DFSP
MCID: DRM014
MIFTS: 66

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 56 12 52 25 58 29 54 6 15 39 71
Dermatofibrosarcoma 25 54 43 71
Dfsp 56 52 25 58
Giant Cell Fibroblastoma 56 52 71
Metastatic Dermatofibrosarcoma Protuberans 52 71
Familial Dermatofibrosarcoma Protuberans 52
Darier-Hoffmann Tumor 25
Darier-Ferrand Tumor 25

Characteristics:

Orphanet epidemiological data:

58
dermatofibrosarcoma protuberans
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: All ages; Age of death: adult;

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:3507
OMIM 56 607907
MeSH 43 D018223
MESH via Orphanet 44 C538219
ICD10 via Orphanet 33 C49.9
UMLS via Orphanet 72 C0392784
Orphanet 58 ORPHA31112
UMLS 71 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 Mechlorethamine and Doxorubicin have been mentioned in the context of this disorder. Affiliated tissues include dermis laryer of the skin, skin and breast, 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 : 52 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 : 56 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 : 74 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 446)
# Related Disease Score Top Affiliating Genes
1 bednar tumor 34.4 VIM S100B PDGFB COL1A1
2 myxofibrosarcoma 33.6 S100B DES
3 skin sarcoma 32.1 PDGFB COL1A1 CD34
4 ring chromosome 32.0 TP53 PDGFB COL1A1
5 skin benign neoplasm 31.8 SERPINA3 COL1A1 CD34
6 rare tumor 31.6 KIT DES ACTC1
7 fibromatosis 31.5 VIM DES ACTC1
8 malignant mesenchymoma 31.5 SERPINA3 DES CD34
9 fibrous histiocytoma 31.3 VIM SERPINA3 S100B F13A1 DES CD34
10 ring chromosome 4 31.2 PDGFB COL1A1
11 spindle cell sarcoma 31.2 VIM SERPINA3 S100B DES CD34 ACTC1
12 meningioma, radiation-induced 31.2 VIM S100B PDGFB
13 malignant fibroxanthoma 31.2 VIM SERPINA3 PDGFRB F13A1 DES CD34
14 malignant giant cell tumor 31.1 S100B ACTC1
15 spindle cell lipoma 31.1 VIM DES CD34 ACTC1
16 breast fibroadenoma 31.1 TP53 SERPINA3 CD34
17 lipomatosis, multiple 31.1 SERPINA3 KIT DES CD34
18 vulvar sarcoma 31.0 CD34 ACTC1
19 monophasic synovial sarcoma 31.0 VIM S100B CD34
20 cutaneous fibrous histiocytoma 31.0 VIM SERPINA3 S100B S100A1 PDGFB MMP11
21 malignant giant cell tumor of soft parts 31.0 S100B CD34 ACTC1
22 fasciitis 30.9 VIM TP53 DES CD34 ACTC1
23 pleomorphic lipoma 30.9 SERPINA3 CD34
24 fibroma 30.9 VIM SERPINA3 S100A1 F13A1 DES CD34
25 cutaneous leiomyosarcoma 30.9 S100B DES ACTC1
26 histiocytoma 30.8 VIM TP53 SERPINA3 KIT CDKN2A CD34
27 pseudosarcomatous fibromatosis 30.8 VIM SERPINA3 DES COL1A1 CD34 ACTC1
28 infantile myofibromatosis 30.8 VIM PDGFRB DES CD34 ACTC1
29 liposarcoma 30.8 VIM TP53 PDGFRA DES CDKN2A CD34
30 neuroma 30.8 SERPINA3 S100B CD34
31 fibrosarcoma 30.8 VIM TP53 PDGFRA PDGFB KIT DES
32 alveolar soft part sarcoma 30.7 VIM PDGFRB DES ACTC1
33 myoepithelioma 30.7 VIM S100B S100A1 ACTC1
34 dermis tumor 30.7 SERPINA3 PDGFB MMP11 COL1A1 CD34
35 chondrosarcoma 30.6 VIM SERPINA3 S100B S100A1
36 hemangioma 30.6 TP53 PDGFB KIT CD34 ACTC1
37 basal cell carcinoma 30.5 TP53 MMP11 KIT CDKN2A CD34
38 osteochondroma 30.5 VIM S100B NES
39 myofibroma 30.5 SERPINA3 S100A1 F13A1 DES CD34
40 giant cell tumor 30.5 VIM SERPINA3 S100B DES ACTC1
41 mesenchymal cell neoplasm 30.5 TP53 SERPINA3 PDGFRB PDGFRA KIT CD34
42 connective tissue benign neoplasm 30.5 TP53 SERPINA3 PDGFRB KIT CD34
43 granular cell tumor 30.5 VIM SERPINA3 S100B S100A1 DES
44 congenital fibrosarcoma 30.4 VIM SERPINA3 S100A1 DES ACTC1
45 merkel cell carcinoma 30.4 TP53 PDGFRA KIT CDKN2A
46 perineurioma 30.4 VIM S100B S100A1 PDGFRA KIT ACTC1
47 nodular malignant melanoma 30.3 TP53 KIT CDKN2A
48 angiosarcoma 30.3 VIM TP53 KIT CD34
49 sarcoma 30.3 VIM TP53 S100B PDGFRB PDGFRA PDGFB
50 sarcoma, synovial 30.2 VIM SERPINA3 S100B NES KIT DES

