DFSP
MCID: DRM014
MIFTS: 59

Dermatofibrosarcoma Protuberans (DFSP) malady

Skin, Cancer, Genetic categories

Summaries for Dermatofibrosarcoma Protuberans

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Dermatofibrosarcoma protuberans is an uncommon tumor that arises in the skin. the tumor is firm and often flesh-colored although it can be reddish, bluish, or purplish. the tumor is often found on the chest or shoulders, but it can be found on other parts of the body.  dermatofibrosarcoma protuberans may cause no symptoms, and the initial size of the tumor tends to be around 1 to 5 centimeters. this tumor has a low potential to spread to other tissues (metastasize). treatment often involves surgery to remove the tumor, such as by mohs’ micrographic surgery.  last updated: 11/18/2010

MalaCards: Dermatofibrosarcoma Protuberans, also known as DFSP, is related to dermatofibrosarcoma and fibrous histiocytoma, and has symptoms including erythema/erythematous lesions/erythroderma/polymorphous erythema, thick skin/pachydermia/orange skin and subcutaneous nodules/lipomas/tumefaction/swelling. An important gene associated with Dermatofibrosarcoma Protuberans is PDGFB (platelet-derived growth factor beta polypeptide), and among its related pathways are Osteoblast Signaling and Striated Muscle Contraction. The compounds estrogen and procollagen have been mentioned in the context of this disorder. Affiliated tissues include lymph node, lung and breast, and related mouse phenotypes are muscle and integument.

Genetics Home Reference:21 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.

Wikipedia:64 Dermatofibrosarcoma protuberans (DFSP) is a very rare tumor. It is a rare neoplasm of the dermis layer... more...

Description from OMIM:47 607907

Aliases & Classifications for Dermatofibrosarcoma Protuberans

Sources:
21Genetics Home Reference, 61UMLS, 43NIH Rare Diseases, 47OMIM, 45Novoseek, 49Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer, Genetic
Anatomical: Skin


Characteristics (Orphanet epidemiological data):

49
dermatofibrosarcoma protuberans:
Inheritance: Sporadic; Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Adult


Aliases & Descriptions:

dermatofibrosarcoma protuberans 43 21 47 45 49 61
dfsp 43 21 49
dermatofibrosarcoma 21 61
metastatic dermatofibrosarcoma protuberans 43
familial dermatofibrosarcoma protuberans 43
giant cell fibroblastoma 43
darier-hoffmann tumor 21
darier-ferrand tumor 21


External Ids:

SNOMED-CT via Orphanet58 238863004, 276799004, 128742004
UMLS via Orphanet62 C0392784
OMIM47 607907
MESH via Orphanet36 C538219

Related Diseases for Dermatofibrosarcoma Protuberans

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 186)
idRelated DiseaseScoreTop Affiliating Genes
1dermatofibrosarcoma32.3COL1A1, PDGFB
2fibrous histiocytoma30.9CD34
3cutaneous fibrous histiocytoma30.3MMP11, CD34
4choroid plexus papilloma30.3MUC1, S100B
5kaposi's sarcoma30.3PDGFB, F13A1, CD34
6wilms tumor30.3VIM, DES, ACTC1
7spindle cell sarcoma30.3VIM, S100B, DES, MUC1, ACTC1
8gastrointestinal stromal tumor30.3VIM, S100B, S100A1, PDGFRB, NES, DES
9adenocarcinoma30.3VIM, PDGFB, PDGFRB, NES, F13A1, MUC1
10basal cell carcinoma29.8F13A1, CD34, MMP11, ACTC1
11bednar's tumor10.6
12burn scar10.4
13merkel cell carcinoma10.4
14spindle cell lipoma10.4
15skin sarcoma10.4
16myxofibrosarcoma10.4
17gynecomastia10.2
18encephalocele10.2
19breast fibrosarcoma10.2
20cushing's syndrome10.2
21adult fibrosarcoma10.2
22skin glomus tumor10.2
23acquired immunodeficiency syndrome10.2
24mycosis fungoides10.2
25adenosine deaminase deficiency10.2
26n syndrome10.2
27bone giant cell tumor10.2
28smallpox10.2
29shwachman-diamond syndrome10.2
30ring chromosome 110.2
31ring chromosome 1710.2
32ring chromosome 810.2
33halo nevi10.2
34soft tissue sarcoma10.2
35superior vena cava syndrome10.2
36solitary fibrous tumor10.2
37small bowel adenocarcinoma10.2
38hepatitis10.0PDGFB
39glomerulonephritis10.0PDGFB
40gliosarcoma10.0PDGFRB
41leydig cell tumor10.0PDGFRB
42fasciitis10.0ACTC1
43lymphangioleiomyomatosis10.0DES
44uterine carcinosarcoma10.0KIT
45infantile myofibromatosis10.0DES
46dermatitis10.0F13A1
47malignant fibroxanthoma10.0CD34
48neurilemmoma10.0CD34
49renal oncocytoma10.0S100A1
50stomach cancer10.0CD34

