DFSP
MCID: DRM014
MIFTS: 63

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 57 12 53 25 59 29 55 6 15 40 72
Dermatofibrosarcoma 25 55 44 72
Dfsp 57 53 25 59
Giant Cell Fibroblastoma 57 53 72
Metastatic Dermatofibrosarcoma Protuberans 53 72
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:

Disease Ontology 12 DOID:3507
OMIM 57 607907
MeSH 44 D018223
MESH via Orphanet 45 C538219
ICD10 via Orphanet 34 C49.9
UMLS via Orphanet 73 C0392784
Orphanet 59 ORPHA31112
UMLS 72 C0206647 C0392784 C3665732 more

Summaries for Dermatofibrosarcoma Protuberans

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. In dermatofibrosarcoma protuberans, the tumor most often starts as a small, firm patch of skin, usually 1 to 5 centimeters in diameter, that is usually purplish, reddish, or flesh-colored. The tumor typically grows slowly and can become a raised nodule. Occasionally, the tumor begins as a flat or depressed patch of skin (plaque). Tumors are most commonly found on the torso and can also be found on the arms, legs, head, or neck. Affected individuals usually first show signs of this condition in their thirties, but the age at which a tumor appears varies widely. In dermatofibrosarcoma protuberans, the tumor has a tendency to return after being removed. However, it does not often spread to other parts of the body (metastasize). There are several variants of dermatofibrosarcoma protuberans in which different cell types are involved in the tumor. Bednar tumors, often called pigmented dermatofibrosarcoma protuberans, contain dark-colored (pigmented) cells called melanin-containing dendritic cells. Myxoid dermatofibrosarcoma protuberans tumors contain an abnormal type of connective tissue known as myxoid stroma. Giant cell fibroblastoma, which is sometimes referred to as juvenile dermatofibrosarcoma protuberans because it typically affects children and adolescents, is characterized by giant cells in the tumor. Rarely, the tumors involved in the different types of dermatofibrosarcoma protuberans can have regions that look similar to fibrosarcoma, a more aggressive type of soft tissue sarcoma. In these cases, the condition is called fibrosarcomatous dermatofibrosarcoma protuberans or FS-DFSP. FS-DFSP tumors are more likely to metastasize than tumors in the other types of dermatofibrosarcoma protuberans.

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 Ifosfamide and Mechlorethamine have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and lung, and related phenotypes are subcutaneous nodule and erythema

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.

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.

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)

