges. ( 28513108 )
2017
32
Sequential development of dermatofibrosarcoma protuberans in the forehead and eyelid. ( 29217050 )
2017
33
Incidence and Outcomes of Dermatofibrosarcoma Protuberans in the US Pediatric Population. ( 27922973 )
2017
34
When Immunohistochemistry Deceives Us: The Pitfalls of CD34 and Factor XIIIa Stains in Dermatofibroma and Dermatofibrosarcoma Protuberans. ( 28270311 )
2017
35
Dermatofibrosarcoma protuberans coexisting in a patient with a vascular malformation-a rare coincidence. ( 29026517 )
2017
36
Subcutaneous dermatofibrosarcoma protuberans, a rare subtype with predilection for the head: A retrospective series of 18 cases. ( 28420485 )
2017
37
Association of patient demographic characteristics with Dermatofibrosarcoma Protuberans tumor size at diagnosis in the National Cancer Data Base. ( 28144941 )
2017
38
Programmed death-ligand 1 expression is associated with fibrosarcomatous transformation of dermatofibrosarcoma protuberans. ( 28515919 )
2017
39
Dermatofibrosarcoma Protuberans. ( 28795284 )
2017
40
The Immunological Roles of Periostin/Tumor-Associated Macrophage Axis in Development of Dermatofibrosarcoma Protuberans. ( 28551623 )
2017
41
Application of COL1A1-PDGFB fusion gene detection by fluorescence inA situ hybridization in biopsy tissue of dermatofibrosarcoma protuberans. ( 28150334 )
2017
42
Dermoscopy of uncommon variants of dermatofibrosarcoma protuberans. ( 28191686 )
2017
43
Dermatofibrosarcoma Protuberans in a 9-Year-Old Child. ( 28584757 )
2017
44
A single-institutional review of 68 patients with dermatofibrosarcoma protuberans: wide re-excision after inadequate previous surgery results in a high rate of local control. ( 28056985 )
2017
45
Dermatofibrosarcoma protuberans: when the age makes the difference. ( 28509521 )
2017
46
Unforeseen clonal evolution of tumor cell population in recurrent and metastatic dermatofibrosarcoma protuberans. ( 28977029 )
2017
47
Orbital dermatofibrosarcoma protuberans with frontal and ethmoid sinus involvement: A case report and brief review of literature. ( 28905843 )
2017
48
Phosphohistone-H3 and Ki67: Useful Markers in Differentiating Dermatofibroma From Dermatofibrosarcoma Protuberans and Atypical Fibrohistiocytic Lesions. ( 28609344 )
2017
49
Alteration of PDGFRI^-Akt-mTOR Pathway Signaling in Fibrosarcomatous Transformation of Dermatofibrosarcoma Protuberans. ( 28711648 )
2017
50
Dermatofibrosarcoma Protuberans: An Immunomarker Study of 57 Cases That Included Putative Mesenchymal Stem Cell Markers. ( 28362700 )
2017

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 8
2 COSM584 NRAS skin,trunk,benign melanocytic nevus,congenital c.182A>G p.Q61R 1:114713908-114713908 6
3 COSM476 BRAF skin,trunk,benign melanocytic nevus,congenital c.1799T>A p.V600E 7:140753336-140753336 6
4 COSM28757 GNAQ soft tissue,chest,haemangioma,congenital c.626A>T p.Q209L 9:77794572-77794572 4

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 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.9 CD34 F13A1 KIT PDGFB PDGFRA PDGFRB
2
Show member pathways
13.18 F13A1 KIT PDGFB PDGFRA PDGFRB TP53
3
Show member pathways
12.86 COL1A1 KIT PDGFB PDGFRA PDGFRB TP53
4
Show member pathways
12.74 COL1A1 KIT PDGFB PDGFRA PDGFRB TP53
5
Show member pathways
12.73 KIT PDGFB PDGFRA PDGFRB TP53
6 12.69 KIT PDGFB PDGFRA PDGFRB TP53
7 12.6 KIT PDGFB PDGFRA PDGFRB TP53
8
Show member pathways
12.55 KIT PDGFB PDGFRA PDGFRB TP53
9
Show member pathways
12.53 PDGFB PDGFRA PDGFRB TP53
10
Show member pathways
12.46 PDGFB PDGFRA PDGFRB TP53
11 12.29 PDGFB PDGFRA PDGFRB TP53
12
Show member pathways
12.27 KIT PDGFB PDGFRA PDGFRB
13 12.24 PDGFB PDGFRA PDGFRB TP53 VIM
14 11.85 F13A1 TP53 VIM
15 11.83 NES PDGFB PDGFRB VIM
16
Show member pathways
11.82 DES NES VIM
17 11.72 PDGFB PDGFRA PDGFRB
18 11.67 PDGFB PDGFRA PDGFRB TP53
19 11.59 ACTC1 DES VIM
20
Show member pathways
11.52 KIT PDGFRA PDGFRB
21 11.38 ACTC1 KIT PDGFRA
22 11.27 KIT PDGFRA PDGFRB TP53
23 11.26 PDGFB PDGFRA PDGFRB
24 11.25 NES PDGFB PDGFRA S100B VIM
25 10.79 PDGFB PDGFRA PDGFRB
26 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 extracellular space GO:0005615 9.87 ACTC1 APOD COL1A1 KIT PDGFB S100B
2 extracellular region GO:0005576 9.86 APOD CD34 COL1A1 F13A1 MMP11 PDGFB
3 cell surface GO:0009986 9.55 CD34 KIT PDGFB PDGFRA PDGFRB
4 cytoplasm GO:0005737 9.44 ACTC1 CD34 COL1A1 DES F13A1 KIT
5 platelet alpha granule lumen GO:0031093 9.13 F13A1 PDGFB SERPINA3

