RPL22
Overview
RPL22 encodes ribosomal protein L22, a component of the 60S ribosomal subunit. In endometrial cancer, RPL22 harbors recurrent frameshift indels at a Lys15 homopolymer run in microsatellite-instable (MSI) tumors, making it one of the most frequently mutated genes in that subgroup. RPL22 loss has been implicated in altered translational regulation and potential tumor-suppressive roles.
Alterations observed in the corpus
- RPL22 Lys15 homopolymer frameshift indels occur in 36.9% of MSI endometrial tumors; nearly absent in MSS endometrioid and copy-number-high (serous-like) subgroups PMID:23636398
- Newly identified as a significantly mutated gene (MutSigCV) in hepatocellular carcinoma by exome sequencing of a European HCC cohort. PMID:25822088
Cancer types (linked)
- UCEC: RPL22 frameshift mutations are highly enriched in the MSI/CIMP endometrial cancer subgroup (36.9%); essentially absent in other molecular subtypes PMID:23636398
Co-occurrence and mutual exclusivity
- RPL22 frameshifts co-occur with MLH1 promoter hypermethylation and the MSI phenotype in endometrial cancer PMID:23636398
Therapeutic relevance
- MSI endometrial tumors with RPL22 mutations may benefit from immune checkpoint blockade given their high mutational burden and MSI status.
Open questions
- Whether RPL22 mutations are drivers or passengers in MSI endometrial cancer, and their impact on translational fidelity and immune recognition, remain to be fully characterized.
Sources
This page was processed by crosslinker on 2026-05-14. - PMID:25822088
This page was processed by crosslinker on 2026-05-14.