Nature Communications (May 2019)
ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma
- 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
Affiliations
- Mamunur Rashid
- Experimental Cancer Genetics, Wellcome Trust Sanger Institute
- Michiel van der Horst
- Department of Pathology, Maasstad Hospital
- Thomas Mentzel
- Dermatopathologie Friedrichshafen
- Francesca Butera
- Dynamical Cell Systems Laboratory. Chester Beatty Laboratories, Division of Cancer Biology. Institute of Cancer Research
- Ingrid Ferreira
- Experimental Cancer Genetics, Wellcome Trust Sanger Institute
- Alena Pance
- Experimental Cancer Genetics, Wellcome Trust Sanger Institute
- Arno Rütten
- Dermatopathologie Friedrichshafen
- Bostjan Luzar
- Institute of Pathology, Medical Faculty University of Ljubljana
- Zlatko Marusic
- University Hospital Center Zagreb
- Nicolas de Saint Aubain
- Institut Jules Bordet
- Jennifer S. Ko
- Department of Pathology, Cleveland Clinic
- Steven D. Billings
- Department of Pathology, Cleveland Clinic
- Sofia Chen
- Experimental Cancer Genetics, Wellcome Trust Sanger Institute
- Marie Abi Daoud
- Departments of Pathology & Laboratory Medicine and Medicine and The Arnie Charbonneau Cancer Institute, Cumming School of Medicine, University of Calgary
- James Hewinson
- Experimental Cancer Genetics, Wellcome Trust Sanger Institute
- Sandra Louzada
- Experimental Cancer Genetics, Wellcome Trust Sanger Institute
- Paul W. Harms
- Departments of Pathology and Dermatology, University of Michigan Medical School
- Guia Cerretelli
- Division of Pathology, Cancer Research UK Edinburgh Centre, The University of Edinburgh, Institute of Genetics & Molecular Medicine
- Carla Daniela Robles-Espinoza
- Experimental Cancer Genetics, Wellcome Trust Sanger Institute
- Rajiv M. Patel
- Departments of Pathology and Dermatology, University of Michigan Medical School
- Louise van der Weyden
- Experimental Cancer Genetics, Wellcome Trust Sanger Institute
- Chris Bakal
- Dynamical Cell Systems Laboratory. Chester Beatty Laboratories, Division of Cancer Biology. Institute of Cancer Research
- Jason L. Hornick
- Department of Pathology, Brigham and Women’s Hospital, Harvard Medical School
- Mark J. Arends
- Division of Pathology, Cancer Research UK Edinburgh Centre, The University of Edinburgh, Institute of Genetics & Molecular Medicine
- Thomas Brenn
- Departments of Pathology & Laboratory Medicine and Medicine and The Arnie Charbonneau Cancer Institute, Cumming School of Medicine, University of Calgary
- David J. Adams
- Experimental Cancer Genetics, Wellcome Trust Sanger Institute
- DOI
- https://doi.org/10.1038/s41467-019-09979-0
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 10
Abstract
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.