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:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001482
2 erythema 58 31 hallmark (90%) Very frequent (99-80%) HP:0010783
3 thickened skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001072
4 neoplasm of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008069
5 fibrosarcoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0100244
6 skin ulcer 58 31 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 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 10.34 PDGFRA
2 Decreased viability GR00221-A-1 10.34 ABL1 CDKN2A KIT PDGFRA PDGFRB
3 Decreased viability GR00221-A-2 10.34 ABL1 PDGFB
4 Decreased viability GR00221-A-3 10.34 ABL1 CDKN2A PDGFRA PDGFRB PDGFB
5 Decreased viability GR00221-A-4 10.34 CDKN2A PDGFRA PDGFRB
6 Decreased viability GR00240-S-1 10.34 PDGFB
7 Decreased viability GR00301-A 10.34 KIT
8 Decreased viability GR00342-S-1 10.34 ABL1 PDGFRB
9 Decreased viability GR00342-S-2 10.34 ABL1
10 Decreased viability GR00342-S-3 10.34 ABL1
11 Decreased viability GR00402-S-2 10.34 ABL1 CDKN2A KIT PDGFRA PDGFRB PDGFB
12 Decreased substrate adherent cell growth GR00193-A-1 9.81 KIT PDGFB
13 Decreased substrate adherent cell growth GR00193-A-2 9.81 ABL1 KIT PDGFB
14 Decreased substrate adherent cell growth GR00193-A-3 9.81 PDGFB
15 Decreased substrate adherent cell growth GR00193-A-4 9.81 ABL1 KIT PDGFB
16 Decreased viability in esophageal squamous lineage GR00235-A 9.4 ABL1 APOD CDKN2A COL6A3 DES KIT

MGI Mouse Phenotypes related to Dermatofibrosarcoma Protuberans:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.4 ABL1 ACTC1 APOD CDKN2A COL1A1 DES
2 homeostasis/metabolism MP:0005376 10.39 ABL1 ACTC1 APOD CD34 CDKN2A COL1A1
3 cellular MP:0005384 10.32 ABL1 ACTC1 CD34 CDKN2A COL1A1 COL6A3
4 behavior/neurological MP:0005386 10.31 ABL1 APOD CDKN2A COL1A1 DES KIT
5 hematopoietic system MP:0005397 10.22 ABL1 CD34 CDKN2A COL1A1 F13A1 KIT
6 mortality/aging MP:0010768 10.22 ABL1 ACTC1 APOD CDKN2A COL1A1 DES
7 muscle MP:0005369 10.18 ABL1 ACTC1 CDKN2A COL1A1 COL6A3 DES
8 embryo MP:0005380 10.15 ABL1 CDKN2A COL1A1 KIT PDGFB PDGFRA
9 integument MP:0010771 10.13 CD34 CDKN2A COL1A1 KIT MMP11 PDGFB
10 normal MP:0002873 9.91 ABL1 ACTC1 COL1A1 KIT PDGFRA PDGFRB
11 neoplasm MP:0002006 9.87 CD34 CDKN2A COL1A1 KIT MMP11 PDGFRA
12 respiratory system MP:0005388 9.65 ABL1 CDKN2A COL1A1 F13A1 KIT PDGFB
13 pigmentation MP:0001186 9.63 CDKN2A COL1A1 KIT PDGFB PDGFRA TP53
14 vision/eye MP:0005391 9.32 ABL1 CDKN2A COL1A1 COL6A3 KIT MMP11