Wikipedia : 75 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 334)
# Related Disease Score Top Affiliating Genes
1 bednar tumor 34.2 VIM S100B PDGFB COL1A1
2 myxofibrosarcoma 33.4 S100B DES
3 skin sarcoma 32.1 PDGFB COL1A1 CD34
4 ring chromosome 4 31.4 PDGFB COL1A1
5 primary familial brain calcification 31.2 PDGFRB PDGFB
6 meningioma, radiation-induced 31.1 VIM S100B PDGFB
7 adult fibrosarcoma 31.1 PDGFB COL1A1 CD34
8 perineurioma 31.0 VIM S100B KIT
9 malignant giant cell tumor of soft parts 30.9 S100B ACTC1
10 spindle cell sarcoma 30.9 VIM S100B DES ACTC1
11 spindle cell lipoma 30.9 VIM DES ACTC1
12 mesenchymal cell neoplasm 30.8 PDGFRA KIT CD34
13 histiocytoma 30.8 TP53 SERPINA3 KIT
14 monophasic synovial sarcoma 30.8 VIM S100B
15 myofibroma 30.7 PDGFRB F13A1 DES
16 cutaneous leiomyosarcoma 30.7 DES ACTC1
17 pseudosarcomatous fibromatosis 30.6 VIM DES CD34 ACTC1
18 myoepithelioma 30.6 VIM S100B ACTC1
19 sarcoma, synovial 30.5 VIM KIT DES
20 congenital fibrosarcoma 30.5 VIM DES ACTC1
21 dermis tumor 30.5 SERPINA3 PDGFB MMP11 COL1A1
22 infantile myofibromatosis 30.4 VIM PDGFRB DES ACTC1
23 neurofibroma 30.4 S100B PDGFRA KIT F13A1 CD34
24 fibromatosis 30.4 VIM KIT DES ACTC1
25 fibrous histiocytoma 30.3 VIM SERPINA3 S100B F13A1 DES ACTC1
26 osteochondroma 30.3 VIM S100B NES
27 meningioma, familial 30.3 TP53 PDGFB CD34
28 hypereosinophilic syndrome 30.2 PDGFRB PDGFRA KIT
29 cellular neurofibroma 30.2 TP53 PDGFRB CD34
30 sarcoma 30.2 VIM TP53 PDGFB KIT
31 malignant fibroxanthoma 30.2 VIM SERPINA3 S100B F13A1 DES ACTC1
32 liposarcoma 30.1 VIM TP53 DES CD34
33 malignant mesenchymoma 30.0 TP53 KIT DES
34 reticulum cell sarcoma 30.0 VIM DES ACTC1
35 granular cell tumor 30.0 VIM SERPINA3 S100B DES
36 hemangiopericytoma, malignant 30.0 VIM S100B F13A1 DES ACTC1
37 giant cell tumor 29.9 VIM SERPINA3 DES ACTC1
38 malignant giant cell tumor 29.9 TP53 S100B ACTC1
39 cutaneous fibrous histiocytoma 29.9 VIM SERPINA3 S100B PDGFB MMP11 F13A1
40 leukemia, chronic myeloid 29.8 PDGFRB PDGFRA KIT CD34
41 perivascular epithelioid cell tumor 29.7 VIM KIT DES ACTC1
42 leiomyoma 29.7 VIM KIT DES CD34 ACTC1
43 glomus tumor 29.4 VIM TP53 DES ACTC1
44 neurilemmoma 29.0 VIM S100B PDGFRA NES KIT DES
45 malignant peripheral nerve sheath tumor 28.5 VIM TP53 S100B PDGFRA KIT ACTC1
46 rhabdomyosarcoma 28.3 VIM TP53 PDGFRB PDGFRA DES ACTC1
47 adenoid cystic carcinoma 28.3 VIM TP53 SERPINA3 S100B KIT ACTC1
48 leiomyosarcoma 27.3 VIM TP53 S100B PDGFRB PDGFRA KIT
49 gastrointestinal stromal tumor 26.8 VIM TP53 S100B PDGFRB PDGFRA NES
50 undifferentiated pleomorphic sarcoma 11.9

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:

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 erythema 59 32 hallmark (90%) Very frequent (99-80%) HP:0010783
3 thickened skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001072
4 neoplasm of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008069
5 fibrosarcoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0100244
6 skin ulcer 59 32 frequent (33%) Frequent (79-30%) HP:0200042

Clinical features from OMIM:

607907

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

26
# 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:

46 (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
Ifosfamide Approved Phase 3 3778-73-2 3690
2
Mechlorethamine Approved, Investigational Phase 3 51-75-2 4033
3
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
4 Alkylating Agents Phase 3
5
Liposomal doxorubicin Phase 3 31703
6 Anti-Bacterial Agents Phase 3
7 Antibiotics, Antitubercular Phase 3
8 Topoisomerase Inhibitors Phase 3
9
Isophosphamide mustard Phase 3 0
10 Antineoplastic Agents, Alkylating Phase 3
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 2 60-18-4 6057
14
Saracatinib Investigational Phase 2 379231-04-6
15 Protein Kinase Inhibitors Phase 2
16 Imatinib Mesylate Phase 2 220127-57-1 123596
17 Angiogenesis Inhibitors Phase 2
18 Angiogenesis Modulating Agents Phase 2
19 Immunosuppressive Agents Phase 2
20 Antineoplastic Agents, Phytogenic Phase 1, Phase 2
21 taxane Phase 1, Phase 2
22 Tubulin Modulators Phase 1, Phase 2
23 Albumin-Bound Paclitaxel Phase 1, Phase 2
24 Antimitotic Agents Phase 1, Phase 2
25
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
26 Antibodies Phase 1
27 Immunoglobulins Phase 1
28 Antibodies, Monoclonal Phase 1
29 Immunologic Factors Phase 1
30 Antirheumatic Agents Phase 1

