RNF130
Overview
RNF130 is an E3 ubiquitin ligase. In pilocytic astrocytoma, RNF130 was identified as a novel 5’ fusion partner of BRAF in 2 tumors, contributing to MAPK pathway activation through an alternative mechanism to the canonical KIAA1549:BRAF fusion.
Alterations observed in the corpus
- Identified as a novel 5’ fusion partner for BRAF in 2/96 pilocytic astrocytoma whole-genome sequencing cases; functional characterization not performed in this study. PMID:23817572
Cancer types (linked)
- PAST (Pilocytic Astrocytoma): RNF130:BRAF fusion is one of four novel BRAF fusion partners (alongside CLCN6, MKRN1, GNAI1) identified in non-cerebellar pilocytic astrocytoma. PMID:23817572
Co-occurrence and mutual exclusivity
- RNF130:BRAF fusions occur in tumors lacking the canonical KIAA1549:BRAF fusion; expected to be mutually exclusive with other MAPK-activating alterations (FGFR1 mutations, NTRK2 fusions). PMID:23817572
Therapeutic relevance
- Tumors with RNF130:BRAF fusions would be expected to respond to MEK inhibition; the authors caution against non-V600E-selective BRAF inhibitors in fusion-driven pilocytic astrocytoma due to risk of paradoxical MAPK activation. PMID:23817572
Open questions
- Functional dissection of the RNF130:BRAF fusion (dimerization domain contribution, ERK activation potency) was not performed by the authors. PMID:23817572
Sources
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