Details of Disease

Disease Name

Dermatofibrosarcoma protuberans

giant cell fibroblastoma; familial dermatofibrosarcoma protuberans (subtype); metastatic dermatofibrosarcoma protuberans (subtype); dermatofibrosarcoma; dermatofibrosarcoma protuberans; DFSP

Definition

MONDO_0023603|MONDO_0000653|MONDO_0005164

Disease Hierarchy

DIS8I9FS: Hereditary disorder of connective tissue

DIS4OCQM: Dermatofibrosarcoma protuberans

Disease Identifiers

MONDO ID

MONDO_0011934

MESH ID

D018223

UMLS CUI

C3693482

OMIM ID

607907

MedGen ID

811326

Orphanet ID

31112

SNOMED CT ID

128742004

General Information of Disease (ID: DIS4OCQM)

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Imatinib	DM7RJXL	Approved	Small molecular drug	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PDGFD	TTSN0GA	Disputed	Biomarker	[2]
COL6A3	TT5WCAH	Strong	Genetic Variation	[2]
F13A1	TTXI2RA	Strong	Altered Expression	[3]
PDGFRB	TTI7421	Strong	Biomarker	[4]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GPR4	OTIBF32I	Strong	Altered Expression	[5]
GPR65	OTCF5O4G	Strong	Altered Expression	[5]
MAP3K7CL	OT9J7RLC	Strong	Biomarker	[6]
OMD	OTFRELBB	Definitive	Altered Expression	[7]
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References

1	Imatinib FDA Label
2	Dermatofibrosarcoma protuberans with a novel COL6A3-PDGFD fusion gene and apparent predilection for breast.Genes Chromosomes Cancer. 2018 Sep;57(9):437-445. doi: 10.1002/gcc.22663. Epub 2018 Aug 14.
3	Phosphohistone-H3 and Ki67: Useful Markers in Differentiating Dermatofibroma From Dermatofibrosarcoma Protuberans and Atypical Fibrohistiocytic Lesions.Am J Dermatopathol. 2017 Jul;39(7):504-507. doi: 10.1097/DAD.0000000000000690.
4	Alteration of PDGFR-Akt-mTOR pathway signaling in fibrosarcomatous transformation of dermatofibrosarcoma protuberans.Hum Pathol. 2017 Sep;67:60-68. doi: 10.1016/j.humpath.2017.07.001. Epub 2017 Jul 13.
5	Expression of proton-sensing G-protein-coupled receptors in selected skin tumors.Exp Dermatol. 2019 Jan;28(1):66-71. doi: 10.1111/exd.13809. Epub 2018 Dec 13.
6	A novel MAP3K7CL-ERG fusion in a molecularly confirmed case of dermatofibrosarcoma protuberans with fibrosarcomatous transformation.J Cutan Pathol. 2019 Jul;46(7):532-537. doi: 10.1111/cup.13469. Epub 2019 May 3.
7	Aneurysmal bone cyst variant translocations upregulate USP6 transcription by promoter swapping with the ZNF9, COL1A1, TRAP150, and OMD genes.Oncogene. 2005 May 12;24(21):3419-26. doi: 10.1038/sj.onc.1208506.