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 Localized Non-Rhabdomyosarcoma Soft Tissue Sarcomas Unknown status NCT00334854 Phase 3 doxorubicin hydrochloride;ifosfamide
2 Risk-Based Treatment for Non-Rhabdomyosarcoma Soft Tissue Sarcomas (NRSTS) in Patients Under 30 Years of Age Completed NCT00346164 Phase 3 doxorubicin hydrochloride;ifosfamide
3 Phase II Study of Glivec (Imatinib) in Locally Advanced and/or Metastatic Soft Tissue Sarcomas Expressing the t(17;22)(q22;q13) Translocation Resulting in a COL1A1/PDGF-beta Fusion Protein i.e. DermatoFibroSarcoma Protuberans (DFSP) and Giant Cell Fibroblastoma (GCF) Completed NCT00085475 Phase 2 imatinib mesylate
4 A Phase II Study of Imatinib (NSC-716051) in Patients With Locally Advanced or Metastatic Dermatofibrosarcoma Protuberans Completed NCT00084630 Phase 2 imatinib mesylate
5 Open-label Trial of Glivec® (Imatinib Mesylate) in Patients With Primary or Recurrent Dermatofibrosarcoma Protuberans Completed NCT00122473 Phase 1, Phase 2 Imatinib (Glivec)
6 Study of a Short Course of Neoadjuvant Gleevec (Imatinib Mesylate) in Dermatofibrosarcoma Protuberans Completed NCT00243191 Phase 2 imatinib mesylate
7 Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes Completed NCT00171912 Phase 2 imatinib mesylate
8 A Multicenter Phase II Study of Continuous Dosing of Sunitinib (Sutent®, SU11248) in Non-GIST Sarcomas Completed NCT00474994 Phase 2 sunitinib malate
9 Phase IIA Study of the Safety and Tolerability of the Use of Imatinib Mesylate (Gleevec) in the Treatment of Systemic Sclerosis Completed NCT00555581 Phase 2 Imatinib Mesylate
10 A Phase 2 Study of AZD0530 in Recurrent or Metastatic Soft Tissue Sarcoma Completed NCT00659360 Phase 2 saracatinib
11 A Phase 1/2, Multicenter, Open-label, Dose-finding Study to Assess the Safety, Tolerability, and Preliminary Efficacy of Weekly Nab-paclitaxel in Pediatric Patients With Recurrent or Refractory Solid Tumors. Completed NCT01962103 Phase 1, Phase 2 nab-paclitaxel;nab-paclitaxel
12 A Phase 1B/II Study of GDC-0449 (NSC 747691) in Combination With RO4929097, a Gamma-Secretase Inhibitor (GSI) in Advanced/Metastatic Sarcomas Completed NCT01154452 Phase 1, Phase 2 Gamma-Secretase Inhibitor RO4929097;Vismodegib
13 Phase II Study of Preoperative Intensity-Modulated Radiation Therapy for Soft-Tissue Sarcomas Terminated NCT00740597 Phase 2
14 A Phase IIa Open Multicenter, Trial, of Treatment With Pazopanib (Multi Tyrosine Kinase Inhibitor) in Dermatofibrosarcomas (DFSP), Unresectable Locally Advanced (Potentially Mutilating Surgery), Primary or Relapsing , Transformed or Not. Terminated NCT01059656 Phase 2 Pazopanib
15 A Phase 1 Study of Doxorubicin and A12 in Advanced Soft Tissue Sarcoma Completed NCT00720174 Phase 1 Doxorubicin Hydrochloride
16 Imatinib Mesylate And Cyclophosphamide In Metronomic Administration: Dose Escalation Study Of Imatinib Mesylate in Patient With Rare Tumor (Phase I Study) Completed NCT01046487 Phase 1 Imatinib mesylate, Cyclophosphamide (Dosing level 1 );Imatinib mesylate, Cyclophosphamide (Dosing level 2);Imatinib mesylate, Cyclophosphamide (Dosing level 3)
17 Retrospective Clinical Outcome Study of Pediatric Dermatofibrosarcoma Protuberans: Single Institutional Experience of Twelve Cases From 1977-2002 Unknown status NCT00173355
18 Lateral Arm Flap: Usage as Pedicle and Free Flap :A Case Series Completed NCT03763383
19 Treatment of Dermatofibrosarcoma Protuberans in Patients 10 Years and Younger Recruiting NCT03381846
20 Spanish Registry of Mohs Surgery [Registro Español de Cirugía de Mohs] Recruiting NCT02310503
21 Prevention of Mucositis in Children With AES-14 (IND#36978), a Glutamine Based Oral Care Regimen, for Patients Diagnosed With Solid Tumors: A Randomized Placebo-Controlled Clinical Study Withdrawn NCT00334984 glutamine