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



Diseases related to dermatofibrosarcoma protuberans

Clinical Features for Dermatofibrosarcoma Protuberans

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

607907

Symptoms:

49 (show all 6)
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • thick skin/pachydermia/orange skin
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • soft tissue sarcoma/cancer/tumor/liposarcoma/myosarcoma
  • chronic skin infection/ulcerations/ulcers/cancrum

Drugs & Therapeutics for Dermatofibrosarcoma Protuberans

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Dermatofibrosarcoma Protuberans

Drug clinical trials:

Search ClinicalTrials for Dermatofibrosarcoma Protuberans

Search NIH Clinical Center for Dermatofibrosarcoma Protuberans

Search CenterWatch for Dermatofibrosarcoma Protuberans

Genetic Tests for Dermatofibrosarcoma Protuberans

Anatomical Context for Dermatofibrosarcoma Protuberans

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Dermatofibrosarcoma Protuberans:

33
Lymph node, Lung, Breast, Skin, T cells, B cells, Endothelial, Fetal lung

Animal Models for Dermatofibrosarcoma Protuberans or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Dermatofibrosarcoma Protuberans

Sources:
51PubMed
See all sources

Articles related to Dermatofibrosarcoma Protuberans:

(show top 50)    (show all 515)
idTitleAuthorsYear
1
Dermatofibrosarcoma protuberans in a 10-year-old child. (24421865)
2013
2
Painful late recurrence of dermatofibrosarcoma protuberans of breast in a centurian female. (24298499)
2013
3
CD99 Expression in Dermatofibrosarcoma Protuberans and Dermatofibroma. (24247571)
2013
4
Reducing surgical margins in dermatofibrosarcoma protuberans using the pathological analysis technique 'vertical modified technique': a 5-year experience. (23419681)
2013
5
PDGFB rearrangement in dermatofibrosarcoma protuberans: correlation with clinicopathologic characteristics and clinical implications. (23347652)
2013
6
Imaging Findings of Head and Neck Dermatofibrosarcoma Protuberans. (23907249)
2013
7
Dermatofibrosarcoma protuberans in childhood treated with slow Mohs micrographic surgery. (23432099)
2013
8
Complete resection of recurrent and initially unresectable dermatofibrosarcoma protuberans downsized by Imatinib. (23496933)
2013
9
A rapid and efficient newly established method to detect COL1A1-PDGFB gene fusion in dermatofibrosarcoma protuberans. (22842571)
2012
10
Giant dermatofibrosarcoma protuberans: a case report of a surgical reconstruction and patient rehabilitation challenge. (22154399)
2012
11
Dermatofibrosarcoma protuberans. (22214941)
2012
12
Congenital dermatofibrosarcoma protuberans in a newborn infant with a massive back tumor: favorable effects of oral imatinib on the control of residual tumor growth. (21941133)
2011
13
Correlation between preoperative magnetic resonance imaging and surgical margins with modified Mohs for dermatofibrosarcoma protuberans. (21679274)
2011
14
Plaque-like CD34-positive dermal fibroma ("medallion-like dermal dendrocyte hamartoma"): clinicopathologic, immunohistochemical, and molecular analysis of 5 cases emphasizing its distinction from superficial, plaque-like dermatofibrosarcoma protuberans. (20061935)
2010
15
Recurrent dermatofibrosarcoma protuberans over anterior abdominal wall. (21430830)
2010
16
Halo nevi related to treatment with imatinib in a dermatofibrosarcoma protuberans patient. (19694892)
2010
17
Micrographic surgery (Tubingen torte technique) for the treatment of an invasive dermatofibrosarcoma protuberans with muscular involvement. (20467403)
2010
18
PDGFB quantification is a useful tool in the diagnosis of dermatofibrosarcoma protuberans: a study of 10 cases. (19663837)
2010
19
Dermatofibrosarcoma protuberans: recurrence is related to the adequacy of surgical margins. (19646839)