Drugs & Therapeutics for Dermatofibrosarcoma Protuberans

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

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mechlorethamine Approved, Investigational Phase 3 51-75-2 4033
2
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
3
Ifosfamide Approved Phase 3 3778-73-2 3690
4 Alkylating Agents Phase 3
5 Anti-Bacterial Agents Phase 3
6 Antibiotics, Antitubercular Phase 3
7 Topoisomerase Inhibitors Phase 3
8
Liposomal doxorubicin Phase 3 31703
9
Isophosphamide mustard Phase 3 0
10
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
11
Paclitaxel Approved, Vet_approved Phase 1, Phase 2 33069-62-4 36314
12
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
13
Saracatinib Investigational Phase 2 379231-04-6
14 Imatinib Mesylate Phase 2 220127-57-1 123596
15 Protein Kinase Inhibitors Phase 2
16 Angiogenesis Inhibitors Phase 2
17 Immunosuppressive Agents Phase 2
18 Albumin-Bound Paclitaxel Phase 1, Phase 2
19 Antimitotic Agents Phase 1, Phase 2
20 taxane Phase 1, Phase 2
21
Cyclophosphamide Approved, Investigational Phase 1 6055-19-2, 50-18-0 2907
22 Antibodies, Monoclonal Phase 1
23 Immunoglobulins Phase 1
24 Antibodies Phase 1
25 Immunologic Factors Phase 1
26 Antirheumatic Agents Phase 1

Interventional clinical trials:

(show all 22)
# 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 Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases Completed NCT00154388 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 A Multicenter Phase II Study of Continuous Dosing of Sunitinib (Sutent®, SU11248) in Non-GIST Sarcomas Completed NCT00474994 Phase 2 sunitinib malate
10 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
11 A Phase 2 Study of AZD0530 in Recurrent or Metastatic Soft Tissue Sarcoma Completed NCT00659360 Phase 2 saracatinib
12 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
13 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
14 Phase II Study of Preoperative Intensity-Modulated Radiation Therapy for Soft-Tissue Sarcomas Terminated NCT00740597 Phase 2
15 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
16 A Phase 1 Study of Doxorubicin and A12 in Advanced Soft Tissue Sarcoma Completed NCT00720174 Phase 1 Doxorubicin Hydrochloride
17 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)
18 Retrospective Clinical Outcome Study of Pediatric Dermatofibrosarcoma Protuberans: Single Institutional Experience of Twelve Cases From 1977-2002 Unknown status NCT00173355
19 Lateral Arm Flap: Usage as Pedicle and Free Flap :A Case Series Completed NCT03763383
20 Treatment of Dermatofibrosarcoma Protuberans in Patients 10 Years and Younger Recruiting NCT03381846
21 Spanish Registry of Mohs Surgery [Registro Español de Cirugía de Mohs] Recruiting NCT02310503
22 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 71 / NDF-RT 50 :


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

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

19
Dermis Laryer Of The Skin

MalaCards organs/tissues related to Dermatofibrosarcoma Protuberans:

40
Skin, Breast, Lung, Bone, Lymph Node, Colon, Testes

Publications for Dermatofibrosarcoma Protuberans

Articles related to Dermatofibrosarcoma Protuberans:

