ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma

Spiradenoma and cylindroma are skin adnexal tumors that can behave aggressively and undergo malignant transformation. Here, the authors genetically assess a cohort of these adnexal tumours, highlighting recurrent ALPK1 mutations and revealing the genomic landscape of these rare tumours.

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Autores principales: Mamunur Rashid, Michiel van der Horst, Thomas Mentzel, Francesca Butera, Ingrid Ferreira, Alena Pance, Arno Rütten, Bostjan Luzar, Zlatko Marusic, Nicolas de Saint Aubain, Jennifer S. Ko, Steven D. Billings, Sofia Chen, Marie Abi Daoud, James Hewinson, Sandra Louzada, Paul W. Harms, Guia Cerretelli, Carla Daniela Robles-Espinoza, Rajiv M. Patel, Louise van der Weyden, Chris Bakal, Jason L. Hornick, Mark J. Arends, Thomas Brenn, David J. Adams
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Lenguaje:EN
Publicado: Nature Portfolio 2019
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Acceso en línea:https://doaj.org/article/8cf5f1bae6714e01b43eb450dac4bb01
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spelling oai:doaj.org-article:8cf5f1bae6714e01b43eb450dac4bb012021-12-02T16:58:27ZALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma10.1038/s41467-019-09979-02041-1723https://doaj.org/article/8cf5f1bae6714e01b43eb450dac4bb012019-05-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-09979-0https://doaj.org/toc/2041-1723Spiradenoma and cylindroma are skin adnexal tumors that can behave aggressively and undergo malignant transformation. Here, the authors genetically assess a cohort of these adnexal tumours, highlighting recurrent ALPK1 mutations and revealing the genomic landscape of these rare tumours.Mamunur RashidMichiel van der HorstThomas MentzelFrancesca ButeraIngrid FerreiraAlena PanceArno RüttenBostjan LuzarZlatko MarusicNicolas de Saint AubainJennifer S. KoSteven D. BillingsSofia ChenMarie Abi DaoudJames HewinsonSandra LouzadaPaul W. HarmsGuia CerretelliCarla Daniela Robles-EspinozaRajiv M. PatelLouise van der WeydenChris BakalJason L. HornickMark J. ArendsThomas BrennDavid J. AdamsNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle Science
Q
Mamunur Rashid
Michiel van der Horst
Thomas Mentzel
Francesca Butera
Ingrid Ferreira
Alena Pance
Arno Rütten
Bostjan Luzar
Zlatko Marusic
Nicolas de Saint Aubain
Jennifer S. Ko
Steven D. Billings
Sofia Chen
Marie Abi Daoud
James Hewinson
Sandra Louzada
Paul W. Harms
Guia Cerretelli
Carla Daniela Robles-Espinoza
Rajiv M. Patel
Louise van der Weyden
Chris Bakal
Jason L. Hornick
Mark J. Arends
Thomas Brenn
David J. Adams
ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma
description Spiradenoma and cylindroma are skin adnexal tumors that can behave aggressively and undergo malignant transformation. Here, the authors genetically assess a cohort of these adnexal tumours, highlighting recurrent ALPK1 mutations and revealing the genomic landscape of these rare tumours.
format article
author Mamunur Rashid
Michiel van der Horst
Thomas Mentzel
Francesca Butera
Ingrid Ferreira
Alena Pance
Arno Rütten
Bostjan Luzar
Zlatko Marusic
Nicolas de Saint Aubain
Jennifer S. Ko
Steven D. Billings
Sofia Chen
Marie Abi Daoud
James Hewinson
Sandra Louzada
Paul W. Harms
Guia Cerretelli
Carla Daniela Robles-Espinoza
Rajiv M. Patel
Louise van der Weyden
Chris Bakal
Jason L. Hornick
Mark J. Arends
Thomas Brenn
David J. Adams
author_facet Mamunur Rashid
Michiel van der Horst
Thomas Mentzel
Francesca Butera
Ingrid Ferreira
Alena Pance
Arno Rütten
Bostjan Luzar
Zlatko Marusic
Nicolas de Saint Aubain
Jennifer S. Ko
Steven D. Billings
Sofia Chen
Marie Abi Daoud
James Hewinson
Sandra Louzada
Paul W. Harms
Guia Cerretelli
Carla Daniela Robles-Espinoza
Rajiv M. Patel
Louise van der Weyden
Chris Bakal
Jason L. Hornick
Mark J. Arends
Thomas Brenn
David J. Adams
author_sort Mamunur Rashid
title ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma
title_short ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma
title_full ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma
title_fullStr ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma
title_full_unstemmed ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma
title_sort alpk1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma
publisher Nature Portfolio
publishDate 2019
url https://doaj.org/article/8cf5f1bae6714e01b43eb450dac4bb01
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