2010
20
Dermatofibrosarcoma protuberans: A case report of a rare, bulky tumor that was managed with surgical therapy. (20616952)
2009
21
Dermatofibrosarcoma protuberans of the breast: mammographic, ultrasound, MRI and MRS features. (19252921)
2009
22
Dermatofibrosarcoma protuberans in childhood: two case reports and review of the literature. (18728975)
2008
23
Latissimus dorsi myocutaneous flap in the treatment of a dermatofibrosarcoma protuberans. (18452526)
2008
24
Dermatofibrosarcoma protuberans in childhood and adolescence: report of eight patients. (18577035)
2008
25
Multiple recurrent dermatofibrosarcoma protuberans of the hand. (18571614)
2008
26
A study of CD117 expression in dermatofibrosarcoma protuberans and cellular dermatofibroma. (17944726)
2007
27
Dermatofibrosarcoma protuberans. (17509257)
2007
28
Excellent survival of pediatric dermatofibrosarcoma protuberans in Taiwanese. (17109179)
2007
29
Dermatofibrosarcoma protuberans: Rare cause of head and neck swelling. (23120458)
2007
30
Treatment of recurrent dermatofibrosarcoma protuberans with imatinib mesylate, followed by Mohs micrographic surgery. (17550456)
2007
31
Imatinib in the treatment of dermatofibrosarcoma protuberans. (19707305)
2007
32
Myoid differentiation and EMA expression in fibrosarcomatous dermatofibrosarcoma protuberans. (16850098)
2006
33
Molecular and clinical analysis of locally advanced dermatofibrosarcoma protuberans treated with imatinib: Imatinib Target Exploration Consortium Study B2225. (15681532)
2005
34
Aspiration cytology of fibrosarcomatous variant of dermatofibrosarcoma protuberans with osteoclastlike giant cells in the chest wall: a case report. (16450905)
2005
35
Nasolacrimal duct obstruction secondary to dermatofibrosarcoma protuberans. (15234144)
2004
36
An unusual pigmented skin tumour. Bednar Tumour, dorsum of left foot (pigmented dermatofibrosarcoma protuberans). (15370137)
2004
37
Dermatofibrosarcoma protuberans: a clinicopathological analysis of 10 cases in Asians. (14961905)
2004
38
Low recurrence rate after surgery for dermatofibrosarcoma protuberans: a multidisciplinary approach from a single institution. (14983497)
2004
39
Metastatic Bednar tumor (pigmented dermatofibrosarcoma protuberans) with fibrosarcomatous change: a case report. (16228691)
2004
40
Dermatofibrosarcoma protuberans of the brow and eyelid. (15266155)
2004
41
Dermatofibrosarcoma protuberans of the vulva and groin: detection of COL1A1-PDGFB fusion transcripts by RT-PCR. (12641779)
2003
42
Nodular sclerotic change in dermatofibrosarcoma protuberans: a potential diagnostic problem. (12588394)
2003
43
Dermatofibrosarcoma protuberans: reappraisal of wide local excision and impact of inadequate initial treatment. (14597453)
2003
44
Recurrent dermatofibrosarcoma protuberans sixteen years after radical excition. A case report. (14666631)
2003
45
Dermatofibrosarcoma protuberans: experience with 14 cases. (11763383)
2001
46
Guess what. Dermatofibrosarcoma protuberans presenting as an atrophic red plaque. (11275815)
2001
47
Myoid cells in the fibrosarcomatous variant of dermatofibrosarcoma protuberans. (10733324)
2000
48
A case of dermatofibrosarcoma protuberans of the vulva with a COL1A1/PDGFB fusion identical to a case of giant cell fibroblastoma. (10963386)
2000
49
A Case of Dermatofibrosarcoma Protuberans in the Skin over the Breast of a Young Woman. (11091683)
1998
50
Expression of the human hematopoietic progenitor cell antigen CD34 in dermatofibrosarcoma protuberans, other spindle cell tumors, and vascular lesions. (7506274)
1994

Genetic Variations for Dermatofibrosarcoma Protuberans

Expression for genes affiliated with Dermatofibrosarcoma Protuberans

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Dermatofibrosarcoma Protuberans

Search GEO for disease gene expression data for Dermatofibrosarcoma Protuberans.