Search NIH Clinical Center for Dermatofibrosarcoma Protuberans

Inferred drug relations via UMLS 72 / NDF-RT 51 :


imatinib
Imatinib
Imatinib mesylate

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, Colon, Testes

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

19
Dermis Laryer Of The Skin

Publications for Dermatofibrosarcoma Protuberans

Articles related to Dermatofibrosarcoma Protuberans:

(show top 50) (show all 1709)
# Title Authors PMID Year
1
Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma. 38 8 71
8988177 1997
2
A novel fusion gene of collagen type I alpha 1 (exon 31) and platelet-derived growth factor B-chain (exon 2) in dermatofibrosarcoma protuberans. 9 38 8
17478383 2007
3
Dermatofibrosarcoma protuberans: a report on 29 patients treated by Mohs micrographic surgery with long-term follow-up and review of the literature. 38 8
15221986 2004
4
Genetics of dermatofibrosarcoma protuberans family of tumors: from ring chromosomes to tyrosine kinase inhibitor treatment. 38 8
12661001 2003
5
Dermatofibrosarcoma protuberans of breast. 38 8
12660034 2003
6
Molecular targeting of platelet-derived growth factor B by imatinib mesylate in a patient with metastatic dermatofibrosarcoma protuberans. 38 8
12202658 2002
7
Differential sensitivity to imatinib of 2 patients with metastatic sarcoma arising from dermatofibrosarcoma protuberans. 38 8
12209598 2002
8
Growth-inhibitory effect of STI571 on cells transformed by the COL1A1/PDGFB rearrangement. 38 8
11291071 2001
9
Structural and functional analysis of a chimeric protein COL1A1-PDGFB generated by the translocation t(17;22)(q22;q13.1) in Dermatofibrosarcoma protuberans (DP). 38 71
11420709 2001
10
Concomitant DNA copy number amplification at 17q and 22q in dermatofibrosarcoma protuberans. 38 8
11435686 2001
11
The dermatofibrosarcoma protuberans-associated collagen type Ialpha1/platelet-derived growth factor (PDGF) B-chain fusion gene generates a transforming protein that is processed to functional PDGF-BB. 38 71
10446987 1999
12
A familial dermatofibrosarcoma protuberans. 38 8
9738795 1998
13
A novel COL1A1 exon 14/PDGFB fusion gene in dermatofibrosarcoma protuberans. 9 38
20133221 2010
14
PDGFB quantification is a useful tool in the diagnosis of dermatofibrosarcoma protuberans: a study of 10 cases. 9 38
19663837 2010
15
Imatinib mesylate in advanced dermatofibrosarcoma protuberans: pooled analysis of two phase II clinical trials. 9 38
20194851 2010
16
Stromelysin-3 expression in the differential diagnosis of dermatofibroma and dermatofibrosarcoma protuberans: comparison with factor XIIIa and CD34. 9 38
17596171 2007
17
Detection of COL1A1-PDGFB fusion transcripts and PDGFB/PDGFRB mRNA expression in dermatofibrosarcoma protuberans. 9 38
17431412 2007
18
Dermatofibrosarcoma protuberans: clinicopathological aspects of an unusual cutaneous tumor. 9 38
17595787 2007
19
High proliferative activity excludes dermatofibroma: report of the utility of MIB-1 in the differential diagnosis of selected fibrohistiocytic tumors. 9 38
16740036 2006
20
Expression of CD163 in dermatofibroma, cellular fibrous histiocytoma, and dermatofibrosarcoma protuberans: comparison with CD68, CD34, and Factor XIIIa. 9 38
16640542 2006
21
Analysis of gene mutations in four cases of dermatofibrosarcoma protuberans. 9 38
16681596 2006
22
Dermatofibrosarcoma protuberans: report of a case with a variant ring chromosome and metastases following pregnancy. 9 38
16640548 2006
23
Aneurysmal bone cyst variant translocations upregulate USP6 transcription by promoter swapping with the ZNF9, COL1A1, TRAP150, and OMD genes. 9 38