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

(show all 42)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.97 F13A1 KIT TP53 VIM
2 MAPK cascade GO:0000165 9.96 KIT PDGFB PDGFRA PDGFRB
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.93 KIT PDGFB PDGFRA PDGFRB
4 extracellular matrix organization GO:0030198 9.91 COL1A1 MMP11 PDGFB PDGFRA
5 peptidyl-tyrosine phosphorylation GO:0018108 9.88 KIT PDGFB PDGFRA PDGFRB
6 positive regulation of protein kinase B signaling GO:0051897 9.87 KIT PDGFB PDGFRA PDGFRB
7 platelet degranulation GO:0002576 9.86 F13A1 PDGFB SERPINA3
8 negative regulation of signal transduction GO:0009968 9.86 KIT PDGFRA PDGFRB
9 positive regulation of MAPK cascade GO:0043410 9.86 KIT PDGFB PDGFRA PDGFRB
10 wound healing GO:0042060 9.84 COL1A1 PDGFRA PDGFRB
11 hemopoiesis GO:0030097 9.81 CD34 KIT PDGFB
12 positive regulation of kinase activity GO:0033674 9.8 KIT PDGFRA PDGFRB
13 positive regulation of cell migration GO:0030335 9.8 COL1A1 KIT PDGFB PDGFRA PDGFRB
14 positive regulation of MAP kinase activity GO:0043406 9.79 KIT PDGFB PDGFRB
15 positive regulation of fibroblast proliferation GO:0048146 9.76 PDGFB PDGFRA PDGFRB
16 phosphatidylinositol phosphorylation GO:0046854 9.76 KIT PDGFB PDGFRA PDGFRB
17 positive regulation of gene expression GO:0010628 9.73 ACTC1 CD34 KIT PDGFB TP53 VIM
18 muscle filament sliding GO:0030049 9.72 ACTC1 DES VIM
19 positive regulation of smooth muscle cell migration GO:0014911 9.69 PDGFB PDGFRB
20 intermediate filament organization GO:0045109 9.68 DES VIM
21 positive regulation of calcium ion import GO:0090280 9.68 PDGFB PDGFRB
22 response to hyperoxia GO:0055093 9.67 COL1A1 PDGFRB
23 positive regulation of DNA biosynthetic process GO:2000573 9.67 PDGFB PDGFRB
24 platelet-derived growth factor receptor signaling pathway GO:0048008 9.67 PDGFB PDGFRA PDGFRB
25 cell chemotaxis GO:0060326 9.67 KIT PDGFB PDGFRA PDGFRB
26 positive regulation of chemotaxis GO:0050921 9.66 PDGFB PDGFRB
27 positive regulation of reactive oxygen species metabolic process GO:2000379 9.65 PDGFB PDGFRB TP53
28 stem cell proliferation GO:0072089 9.64 CD34 NES
29 negative regulation of platelet activation GO:0010544 9.64 PDGFB PDGFRA
30 retina vasculature development in camera-type eye GO:0061298 9.62 PDGFRA PDGFRB
31 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.62 KIT PDGFB PDGFRA PDGFRB
32 cardiac myofibril assembly GO:0055003 9.61 ACTC1 PDGFRA PDGFRB
33 paracrine signaling GO:0038001 9.6 CD34 PDGFB
34 positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway GO:0035793 9.54 PDGFB PDGFRB
35 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.52 PDGFRA PDGFRB
36 metanephric glomerular capillary formation GO:0072277 9.51 PDGFRA PDGFRB
37 positive regulation of phospholipase C activity GO:0010863 9.33 KIT PDGFRA PDGFRB
38 negative regulation of platelet-derived growth factor receptor-beta signaling pathway GO:2000587 9.13 PDGFB PDGFRA PDGFRB
39 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 8.92 KIT PDGFB PDGFRA PDGFRB
40 multicellular organism development GO:0007275 10.14 KIT MMP11 NES PDGFB PDGFRA PDGFRB
41 negative regulation of apoptotic process GO:0043066 10.05 ACTC1 KIT PDGFRA PDGFRB TP53
42 positive regulation of cell proliferation GO:0008284 10.04 KIT PDGFB PDGFRA PDGFRB S100B

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.95 COL1A1 DES PDGFB S100B TP53 VIM
2 protease binding GO:0002020 9.67 COL1A1 KIT TP53
3 MAP kinase kinase kinase activity GO:0004709 9.63 KIT PDGFRA PDGFRB
4 mitogen-activated protein kinase kinase binding GO:0031434 9.61 KIT PDGFRA PDGFRB
5 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.58 KIT PDGFRA PDGFRB
6 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.56 KIT PDGFB PDGFRA PDGFRB
7 growth factor binding GO:0019838 9.5 KIT PDGFRA PDGFRB
8 vascular endothelial growth factor binding GO:0038085 9.37 PDGFRA PDGFRB
9 platelet-derived growth factor receptor binding GO:0005161 9.33 PDGFB PDGFRA PDGFRB
10 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.26 KIT PDGFB PDGFRA PDGFRB
11 platelet-derived growth factor binding GO:0048407 8.92 COL1A1 PDGFB PDGFRA PDGFRB

Sources for Dermatofibrosarcoma Protuberans

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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64 QIAGEN
69 SNOMED-CT via HPO
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71 TGDB
72 Tocris
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74 UMLS via Orphanet
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