Pathways for genes affiliated with Dermatofibrosarcoma Protuberans

Sources:
38NCBI BioSystems Database, 54Reactome, 12EMD Millipore, 52QIAGEN
See all sources

Compounds for genes affiliated with Dermatofibrosarcoma Protuberans

Sources:
45Novoseek, 24HMDB, 50PharmGKB, 29IUPHAR, 11DrugBank, 2BitterDB, 60Tocris Bioscience
See all sources

Compounds related to Dermatofibrosarcoma Protuberans according to GeneCards/GeneDecks:

(show top 50)    (show all 74)
idCompoundScoreTop Affiliating Genes
1estrogen4510.8F13A1
2procollagen4510.6F13A1, P4HTM
3glycogen45 2411.6ACTC1, KIT
4glucose4510.5ACTC1, MUC1, PDGFRB
5creatinine4510.4ACTC1, APOD
6reticulin4510.4VIM, DES, MUC1, ACTC1
7eosin4510.4VIM, S100B, MUC1
8orcein4510.4VIM, S100B, DES, ACTC1
92-methoxyethanol4510.4S100A1, ACTC1, VIM
10toluidine4510.3VIM, S100A1, KIT, DES
11fluorochrome4510.3VIM, KIT, CD34
12aspartate4510.3CTSK, COL1A1, EIF2AK3
13ganglioside4510.2DES, PDGFRB, VIM, NES
14acetylcholine45 50 29 11 2414.2NES, S100A1
15serine4510.2DES, S100B, PDGFB, CTSK, TNFAIP6
16s 1004510.2VIM, ACTC1, MUC1, DES, F13A1, S100B
17silver4510.2F13A1, PDGFB, S100A1, DES, CD34
18chloramphenicol45 2 1112.2S100B, VIM, PDGFB, MUC1, COL1A1
19biotin45 11 2412.1S100A1, DES, MUC1, ACTC1, VIM
20bromodeoxyuridine4510.1PDGFRB, DES, NES, PDGFB, S100B, VIM
21agar4510.1PDGFB, VIM, MUC1, PDGFRB, CD34
22ribonucleic acid4510.1ACTC1, KIT, COL1A1, MUC1, PDGFRB, PDGFB
23dexamethasone45 50 29 1113.1CD163, COL1A1, PDGFB, S100B, TNFAIP6
24mucicarmine4510.1S100A1, VIM, S100B, DES, MUC1, ACTC1
25formaldehyde45 2411.1MUC1, KIT, DES, S100B, VIM, ACTC1
26matrigel4510.1NES, PDGFRB, VIM, ACTC1, MUC1
27imatinib45 50 1112.1COL1A1, S100B, DES, PDGFRB, ACTC1, KIT
28actomyosin4510.1S100A1, VIM, ACTC1
29b 7234510.0VIM, ACTC1, MUC1, S100B, S100A1, F13A1
30methionine4510.0PDGFRB, S100B, VIM, DES, KIT
31thymidine45 2410.9S100B, COL1A1, CD34, KIT, MUC1, DES
3212-o-tetradecanoylphorbol 13-acetate459.9MMP11, DES, CD34, MUC1, VIM
33hyaluronic acid45 2410.9DES, TNFAIP6, VIM, MUC1
34iron45 2410.9F13A1, VIM, S100B, S100A1, ACTC1, DES
35proline459.9DES, PDGFRB, MMP11, P4HTM, CTSK, S100B
36dihydrotestosterone45 29 11 2412.9MUC1, DES, APOD, VIM
37testosterone45 60 11 2412.8MUC1, ACTC1, DES, KIT, S100B, PDGFRB
38oligonucleotide459.8PDGFB, VIM, COL1A1, MMP11, KIT, F13A1
39oxygen45 2410.7P4HTM, EIF2AK3, MMP11, DES, NES, CTSK
40hematoxylin459.7DES, MUC1, CD34, KIT, ACTC1, F13A1
41nitric oxide45 11 2411.7S100B, NES, MUC1, S100A1, EIF2AK3, KIT
42agarose459.7APOD, MUC1, S100B, KIT
43lipid459.6PDGFB, MUC1, CD163, NES, APOD, PDGFRB
44cysteine459.5VIM, DES, MUC1, MMP11, COL1A1, S100B
45vegf459.3DES, PDGFRB, COL1A1, VIM, S100B, PDGFB
46tyrosine459.1S100A1, ACTC1, EIF2AK3, S100B, PDGFB, PDGFRB
47progesterone45 60 29 11 2413.1PDGFRB, APOD, NES, F13A1, DES, MUC1
48retinoic acid45 2410.0COL1A1, VIM, S100B, S100A1, PDGFRB, APOD
49calcium45 50 11 2411.9EIF2AK3, S100A1, COL1A1, KIT, ACTC1, CD163
50paraffin458.9S100A1, ACTC1, KIT, VIM, S100B, PDGFB

