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alveolar soft part sarcoma (ASPS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

alveolar soft part sarcoma

MONDO:0011655

Also known as:ASPSadult alveolar soft Part sarcomaalveolar soft part sarcoma (disease)

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Overview

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.

GeneticsMultifactorial · ASPSCR1 (chr 17)

Clinical Trials16 registered · 7 recruiting

Clinical Presentation

Features include: Alveolar soft part sarcoma.

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ASPSCR1 encodes ASPSCR1 tether for SLC2A4, UBX domain containing (553 aa). Tethering protein that sequesters GLUT4-containing vesicles in the cytoplasm in the absence of insulin. Modulates the amount of GLUT4 that is available at the cell surface. Highest expression in Testis (33.4 TPM) and Pituitary (29.9 TPM).

Alveolar soft part sarcoma is associated with mutations in the ASPSCR1 gene on chromosome 17.

ASPSCR1 is classified as a druggable target (Clinically Actionable, Transcription Factor, and Transporter categories) with score 0.0.

Diagnosis

Genetic testing for ASPSCR1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for alveolar soft part sarcoma has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

16 clinical trials registered, 7 recruiting. Interventions under study include drug therapy, biologic therapy, procedural interventions, and other interventions. Pipeline includes 1 PHASE3, 6 PHASE2, 4 PHASE1. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT04332874](https://clinicaltrials.gov/study/NCT04332874)

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 5:31 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:606243

Orphanet

European rare disease database

Orphanet:163699

GARD

Genetic and Rare Diseases Info Center

GARD:5654

Questions for Your Care Team

→Are any of the 16 active clinical trials a good fit for my situation?
→Should I pursue genetic testing for ASPSCR1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Research Type	Count	% of Total
Patient case studies	29	30%
Research summaries	22	23%
Testing and diagnosis research	11	11%
Clinical study results	11	11%
Laboratory research	9	9%
Disease patterns and progression	7	7%
Other research	6	6%
New treatment approaches	1	1%

Kisho

alveolar soft part sarcoma

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Sapanisertib Market Size Analysis and Sales Forecast 2020-2034: Commercial Outlook Hinges on Late-Stage Success

Multidisciplinary Practice Patterns and Barriers to Preoperative Radiotherapy for Soft Tissue Sarcoma: A National Multicenter Survey.

Biomarkers of prognosis and pazopanib response in soft tissue sarcoma: An exploratory analysis.

Translating Data Into Clinical Tools: An Integrative Strategy for Precision Biomarker Identification in Soft Tissue Sarcoma Diagnosis and Prognosis.

alveolar soft part sarcoma

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Sapanisertib Market Size Analysis and Sales Forecast 2020-2034: Commercial Outlook Hinges on Late-Stage Success

Multidisciplinary Practice Patterns and Barriers to Preoperative Radiotherapy for Soft Tissue Sarcoma: A National Multicenter Survey.

Biomarkers of prognosis and pazopanib response in soft tissue sarcoma: An exploratory analysis.

Translating Data Into Clinical Tools: An Integrative Strategy for Precision Biomarker Identification in Soft Tissue Sarcoma Diagnosis and Prognosis.