期刊
NATURE COMMUNICATIONS
卷 9, 期 -, 页码 -出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/s41467-018-04322-5
关键词
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资金
- European Commission [667787]
- INCa/ITMO/AVIESAN PhD fellowship program Formation a la recherche translationelle
- Canceropole Ile de-France
- INCa [PRT-K14 UMCURE]
- Institut National de la Sante et de la Recherche Medicale (INSERM)
- Ligue Nationale Contre le Cancer (Labellisation)
- Institut Curie
- EQUIPEX investissements d'avenir program
- Agence Nationale de le Recherche [ANR10-INBS-09-08]
Metastatic uveal melanoma is a deadly disease with no proven standard of care. Here we present a metastatic uveal melanoma patient with an exceptional high sensitivity to a PD-1 inhibitor associated with outlier CpG>TpG mutation burden, MBD4 germline deleterious mutation, and somatic MBD4 inactivation in the tumor. We identify additional tumors in The Cancer Genome Atlas (TCGA) cohorts with similar hypermutator profiles in patients carrying germline deleterious MBD4 mutations and somatic loss of heterozygosity. This MBD4-related hypermutator phenotype may explain unexpected responses to immune checkpoint inhibitors.
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