15735689 2005
24
The development and application of imatinib. 9 38
15794712 2005
25
Molecular and clinical analysis of locally advanced dermatofibrosarcoma protuberans treated with imatinib: Imatinib Target Exploration Consortium Study B2225. 9 38
15681532 2005
26
Gene mutation analysis in five cases of dermatofibrosarcoma protuberans using formalin-fixed, paraffin-embedded tissues. 9 38
16040406 2005
27
Oncogenic derivatives of platelet-derived growth factor receptors. 9 38
15583853 2004
28
Differential expression of HMGA1 and HMGA2 in dermatofibroma and dermatofibrosarcoma protuberans: potential diagnostic applications, and comparison with histologic findings, CD34, and factor XIIIa immunoreactivity. 9 38
15249855 2004
29
[Imatinib--a new perspective in the treatment of tumors]. 9 38
15532894 2004
30
Analysis of gene mutations in three cases of dermatofibrosarcoma protuberans (DFSP): ordinary DFSP, DFSP with fibrosarcomatous lesion (DFSP-FS) and lung metastasis of DFSP-FS. 9 38
14643521 2003
31
Dermatofibrosarcoma protuberans with COL1A1 (exon 18) -PDGFB (exon 2) fusion transcript. 9 38
12786837 2003
32
EMA+ cells in dermatofibrosarcoma protuberans. A study of 11 tumors suggesting perineurial cell differentiation. 9 38
12426982 2002
33
Stromelysin 3 expression: a useful marker for the differential diagnosis dermatofibroma versus dermatofibrosarcoma protuberans. 9 38
11862177 2002
34
Immunohistochemical staining for KIT (CD117) in soft tissue sarcomas is very limited in distribution. 9 38
11865845 2002
35
A light microscopic and immunohistochemical evaluation of scars. 9 38
11841514 2002
36
Expression and localization of basic fibroblast growth factor and its mRNA in solitary fibrous tumor. 9 38
11598621 2001
37
S100A6 expression in fibrohistiocytic lesions. 9 38
11401666 2001
38
Tenascin differentiates dermatofibroma from dermatofibrosarcoma protuberans: comparison with CD34 and factor XIIIa. 9 38
11172295 2001
39
Stromelysin-3 (ST-3): immunohistochemical characterization of the matrix metalloproteinase (MMP)-11 in benign and malignant skin tumours and other skin disorders. 9 38
10233668 1999
40
Various regions within the alpha-helical domain of the COL1A1 gene are fused to the second exon of the PDGFB gene in dermatofibrosarcomas and giant-cell fibroblastomas. 9 38
9739023 1998
41
Transforming activity of the chimeric sequence formed by the fusion of collagen gene COL1A1 and the platelet derived growth factor b-chain gene in dermatofibrosarcoma protuberans. 9 38
9771975 1998
42
LN-2 (CD74). A marker to distinguish atypical fibroxanthoma from malignant fibrous histiocytoma. 9 38
9179057 1997
43
CD34 and factor-XIIIa immunoreactivity in dermatofibrosarcoma protuberans and dermatofibroma. 9 38
9129699 1997
44
Immunoreactivity for the human hematopoietic progenitor cell antigen (CD34) in lipomatous tumors. 9 38
9042286 1997
45
Giant cell fibroblastoma. New histological observations. 9 38
8879306 1996
46
Myoid differentiation in dermatofibrosarcoma protuberans and its fibrosarcomatous variant: clinicopathologic analysis of 5 cases. 9 38
8720984 1996
47
Dermatofibrosarcoma protuberans treated with Mohs surgery. A case with CD34 immunostaining variability. 9 38
8608381 1996
48
Atrophic variants of dermatofibroma and dermatofibrosarcoma protuberans. 9 38
7545142 1995
49
Dermatofibroma and dermatofibrosarcoma protuberans: differential expression of CD34 and factor XIIIa. 9 38
7528477 1994
50
Expression of the human hematopoietic progenitor cell antigen CD34 in dermatofibrosarcoma protuberans, other spindle cell tumors, and vascular lesions. 9 38
7506274 1994