(show top 50) (show all 1735)
# 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. 61 56 6
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. 56 61 54
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. 61 56
15221986 2004
4
Genetics of dermatofibrosarcoma protuberans family of tumors: from ring chromosomes to tyrosine kinase inhibitor treatment. 61 56
12661001 2003
5
Dermatofibrosarcoma protuberans of breast. 61 56
12660034 2003
6
Molecular targeting of platelet-derived growth factor B by imatinib mesylate in a patient with metastatic dermatofibrosarcoma protuberans. 56 61
12202658 2002
7
Differential sensitivity to imatinib of 2 patients with metastatic sarcoma arising from dermatofibrosarcoma protuberans. 56 61
12209598 2002
8
Growth-inhibitory effect of STI571 on cells transformed by the COL1A1/PDGFB rearrangement. 56 61
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). 6 61
11420709 2001
10
Concomitant DNA copy number amplification at 17q and 22q in dermatofibrosarcoma protuberans. 61 56
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. 6 61
10446987 1999
12
A familial dermatofibrosarcoma protuberans. 61 56
9738795 1998
13
A novel COL1A1 exon 14/PDGFB fusion gene in dermatofibrosarcoma protuberans. 61 54
20133221 2010
14
Imatinib mesylate in advanced dermatofibrosarcoma protuberans: pooled analysis of two phase II clinical trials. 54 61
20194851 2010
15
PDGFB quantification is a useful tool in the diagnosis of dermatofibrosarcoma protuberans: a study of 10 cases. 54 61
19663837 2010
16
Stromelysin-3 expression in the differential diagnosis of dermatofibroma and dermatofibrosarcoma protuberans: comparison with factor XIIIa and CD34. 54 61
17596171 2007
17
Detection of COL1A1-PDGFB fusion transcripts and PDGFB/PDGFRB mRNA expression in dermatofibrosarcoma protuberans. 61 54
17431412 2007
18
Dermatofibrosarcoma protuberans: clinicopathological aspects of an unusual cutaneous tumor. 54 61
17595787 2007
19
High proliferative activity excludes dermatofibroma: report of the utility of MIB-1 in the differential diagnosis of selected fibrohistiocytic tumors. 54 61
16740036 2006
20
Analysis of gene mutations in four cases of dermatofibrosarcoma protuberans. 54 61
16681596 2006
21
Dermatofibrosarcoma protuberans: report of a case with a variant ring chromosome and metastases following pregnancy. 54 61
16640548 2006
22
Expression of CD163 in dermatofibroma, cellular fibrous histiocytoma, and dermatofibrosarcoma protuberans: comparison with CD68, CD34, and Factor XIIIa. 54 61
16640542 2006
23
Aneurysmal bone cyst variant translocations upregulate USP6 transcription by promoter swapping with the ZNF9, COL1A1, TRAP150, and OMD genes. 54 61
15735689 2005
24
The development and application of imatinib. 54 61
15794712 2005
25
Molecular and clinical analysis of locally advanced dermatofibrosarcoma protuberans treated with imatinib: Imatinib Target Exploration Consortium Study B2225. 54 61
15681532 2005
26
Gene mutation analysis in five cases of dermatofibrosarcoma protuberans using formalin-fixed, paraffin-embedded tissues. 61 54
16040406 2005
27
Oncogenic derivatives of platelet-derived growth factor receptors. 61 54
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. 61 54
15249855 2004
29
[Imatinib--a new perspective in the treatment of tumors]. 54 61
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. 54 61
14643521 2003
31
Dermatofibrosarcoma protuberans with COL1A1 (exon 18) -PDGFB (exon 2) fusion transcript. 61 54
12786837 2003
32
EMA+ cells in dermatofibrosarcoma protuberans. A study of 11 tumors suggesting perineurial cell differentiation. 54 61
12426982 2002
33
Stromelysin 3 expression: a useful marker for the differential diagnosis dermatofibroma versus dermatofibrosarcoma protuberans. 54 61
11862177 2002
34
Immunohistochemical staining for KIT (CD117) in soft tissue sarcomas is very limited in distribution. 54 61
11865845 2002
35
A light microscopic and immunohistochemical evaluation of scars. 61 54
11841514 2002
36
Expression and localization of basic fibroblast growth factor and its mRNA in solitary fibrous tumor. 61 54
11598621 2001
37
S100A6 expression in fibrohistiocytic lesions. 54 61
11401666 2001
38
Tenascin differentiates dermatofibroma from dermatofibrosarcoma protuberans: comparison with CD34 and factor XIIIa. 54 61
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. 61 54
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. 61 54
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. 54 61
9771975 1998
42
LN-2 (CD74). A marker to distinguish atypical fibroxanthoma from malignant fibrous histiocytoma. 61 54
9179057 1997
43
CD34 and factor-XIIIa immunoreactivity in dermatofibrosarcoma protuberans and dermatofibroma. 61 54
9129699 1997
44
Immunoreactivity for the human hematopoietic progenitor cell antigen (CD34) in lipomatous tumors. 54 61
9042286 1997
45
Giant cell fibroblastoma. New histological observations. 54 61
8879306 1996
46
Myoid differentiation in dermatofibrosarcoma protuberans and its fibrosarcomatous variant: clinicopathologic analysis of 5 cases. 54 61
8720984 1996
47
Dermatofibrosarcoma protuberans treated with Mohs surgery. A case with CD34 immunostaining variability. 54 61
8608381 1996
48
Atrophic variants of dermatofibroma and dermatofibrosarcoma protuberans. 61 54
7545142 1995
49
Dermatofibroma and dermatofibrosarcoma protuberans: differential expression of CD34 and factor XIIIa. 54 61
7528477 1994
50
Expression of the human hematopoietic progenitor cell antigen CD34 in dermatofibrosarcoma protuberans, other spindle cell tumors, and vascular lesions. 61 54
7506274 1994

