Details of Disease | DrugMAP

General Information of Disease (ID: DIS8V0NT)

Disease Name	Neoplasm with perivascular epithelioid cell differentiation
Synonyms	perivascular epithelioid cell tumour; tumour with perivascular epithelioid cell differentiation; perivascular epithelioid cell tumor; PEComa; neoplasm with perivascular epithelioid cell differentiation; tumor with perivascular epithelioid cell differentiation
Definition	A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis.\|MeSH defintion: A family of mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells. These cells do not have a normal anatomic homolog. (From Fletcher CDM, et. al., World Health Organization Classification of Tumors: Pathology and Genetics of Tumors of Soft Tissue and Bone, 2002).
Disease Hierarchy	DISP2OHE: Soft tissue neoplasm DIS8V0NT: Neoplasm with perivascular epithelioid cell differentiation
Disease Identifiers	MONDO ID MONDO_0006359 MESH ID D054973 UMLS CUI C1300127 MedGen ID 266246 Orphanet ID 595133 SNOMED CT ID 388601000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
APH1A	OT97F1TU	Strong	Biomarker	[1]
MITF	OT6XJCZH	Strong	Biomarker	[2]
NONO	OTN36Q6U	Strong	Genetic Variation	[3]
RBMX	OTFZN66E	Strong	Biomarker	[4]
SFPQ	OTLCIAPJ	Strong	Biomarker	[1]
TSC1	OTFF4YZ7	Strong	Genetic Variation	[5]
TSC2	OT47LWI9	Strong	Genetic Variation	[5]
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⏷ Show the Full List of 7 DOT(s)

References

1	Perivascular epithelioid cell tumor with SFPQ/PSF-TFE3 gene fusion in a patient with advanced neuroblastoma.Am J Surg Pathol. 2009 Sep;33(9):1416-20. doi: 10.1097/PAS.0b013e3181a9cd6c.
2	Cathepsin K expression in clear cell "sugar" tumor (PEComa) of the lung.Virchows Arch. 2018 Jul;473(1):55-59. doi: 10.1007/s00428-018-2325-1. Epub 2018 Mar 7.
3	Melanotic PEComa of the Sinonasal Mucosa With NONO-TFE3 Fusion: An Elusive Mimic of Sinonasal Melanoma.Am J Surg Pathol. 2017 May;41(5):717-722. doi: 10.1097/PAS.0000000000000778.
4	A novel RBMX-TFE3 gene fusion in a highly aggressive pediatric renal perivascular epithelioid cell tumor.Genes Chromosomes Cancer. 2020 Jan;59(1):58-63. doi: 10.1002/gcc.22801. Epub 2019 Sep 2.
5	Benign clear cell "sugar" tumor of the lung in a patient with Birt-Hogg-Dub syndrome: a case report.BMC Med Genet. 2016 Nov 21;17(1):85. doi: 10.1186/s12881-016-0350-y.