GO Terms for genes affiliated with Dermatofibrosarcoma Protuberans

Sources:
16Gene Ontology
See all sources

Cellular components related to Dermatofibrosarcoma Protuberans according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:00588210.1DES, NES, VIM
2extracellular spaceGO:0056159.4COL1A1, S100B, PDGFB, APOD, CTSK, KIT
3extracellular regionGO:0055769.2MMP11, COL1A1, S100B, PDGFB, APOD, CTSK

Biological processes related to Dermatofibrosarcoma Protuberans according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1metanephric glomerular mesangial cell proliferation involved in metanephros developmentGO:07226210.6PDGFRB, PDGFB
2positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathwayGO:03579310.6PDGFB, PDGFRB
3paracrine signalingGO:03800110.5PDGFB, CD34
4intramembranous ossificationGO:00195710.5COL1A1, CTSK
5cell chemotaxisGO:06032610.5PDGFB, PDGFRB, KIT
6positive regulation of phosphatidylinositol 3-kinase activityGO:04355210.5PDGFRB, KIT, PDGFB
7positive regulation of DNA biosynthetic processGO:200057310.5PDGFRB, PDGFB
8positive regulation of phospholipase C activityGO:01086310.5PDGFRB, KIT
9positive regulation of phosphatidylinositol 3-kinase cascadeGO:01406810.4PDGFB, KIT, PDGFRB
10peptidyl-tyrosine phosphorylationGO:01810810.4PDGFB, PDGFRB, KIT
11positive regulation of calcium ion importGO:09028010.4PDGFB, PDGFRB
12stem cell proliferationGO:07208910.4NES, CD34
13muscle filament slidingGO:03004910.4VIM, DES, ACTC1
14positive regulation of chemotaxisGO:05092110.4PDGFB, PDGFRB
15hemopoiesisGO:03009710.3PDGFB, CD34, KIT
16positive regulation of smooth muscle cell migrationGO:01491110.3PDGFRB, PDGFB
17collagen catabolic processGO:03057410.2CTSK, MMP11, COL1A1
18cardiac myofibril assemblyGO:05500310.1ACTC1, PDGFRB
19extracellular matrix disassemblyGO:02261710.1CTSK, MMP11, COL1A1
20innate immune responseGO:0450879.9S100B, PDGFRB, CTSK, KIT, PDGFB
21extracellular matrix organizationGO:0301989.7MMP11, PDGFB, COL1A1, CTSK

Molecular functions related to Dermatofibrosarcoma Protuberans according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor receptor bindingGO:00516110.3PDGFB, PDGFRB
2platelet-derived growth factor bindingGO:04840710.2COL1A1, PDGFB, PDGFRB
3S100 protein bindingGO:0445489.9S100A1, S100B
4identical protein bindingGO:0428029.6COL1A1, VIM, S100B, S100A1, DES, EIF2AK3

Products for genes affiliated with Dermatofibrosarcoma Protuberans

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Sources for Dermatofibrosarcoma Protuberans

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet