SFPQ
Overview
SFPQ (Splicing Factor Proline and Glutamine Rich) is an RNA-binding protein involved in transcriptional regulation and RNA processing. In clear cell renal cell carcinoma (ccRCC), SFPQ is a recurrent fusion partner of TFE3, forming in-frame fusions that are exclusively identified in VHL wildtype tumors and are associated with X(p11) translocations.
Alterations observed in the corpus
- Recurrent in-frame fusion with TFE3 (SFPQ–TFE3); identified in 5 samples; all VHL wildtype; often accompanied by X(p11) translocation confirmed by FISH. PMID:23792563
Cancer types (linked)
- CCRCC: SFPQ–TFE3 fusions define a VHL-wildtype subset of ccRCC, representing a molecularly distinct subgroup. PMID:23792563
Co-occurrence and mutual exclusivity
- SFPQ–TFE3 fusions occur exclusively in VHL wildtype ccRCC tumors, suggesting mutual exclusivity with VHL mutation. PMID:23792563
Therapeutic relevance
- No specific therapeutic implication reported in this study; the SFPQ–TFE3 fusion subset may represent a distinct molecular entity warranting separate clinical consideration. PMID:23792563
Open questions
- Functional consequences of the SFPQ–TFE3 fusion in driving ccRCC in the VHL-wildtype background are not characterized in this study. PMID:23792563
Sources
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