Nature Communications (May 2018)
Outlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors
- Manuel Rodrigues,
- Lenha Mobuchon,
- Alexandre Houy,
- Alice Fiévet,
- Sophie Gardrat,
- Raymond L. Barnhill,
- Tatiana Popova,
- Vincent Servois,
- Aurore Rampanou,
- Aurore Mouton,
- Stéphane Dayot,
- Virginie Raynal,
- Michèle Galut,
- Marc Putterman,
- Sarah Tick,
- Nathalie Cassoux,
- Sergio Roman-Roman,
- François-Clément Bidard,
- Olivier Lantz,
- Pascale Mariani,
- Sophie Piperno-Neumann,
- Marc-Henri Stern
Affiliations
- Manuel Rodrigues
- Institut Curie, PSL Research University, INSERM U830, DNA Repair and Uveal Melanoma (D.R.U.M.), Equipe labellisée par la Ligue Nationale contre le Cancer
- Lenha Mobuchon
- Institut Curie, PSL Research University, INSERM U830, DNA Repair and Uveal Melanoma (D.R.U.M.), Equipe labellisée par la Ligue Nationale contre le Cancer
- Alexandre Houy
- Institut Curie, PSL Research University, INSERM U830, DNA Repair and Uveal Melanoma (D.R.U.M.), Equipe labellisée par la Ligue Nationale contre le Cancer
- Alice Fiévet
- Institut Curie, PSL Research University, INSERM U830, DNA Repair and Uveal Melanoma (D.R.U.M.), Equipe labellisée par la Ligue Nationale contre le Cancer
- Sophie Gardrat
- Department of Biopathology, Institut Curie, PSL Research University
- Raymond L. Barnhill
- Department of Biopathology, Institut Curie, PSL Research University
- Tatiana Popova
- Institut Curie, PSL Research University, INSERM U830, DNA Repair and Uveal Melanoma (D.R.U.M.), Equipe labellisée par la Ligue Nationale contre le Cancer
- Vincent Servois
- Department of Medical Imaging, Institut Curie, PSL Research University
- Aurore Rampanou
- Institut Curie, PSL Research University, Laboratory of Circulating Tumor Biomarkers, SiRIC
- Aurore Mouton
- Institut Curie, PSL Research University, INSERM CIC-BT 1428
- Stéphane Dayot
- Institut Curie, PSL Research University, INSERM U830, DNA Repair and Uveal Melanoma (D.R.U.M.), Equipe labellisée par la Ligue Nationale contre le Cancer
- Virginie Raynal
- Institut Curie, PSL Research University, INSERM U830 and Institut Curie Genomics of Excellence (ICGex) Platform
- Michèle Galut
- Institut Curie, PSL Research University, Biological Resource Center
- Marc Putterman
- Department of Pathology, Quinze-Vingts National Ophthalmology Hospital
- Sarah Tick
- Department of Ophthalmology III, Quinze-Vingts National Ophthalmology Hospital
- Nathalie Cassoux
- Faculty of Medicine, University of Paris Descartes
- Sergio Roman-Roman
- Department of Translational Research, Institut Curie, PSL Research University
- François-Clément Bidard
- Department of Medical Oncology, Institut Curie, PSL Research University
- Olivier Lantz
- Institut Curie, PSL Research University, INSERM CIC-BT 1428
- Pascale Mariani
- Department of Surgical Oncology, Institut Curie, PSL Research University
- Sophie Piperno-Neumann
- Department of Medical Oncology, Institut Curie, PSL Research University
- Marc-Henri Stern
- Institut Curie, PSL Research University, INSERM U830, DNA Repair and Uveal Melanoma (D.R.U.M.), Equipe labellisée par la Ligue Nationale contre le Cancer
- DOI
- https://doi.org/10.1038/s41467-018-04322-5
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 6
Abstract
Hypermutated tumors respond more favorably to checkpoint inhibitor-based immune therapy. Here, the authors describe a new hypermutated phenotype due to germline mutations and subsequent somatic loss of heterozygosity of MBD4, and a dramatic response to the PD-1 inhibitor pembrolizumab in a patient with a MBD4-inactivated hypermutated uveal melanoma.
