ASPSCR1
Overview
ASPSCR1 (ALVEOLAR SOFT PART SARCOMA CHROMOSOME REGION, CANDIDATE 1) is best known as a fusion partner with TFE3 in translocation renal cell carcinoma (tRCC) and alveolar soft part sarcoma. The ASPSCR1-TFE3 fusion is among the most recurrent TFE3-fusion events in tRCC.
Alterations observed in the corpus
- ASPSCR1-TFE3 fusion recovered as expected in translocation RCC cases in the non-clear-cell RCC genomic cohort (nccrcc_genentech_2014) PMID:25401301
- ASPSCR1-TFE3 fusion identified in a pediatric pan-cancer sequencing cohort — diagnostic of alveolar soft part sarcoma (ASPS) PMID:28007021
Cancer types (linked)
- TRCC: ASPSCR1-TFE3 is a canonical fusion in translocation renal cell carcinoma PMID:25401301
Co-occurrence and mutual exclusivity
- Co-occurs with PRCC-TFE3 as one of the two predominant TFE3 fusion classes in tRCC; distinct from the ACTG1-MITF and CLTC-TFEB fusions also observed in this cohort PMID:25401301
Therapeutic relevance
- TFE3-fusion-positive tRCCs (including ASPSCR1-TFE3) fall within the MiTF-high tumor subgroup, which may be candidates for MET inhibitor and BIRC7-directed strategies PMID:25401301
Open questions
- Relative frequency and clinical prognosis of ASPSCR1-TFE3 versus other TFE3 fusions in tRCC requires larger prospective cohorts PMID:25401301
Sources
This page was processed by entity-page-writer on 2026-05-11. - PMID:28007021
This page was processed by entity-page-writer on 2026-05-15.