Details of Disease

General Information of Disease (ID: DISLKJKZ)

• Disease Name: Alveolar soft part sarcoma
• Synonyms: alveolar soft tissue sarcoma; alveolar soft PART sarcoma; alveolar soft-tissue sarcoma; pediatric alveolar soft Part sarcoma; paediatric alveolar soft Part sarcoma; childhood alveolar soft part sarcoma; alveolar soft part sarcoma; adult alveolar soft part sarcoma; adult alveolar soft Part sarcoma; alveolar soft-part sarcoma; alveolar soft Part sarcoma; adult alveolar soft-Part sarcoma; alveolar soft part sarcoma (disease); ASPS
• Disease Class: 2A60-2C35: Sarcoma
• Definition: An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DISSN8XB: Soft tissue sarcoma
  DISLKJKZ: Alveolar soft part sarcoma
• ICD Code: ICD-11: ICD-11: 2A60-2C35
• Disease Identifiers:
  MONDO ID: MONDO_0011655
  MESH ID: D018234
  UMLS CUI: C0206657
  OMIM ID: 606243
  MedGen ID: 61652
  HPO ID: HP:0012218
  Orphanet ID: 163699
  SNOMED CT ID: 404056007

Drug-Interaction Atlas (DIA) of This Disease

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

Drug Name	Drug ID	Highest Status	Drug Type	REF
AL3818	DM3WP0N	Phase 3	NA	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CD38	TTPURFN	Strong	Biomarker	[2]
CSNK1D	TTH30UI	Strong	Biomarker	[3]
MLANA	TT362RB	Strong	Biomarker	[4]

This Disease Is Related to 11 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ASPSCR1	OTXTOD10	moderate	Genetic Variation	[2]
TFE3	OTM99ZWH	moderate	Genetic Variation	[2]
BHLHE41	OTY9GJ1Y	Strong	Genetic Variation	[3]
COG8	OTDEA7YO	Strong	Altered Expression	[5]
MYOD1	OTV2S79X	Strong	Biomarker	[6]
MYOG	OTPLJKFA	Strong	Biomarker	[6]
PSMA4	OTAD2XXI	Strong	Biomarker	[7]
PSMC2	OTJ4V337	Strong	Biomarker	[7]
TBC1D25	OT11OABF	Strong	Genetic Variation	[8]
TMED6	OTLYX1ZZ	Strong	Altered Expression	[5]
TRIM63	OTUSWA74	Strong	Genetic Variation	[3]

References

• [1] Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
• [2] Lingual Alveolar Soft Part Sarcoma in a 1-Year-Old Infant: Youngest Reported Case With Characteristic ASPSCR1-TFE3 Fusion.Pediatr Dev Pathol. 2019 Jul-Aug;22(4):391-395. doi: 10.1177/1093526619830290. Epub 2019 Feb 11.
• [3] ASPS-1, a novel cell line manifesting key features of alveolar soft part sarcoma.J Pediatr Hematol Oncol. 2011 Jul;33(5):360-8. doi: 10.1097/MPH.0b013e3182002f9f.
• [4] Alveolar Soft Part Sarcoma of the Female Genital Tract: A Morphologic, Immunohistochemical, and Molecular Cytogenetic Study of 10 Cases With Emphasis on its Distinction From Morphologic Mimics.Am J Surg Pathol. 2017 May;41(5):622-632. doi: 10.1097/PAS.0000000000000796.
• [5] TMED6-COG8 is a novel molecular marker of TFE3 translocation renal cell carcinoma.Int J Clin Exp Pathol. 2015 Mar 1;8(3):2690-9. eCollection 2015.
• [6] RT-PCR suggests human skeletal muscle origin of alveolar soft-part sarcoma.Oncology. 2000 May;58(4):319-23. doi: 10.1159/000012119.
• [7] A comparative genomic approach for identifying synthetic lethal interactions in human cancer.Cancer Res. 2013 Oct 15;73(20):6128-36. doi: 10.1158/0008-5472.CAN-12-3956. Epub 2013 Aug 26.
• [8] The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25.Oncogene. 2001 Jan 4;20(1):48-57. doi: 10.1038/sj.onc.1204074.