Variations for Dermatofibrosarcoma Protuberans

ClinVar genetic disease variations for Dermatofibrosarcoma Protuberans:

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

Cosmic variations for Dermatofibrosarcoma Protuberans:

9 (show all 28)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM44956 TP53 soft tissue,upper leg,fibrosarcoma,NS c.808T>G p.F270V 17:7673812-7673812 6
2 COSM44467 TP53 soft tissue,upper leg,fibrosarcoma,NS c.497C>G p.S166* 17:7675115-7675115 6
3 COSM10663 TP53 soft tissue,upper leg,fibrosarcoma,NS c.916C>T p.R306* 17:7673704-7673704 6
4 COSM45500 TP53 soft tissue,upper leg,fibrosarcoma,NS c.281C>A p.S94* 17:7676088-7676088 6
5 COSM10758 TP53 soft tissue,upper leg,fibrosarcoma,NS c.659A>G p.Y220C 17:7674872-7674872 6
6 COSM43687 TP53 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 6
7 COSM44535 TP53 soft tissue,upper leg,fibrosarcoma,NS c.761T>A p.I254N 17:7674202-7674202 6
8 COSM11333 TP53 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 6
9 COSM11287 TP53 soft tissue,upper leg,fibrosarcoma,NS c.839G>T p.R280I 17:7673781-7673781 6
10 COSM4774989 SH2B3 soft tissue,upper leg,sarcoma,NS c.232G>A p.E78K 12:111418377-111418377 6
11 COSM5152 PTEN soft tissue,upper leg,fibrosarcoma,NS c.388C>T p.R130* 10:87933147-87933147 6
12 COSM6954536 NUP93 soft tissue,upper leg,sarcoma,NS c.116C>T p.A39V 16:56748363-56748363 6
13 COSM575 NRAS soft tissue,skin,sarcoma,NS c.38G>C p.G13A 1:114716123-114716123 6
14 COSM487 HRAS soft tissue,neck,sarcoma,NS c.37G>A p.G13S 11:534286-534286 6
15 COSM13604 CDKN2A soft tissue,upper leg,fibrosarcoma,NS c.202G>A p.A68T 9:21971157-21971157 6
16 COSM2923082 ANKRD11 soft tissue,upper leg,sarcoma,NS c.2882G>T p.R961L 16:89283660-89283660 6
17 COSM1640840 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 6
18 COSM307279 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 6
19 COSM2744872 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 6
20 COSM3937613 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 6
21 COSM307282 soft tissue,upper leg,sarcoma,NS c.362A>G p.H121R 17:7674890-7674890 6
22 COSM121082 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 6
23 COSM121084 soft tissue,upper leg,sarcoma,NS c.103C>T p.Q35* 17:7675113-7675113 6
24 COSM121083 soft tissue,upper leg,sarcoma,NS c.220C>T p.Q74* 17:7675113-7675113 6
25 COSM3388198 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 6
26 COSM121081 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 6
27 COSM307280 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 6
28 COSM307281 soft tissue,upper leg,sarcoma,NS c.245A>G p.H82R 17:7674890-7674890 6

