CNR1
Overview
CNR1 (Cannabinoid Receptor 1) encodes the main G protein-coupled receptor for endocannabinoids and is expressed in the central nervous system and peripheral tissues. In rhabdomyosarcoma (RMS), CNR1 has been identified as a known downstream target of the PAX3-FOXO1 oncogenic fusion and is recurrently mutated.
Alterations observed in the corpus
- Altered in PAX-fusion-negative rhabdomyosarcoma (RMS); classified as a known downstream target of PAX3-FOXO1 (alongside MYOD1 and MET) in a gene-set enrichment analysis (P=1.54x10^-3); mutation frequency not separately specified PMID:24436047
Cancer types (linked)
- Rhabdomyosarcoma (RMS): altered as part of the PAX3-FOXO1 downstream transcriptional program; predominantly in PAX-fusion-negative tumors PMID:24436047
Co-occurrence and mutual exclusivity
- Co-altered with MYOD1 and MET as downstream targets of the PAX3-FOXO1 fusion program in RMS; observed in PAX-fusion-negative (PFN) tumors where PAX-FOXO1 is absent PMID:24436047
Therapeutic relevance
- No targeted therapy data for CNR1 in RMS. CNR1 is a G-protein-coupled receptor and could in principle be targeted by cannabinoid receptor modulators, but no clinical evidence exists in RMS PMID:24436047
Open questions
- The functional role of CNR1 mutations in PAX-fusion-negative RMS and whether they activate or disrupt CNR1 signaling is not characterized; the significance of CNR1 as a PAX3-FOXO1 target in fusion-negative tumors requires clarification PMID:24436047
Sources
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