Variations for Dermatofibrosarcoma Protuberans

ClinVar genetic disease variations for Dermatofibrosarcoma Protuberans:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PDGFB PDGFB, PDGFB/COL1A1 FUSIONundetermined variant Pathogenic 12599
2 PDGFB NM_002608.4(PDGFB):c.670C>T (p.Arg224Trp)SNV Uncertain significance 522278 rs146468845 22:39621784-39621784 22:39225779-39225779
3 PDGFB NM_002608.4(PDGFB):c.635C>T (p.Thr212Met)SNV Benign 522279 rs114786489 22:39621819-39621819 22:39225814-39225814
4 PDGFB NM_002608.4(PDGFB):c.160+15C>ASNV Benign 522280 rs17303681 22:39631768-39631768 22:39235763-39235763

Cosmic variations for Dermatofibrosarcoma Protuberans:

9 (show top 50) (show all 188)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM87898818 TP53 soft tissue,lower leg,fibrosarcoma,NS c.916C>T p.R306* 17:7673704-7673704 6
2 COSM87917769 TP53 soft tissue,lower leg,fibrosarcoma,NS c.808T>G p.F270V 17:7673812-7673812 6
3 COSM87906724 TP53 soft tissue,lower leg,fibrosarcoma,NS c.281C>A p.S94* 17:7676088-7676088 6
4 COSM87897883 TP53 soft tissue,lower leg,fibrosarcoma,NS c.659A>G p.Y220C 17:7674872-7674872 6
5 COSM87928142 TP53 soft tissue,lower leg,fibrosarcoma,NS c.497C>G p.S166* 17:7675115-7675115 6
6 COSM87902864 TP53 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 6
7 COSM87905212 TP53 soft tissue,lower leg,fibrosarcoma,NS c.761T>A p.I254N 17:7674202-7674202 6
8 COSM87912206 TP53 soft tissue,lower leg,fibrosarcoma,NS c.839G>T p.R280I 17:7673781-7673781 6
9 COSM87935416 TP53 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 6
10 COSM92479334 SH2B3 soft tissue,upper leg,sarcoma,NS c.232G>A p.E78K 12:111418377-111418377 6
11 COSM96842497 PTEN soft tissue,lower leg,fibrosarcoma,NS c.388C>T p.R130* 10:87933147-87933147 6
12 COSM88525472 NUP93 soft tissue,upper leg,sarcoma,NS c.116C>T p.A39V 16:56748363-56748363 6
13 COSM97107943 NRAS soft tissue,skin,sarcoma,NS c.38G>C p.G13A 1:114716123-114716123 6
14 COSM112988906 HRAS soft tissue,neck,sarcoma,NS c.37G>A p.G13S 11:534286-534286 6
15 COSM119230368 CDKN2A soft tissue,lower leg,fibrosarcoma,NS c.202G>A p.A68T 9:21971157-21971157 6
16 COSM87618826 ANKRD11 soft tissue,upper leg,sarcoma,NS c.2882G>T p.R961L 16:89283660-89283660 6
17 COSM122734486 soft tissue,lower leg,fibrosarcoma,NS c.520C>T p.R174* 17:7673704-7673704 6
18 COSM122734046 soft tissue,lower leg,fibrosarcoma,NS c.263A>G p.Y88C 17:7674872-7674872 6