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
13.91 VIM TP53 SERPINA3 S100B PDGFRB PDGFRA
2
Show member pathways
13.74 VIM TP53 PDGFRB PDGFRA PDGFB KIT
3
Show member pathways
13.2 VIM TP53 PDGFRB PDGFRA PDGFB KIT
4
Show member pathways
12.8 TP53 PDGFRB PDGFRA PDGFB KIT COL6A3
5
Show member pathways
12.78 PDGFRB PDGFRA PDGFB COL6A3 COL1A1
6
Show member pathways
12.74 TP53 PDGFRB PDGFRA PDGFB KIT
7 12.71 TP53 PDGFRB PDGFRA PDGFB KIT
8
Show member pathways
12.7 TP53 PDGFRB PDGFRA PDGFB KIT COL6A3
9 12.62 TP53 PDGFRB PDGFRA PDGFB KIT
10
Show member pathways
12.57 TP53 PDGFRB PDGFRA PDGFB KIT
11
Show member pathways
12.47 TP53 PDGFRB PDGFRA PDGFB
12 12.35 VIM TP53 PDGFRB PDGFRA PDGFB
13
Show member pathways
12.27 PDGFRB PDGFRA PDGFB KIT
14 12.23 TP53 PDGFRB PDGFRA PDGFB
15
Show member pathways
12.1 TP53 PDGFRB PDGFRA PDGFB KIT
16 11.9 VIM PDGFRB PDGFB NES
17 11.87 VIM TP53 F13A1
18
Show member pathways
11.84 VIM NES DES
19 11.78 TP53 PDGFRB PDGFRA PDGFB
20 11.73 PDGFRB PDGFRA PDGFB
21 11.6 VIM DES ACTC1
22 11.45 VIM S100B PDGFRA PDGFB NES
23 11.42 PDGFRA KIT ACTC1
24 11.4 TP53 PDGFRB PDGFRA KIT
25 11.32 PDGFRB PDGFRA PDGFB
26 10.94 PDGFRB PDGFRA PDGFB
27 10.46 VIM PDGFRB PDGFRA PDGFB KIT DES
28 10.07 PDGFRB PDGFRA PDGFB COL1A1

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 PDGFRB PDGFRA PDGFB KIT CD34
2 extracellular space GO:0005615 9.76 SERPINA3 S100B PDGFB KIT COL6A3 COL1A1
3 extracellular region GO:0005576 9.61 SERPINA3 S100B PDGFB MMP11 F13A1 COL6A3
4 platelet alpha granule lumen GO:0031093 9.43 SERPINA3 PDGFB F13A1
5 collagen-containing extracellular matrix GO:0062023 9.02 SERPINA3 PDGFB F13A1 COL6A3 COL1A1
6 cytoplasm GO:0005737 10.13 VIM TP53 S100B PDGFRB PDGFRA PDGFB

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

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 VIM TP53 S100B PDGFB DES COL1A1
2 protease binding GO:0002020 9.5 TP53 KIT COL1A1
3 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.43 PDGFRB PDGFRA KIT
4 vascular endothelial growth factor binding GO:0038085 9.16 PDGFRB PDGFRA
5 platelet-derived growth factor receptor binding GO:0005161 9.13 PDGFRB PDGFRA PDGFB
6 platelet-derived growth factor binding GO:0048407 8.92 PDGFRB PDGFRA PDGFB COL1A1

Sources for Dermatofibrosarcoma Protuberans

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....