CSDE1
Overview
CSDE1 (Cold Shock Domain Containing E1, also known as UNR) is an RNA-binding protein involved in mRNA stability and translational regulation. CSDE1 was identified as a newly described driver gene in pheochromocytoma and paraganglioma (PCC/PGL) by TCGA, where truncating mutations implicate it as a tumor suppressor. The CSDE1-mutant tumors cluster in the Wnt-altered molecular subtype and are associated with poor clinical outcome.
Alterations observed in the corpus
- CSDE1 newly identified as a somatic driver in PCC/PGL; 4 tumors with truncating frameshift or splice-site mutations clustered in the proximal region of the protein; integrated deletion, underexpression, and correlation with Csde1-KO embryonic stem cell signature supports tumor-suppressor/loss-of-function role PMID:28162975
Cancer types (linked)
- PHC / PGNG: CSDE1 mutations define part of the Wnt-altered PCC/PGL subtype, associated with MAML3 fusions, DNA hypomethylation, and markers of poor aggressive-disease-free survival; 173-patient TCGA cohort PMID:28162975
Co-occurrence and mutual exclusivity
- CSDE1 mutations co-occur with MAML3 fusion genes in the Wnt-altered PCC/PGL subtype PMID:28162975
Therapeutic relevance
- No direct therapeutic targeting yet established; Wnt-altered subtype (which includes CSDE1-mutant tumors) has been associated with poor outcome and metastatic disease, raising interest in Wnt/beta-catenin pathway inhibitors PMID:28162975
Open questions
- CSDE1 had not previously been described as a driver in any cancer type; functional validation in PCC/PGL models is needed PMID:28162975
- Whether CSDE1 mutations contribute to tumorigenic properties independently of MAML3 co-occurrence remains unclear PMID:28162975
Sources
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