19 COSM106064989 soft tissue,lower leg,fibrosarcoma,NS c.839G>T p.R280I 17:7673781-7673781 6
20 COSM145025236 soft tissue,lower leg,fibrosarcoma,NS c.164C>A p.S55* 17:7676088-7676088 6
21 COSM111758374 soft tissue,lower leg,fibrosarcoma,NS c.659A>G p.Y220C 17:7674872-7674872 6
22 COSM142855718 soft tissue,lower leg,fibrosarcoma,NS c.497C>G p.S166* 17:7675115-7675115 6
23 COSM101951669 soft tissue,neck,sarcoma,NS c.37G>A p.G13S 11:534286-534286 6
24 COSM122271391 soft tissue,lower leg,fibrosarcoma,NS c.263A>G p.Y88C 17:7674872-7674872 6
25 COSM112259092 soft tissue,lower leg,fibrosarcoma,NS c.761T>A p.I254N 17:7674202-7674202 6
26 COSM143370705 soft tissue,lower leg,fibrosarcoma,NS c.542A>G p.Y181C 17:7674872-7674872 6
27 COSM106056882 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 6
28 COSM111763021 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 6
29 COSM105626718 soft tissue,lower leg,fibrosarcoma,NS c.761T>A p.I254N 17:7674202-7674202 6
30 COSM143388755 soft tissue,lower leg,fibrosarcoma,NS c.691T>G p.F231V 17:7673812-7673812 6
31 COSM142841840 soft tissue,lower leg,fibrosarcoma,NS c.761T>A p.I254N 17:7674202-7674202 6
32 COSM144650895 soft tissue,lower leg,fibrosarcoma,NS c.542A>G p.Y181C 17:7674872-7674872 6
33 COSM105620035 soft tissue,lower leg,fibrosarcoma,NS c.659A>G p.Y220C 17:7674872-7674872 6
34 COSM112279332 soft tissue,lower leg,fibrosarcoma,NS c.497C>G p.S166* 17:7675115-7675115 6
35 COSM144313682 soft tissue,upper leg,sarcoma,NS c.524A>G p.H175R 17:7674890-7674890 6
36 COSM144310566 soft tissue,lower leg,fibrosarcoma,NS c.799C>T p.R267* 17:7673704-7673704 6
37 COSM143156731 soft tissue,lower leg,fibrosarcoma,NS c.182A>G p.Y61C 17:7674872-7674872 6
38 COSM93189470 soft tissue,lower leg,fibrosarcoma,NS c.761T>A p.I254N 17:7674202-7674202 6
39 COSM105650062 soft tissue,lower leg,fibrosarcoma,NS c.497C>G p.S166* 17:7675115-7675115 6
40 COSM144323948 soft tissue,lower leg,fibrosarcoma,NS c.691T>G p.F231V 17:7673812-7673812 6
41 COSM121894236 soft tissue,lower leg,fibrosarcoma,NS c.412T>G p.F138V 17:7673812-7673812 6
42 COSM106053540 soft tissue,lower leg,fibrosarcoma,NS c.916C>T p.R306* 17:7673704-7673704 6
43 COSM122750181 soft tissue,lower leg,fibrosarcoma,NS c.412T>G p.F138V 17:7673812-7673812 6
44 COSM105659131 soft tissue,upper leg,sarcoma,NS c.499C>T p.Q167* 17:7675113-7675113 6
45 COSM144319660 soft tissue,lower leg,fibrosarcoma,NS c.722G>T p.R241I 17:7673781-7673781 6
