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Updated: May 27, 2025

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Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models
Published on: December 9, 2016
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Tumour-wide RNA splicing aberrations generate actionable public neoantigens
Darwin W Kwok1, Nicholas O Stevers1, Iñaki Etxeberria2,3
1Department of Neurological Surgery, University of California, San Francisco, San Francisco, CA, USA.
Nature
|February 19, 2025
Summary
Scientists discovered new cancer neoantigens from RNA splicing errors. These neoantigens can be targeted by T cell immunotherapies, potentially overcoming challenges in treating diverse cancers.
Area of Science:
- Immunology and Oncology
- Molecular Biology
- Cancer Genomics
Background:
- T cell-based immunotherapies show promise for cancer treatment by targeting cancer-specific antigens.
- Efficacy is often limited by low somatic mutation rates and significant intratumoural heterogeneity in tumors.
Purpose of the Study:
- To identify and characterize a novel class of tumour-wide public neoantigens arising from RNA splicing aberrations.
- To evaluate the potential of these neoantigens for T cell-based cancer immunotherapy.
Main Methods:
- Identification of T cell receptor clones targeting neoantigens from aberrant RNA splicing (GNAS and RPL22).
- Analysis of multi-site tumour biopsies to confirm tumour-wide expression of specific neojunctions (e.g., GNAS).
- Assessment of neoantigen-specific CD8+ T cell responses against cancer cells.
Main Results:
- Discovery of a previously uncharacterized class of tumour-wide public neoantigens derived from RNA splicing aberrations.
- Demonstration that GNAS neojunctions are expressed tumour-wide in glioma, mesothelioma, prostate, and liver cancers.
- Confirmation that these endogenously generated neoantigens can trigger cancer cell eradication by CD8+ T cells.
Conclusions:
- Aberrant RNA splicing generates tumour-wide neoantigens that are recognized by T cells.
- Dysregulated splicing factor expression contributes to recurrent neojunction upregulation in specific cancers.
- These findings provide a molecular basis for developing T cell immunotherapies to address intratumoural heterogeneity.
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