Outlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors

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 w...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2018
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/8fccadcc7b9941bfb571d95d895a4f6b
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:8fccadcc7b9941bfb571d95d895a4f6b
record_format	dspace
spelling	oai:doaj.org-article:8fccadcc7b9941bfb571d95d895a4f6b2021-12-02T14:40:45ZOutlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors10.1038/s41467-018-04322-52041-1723https://doaj.org/article/8fccadcc7b9941bfb571d95d895a4f6b2018-05-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-04322-5https://doaj.org/toc/2041-1723Hypermutated 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.Manuel RodriguesLenha MobuchonAlexandre HouyAlice FiévetSophie GardratRaymond L. BarnhillTatiana PopovaVincent ServoisAurore RampanouAurore MoutonStéphane DayotVirginie RaynalMichèle GalutMarc PuttermanSarah TickNathalie CassouxSergio Roman-RomanFrançois-Clément BidardOlivier LantzPascale MarianiSophie Piperno-NeumannMarc-Henri SternNature PortfolioarticleScienceQENNature Communications, Vol 9, Iss 1, Pp 1-6 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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 Outlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors
description	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.
format	article
author	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
author_facet	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
author_sort	Manuel Rodrigues
title	Outlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors
title_short	Outlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors
title_full	Outlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors
title_fullStr	Outlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors
title_full_unstemmed	Outlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors
title_sort	outlier response to anti-pd1 in uveal melanoma reveals germline mbd4 mutations in hypermutated tumors
publisher	Nature Portfolio
publishDate	2018
url	https://doaj.org/article/8fccadcc7b9941bfb571d95d895a4f6b
work_keys_str_mv	AT manuelrodrigues outlierresponsetoantipd1inuvealmelanomarevealsgermlinembd4mutationsinhypermutatedtumors AT lenhamobuchon outlierresponsetoantipd1inuvealmelanomarevealsgermlinembd4mutationsinhypermutatedtumors AT alexandrehouy outlierresponsetoantipd1inuvealmelanomarevealsgermlinembd4mutationsinhypermutatedtumors AT alicefievet outlierresponsetoantipd1inuvealmelanomarevealsgermlinembd4mutationsinhypermutatedtumors AT sophiegardrat outlierresponsetoantipd1inuvealmelanomarevealsgermlinembd4mutationsinhypermutatedtumors AT raymondlbarnhill outlierresponsetoantipd1inuvealmelanomarevealsgermlinembd4mutationsinhypermutatedtumors AT tatianapopova outlierresponsetoantipd1inuvealmelanomarevealsgermlinembd4mutationsinhypermutatedtumors AT vincentservois outlierresponsetoantipd1inuvealmelanomarevealsgermlinembd4mutationsinhypermutatedtumors AT aurorerampanou outlierresponsetoantipd1inuvealmelanomarevealsgermlinembd4mutationsinhypermutatedtumors AT auroremouton outlierresponsetoantipd1inuvealmelanomarevealsgermlinembd4mutationsinhypermutatedtumors AT stephanedayot outlierresponsetoantipd1inuvealmelanomarevealsgermlinembd4mutationsinhypermutatedtumors AT virginieraynal outlierresponsetoantipd1inuvealmelanomarevealsgermlinembd4mutationsinhypermutatedtumors AT michelegalut outlierresponsetoantipd1inuvealmelanomarevealsgermlinembd4mutationsinhypermutatedtumors AT marcputterman outlierresponsetoantipd1inuvealmelanomarevealsgermlinembd4mutationsinhypermutatedtumors AT sarahtick outlierresponsetoantipd1inuvealmelanomarevealsgermlinembd4mutationsinhypermutatedtumors AT nathaliecassoux outlierresponsetoantipd1inuvealmelanomarevealsgermlinembd4mutationsinhypermutatedtumors AT sergioromanroman outlierresponsetoantipd1inuvealmelanomarevealsgermlinembd4mutationsinhypermutatedtumors AT francoisclementbidard outlierresponsetoantipd1inuvealmelanomarevealsgermlinembd4mutationsinhypermutatedtumors AT olivierlantz outlierresponsetoantipd1inuvealmelanomarevealsgermlinembd4mutationsinhypermutatedtumors AT pascalemariani outlierresponsetoantipd1inuvealmelanomarevealsgermlinembd4mutationsinhypermutatedtumors AT sophiepipernoneumann outlierresponsetoantipd1inuvealmelanomarevealsgermlinembd4mutationsinhypermutatedtumors AT marchenristern outlierresponsetoantipd1inuvealmelanomarevealsgermlinembd4mutationsinhypermutatedtumors
_version_	1718390186170122240

Outlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors

Ejemplares similares