46 COSM121883167 soft tissue,lower leg,fibrosarcoma,NS c.365T>A p.I122N 17:7674202-7674202 6
47 COSM93187807 soft tissue,upper leg,sarcoma,NS c.641A>G p.H214R 17:7674890-7674890 6
48 COSM106060329 soft tissue,lower leg,fibrosarcoma,NS c.281C>A p.S94* 17:7676088-7676088 6
49 COSM145017479 soft tissue,lower leg,fibrosarcoma,NS c.542A>G p.Y181C 17:7674872-7674872 6
50 COSM143943655 soft tissue,lower leg,fibrosarcoma,NS c.182A>G p.Y61C 17:7674872-7674872 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 33)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.97 VIM TP53 SERPINA3 S100B S100A1 PDGFRB
2
Show member pathways
13.74 VIM TP53 PDGFRB PDGFRA PDGFB KIT
3
Show member pathways
13.3 VIM TP53 PDGFRB PDGFRA PDGFB KIT
4
Show member pathways
12.98 TP53 PDGFRB PDGFRA PDGFB KIT COL6A3
5
Show member pathways
12.87 TP53 PDGFRB PDGFRA PDGFB KIT COL6A3
6
Show member pathways
12.72 TP53 PDGFRB PDGFRA PDGFB KIT CDKN2A
7 12.71 TP53 PDGFRB PDGFRA PDGFB KIT
8
Show member pathways
12.68 PDGFRB PDGFRA PDGFB KIT ABL1
9
Show member pathways
12.67 TP53 PDGFRB PDGFRA PDGFB KIT
10 12.67 TP53 PDGFRB PDGFRA PDGFB KIT CDKN2A
11
Show member pathways
12.62 TP53 PDGFRB PDGFRA PDGFB CDKN2A
12
Show member pathways
12.56 TP53 PDGFRB PDGFRA PDGFB ABL1
13
Show member pathways
12.35 PDGFRB PDGFRA PDGFB KIT
14
Show member pathways
12.14 TP53 PDGFRB PDGFRA PDGFB KIT ABL1
15 12.06 PDGFRB PDGFRA KIT ABL1
16 11.99 VIM PDGFRB PDGFB NES
17 11.99 VIM TP53 PDGFRB PDGFRA PDGFB CDKN2A
18 11.78 PDGFRB PDGFRA PDGFB
19 11.76 TP53 PDGFRB PDGFRA PDGFB CDKN2A
20 11.68 VIM DES ACTC1
21 11.62 TP53 PDGFRB PDGFRA KIT
22 11.53 PDGFRB PDGFB ABL1
23 11.52 PDGFRA KIT ACTC1
24 11.49 TP53 PDGFRA CDKN2A
25 11.45 VIM S100B PDGFRA PDGFB NES
26 11.4 PDGFRB PDGFRA PDGFB
27
Show member pathways
11.39 PDGFRB PDGFRA KIT ABL1
28
Show member pathways
11.27 PDGFRB PDGFRA KIT
29 11.07 PDGFRB PDGFRA PDGFB
30
Show member pathways
11.04 TP53 CDKN2A ABL1
31 11.03 TP53 CDKN2A ABL1
32 10.76 VIM PDGFRB PDGFRA PDGFB KIT DES
33 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 extracellular space GO:0005615 9.81 SERPINA3 S100B PDGFB MMP11 KIT COL6A3
2 collagen-containing extracellular matrix GO:0062023 9.65 SERPINA3 PDGFB F13A1 COL6A3 COL1A1
3 extracellular region GO:0005576 9.65 SERPINA3 S100B S100A1 PDGFB MMP11 F13A1
4 cytoplasm GO:0005737 9.55 VIM TP53 S100B S100A1 PDGFRB PDGFRA
5 platelet alpha granule lumen GO:0031093 9.54 SERPINA3 PDGFB F13A1
6 intermediate filament cytoskeleton GO:0045111 9.5 VIM NES DES

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

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.99 TP53 S100B PDGFRB CDKN2A ABL1
2 MAPK cascade GO:0000165 9.96 PDGFRB PDGFRA PDGFB KIT
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.94 PDGFRB PDGFRA PDGFB ABL1
4 positive regulation of cell migration GO:0030335 9.92 PDGFRB PDGFRA PDGFB KIT COL1A1
5 positive regulation of protein kinase B signaling GO:0051897 9.91 PDGFRB PDGFRA PDGFB KIT
6 protein autophosphorylation GO:0046777 9.91 PDGFRB PDGFRA KIT ABL1
7 extracellular matrix organization GO:0030198 9.89 PDGFRA PDGFB MMP11 COL6A3 COL1A1
8 hemopoiesis GO:0030097 9.83 PDGFB KIT CD34
9 wound healing GO:0042060 9.81 TP53 PDGFRB PDGFRA COL1A1
10 positive regulation of MAP kinase activity GO:0043406 9.8 PDGFRB PDGFB KIT
11 cell chemotaxis GO:0060326 9.78 PDGFRB PDGFRA PDGFB KIT
12 positive regulation of fibroblast proliferation GO:0048146 9.77 PDGFRB PDGFRA PDGFB
13 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.76 PDGFRB PDGFRA PDGFB KIT
14 muscle filament sliding GO:0030049 9.75 VIM DES ACTC1
15 positive regulation of reactive oxygen species metabolic process GO:2000379 9.71 TP53 PDGFRB PDGFB
16 positive regulation of gene expression GO:0010628 9.7 VIM TP53 PDGFB KIT CDKN2A CD34
17 hematopoietic progenitor cell differentiation GO:0002244 9.67 TP53 PDGFRB PDGFRA KIT
18 somatic stem cell division GO:0048103 9.66 KIT CDKN2A
19 stem cell proliferation GO:0072089 9.65 NES CD34
20 negative regulation of ubiquitin-protein transferase activity GO:0051444 9.65 CDKN2A ABL1
21 peptidyl-tyrosine phosphorylation GO:0018108 9.65 PDGFRB PDGFRA PDGFB KIT ABL1
22 negative regulation of platelet activation GO:0010544 9.64 PDGFRA PDGFB
23 retina vasculature development in camera-type eye GO:0061298 9.63 PDGFRB PDGFRA
24 Bergmann glial cell differentiation GO:0060020 9.63 VIM ABL1
25 paracrine signaling GO:0038001 9.62 PDGFB CD34
26 response to hyperoxia GO:0055093 9.61 TP53 PDGFRB COL1A1
27 platelet-derived growth factor receptor-beta signaling pathway GO:0035791 9.58 PDGFRB ABL1
28 cardiac myofibril assembly GO:0055003 9.58 PDGFRB PDGFRA ACTC1
29 metanephric glomerular capillary formation GO:0072277 9.57 PDGFRB PDGFRA
30 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.56 PDGFRB PDGFRA
31 positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway GO:0035793 9.55 PDGFRB PDGFB
32 positive regulation of phospholipase C activity GO:0010863 9.5 PDGFRB PDGFRA KIT
33 platelet-derived growth factor receptor signaling pathway GO:0048008 9.26 PDGFRB PDGFRA PDGFB ABL1
34 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 8.92 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 9.91 VIM TP53 S100B S100A1 PDGFB DES
2 protein homodimerization activity GO:0042803 9.88 TP53 S100B S100A1 PDGFRA PDGFB KIT
3 protein tyrosine kinase activity GO:0004713 9.46 PDGFRB PDGFRA KIT ABL1
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.43 PDGFRB PDGFRA KIT
5 vascular endothelial growth factor binding GO:0038085 9.32 PDGFRB PDGFRA
6 platelet-derived growth factor receptor binding GO:0005161 9.13 PDGFRB PDGFRA PDGFB
7 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....