Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma

Kim Wong, Louise van der Weyden, Courtney R. Schott, Alastair Foote, Fernando Constantino-Casas, Sionagh Smith, Jane M. Dobson, Elizabeth P. Murchison, Hong Wu, Iwei Yeh, Douglas R. Fullen, Nancy Joseph, Boris C. Bastian, Rajiv M. Patel, Inigo Martincorena, Carla Daniela Robles-Espinoza, Vivek Iyer, Marieke L. Kuijjer, Mark J. Arends, Thomas Brenn, Paul W. Harms, Geoffrey A. Wood and David J. Adams ()
Additional contact information
Kim Wong: Wellcome Trust Genome Campus
Louise van der Weyden: Wellcome Trust Genome Campus
Courtney R. Schott: University of Guelph
Alastair Foote: High Street
Fernando Constantino-Casas: University of Cambridge
Sionagh Smith: Easter Bush Campus
Jane M. Dobson: University of Cambridge
Elizabeth P. Murchison: University of Cambridge
Hong Wu: University of California
Iwei Yeh: University of California
Douglas R. Fullen: University of Michigan Medical School
Nancy Joseph: University of California
Boris C. Bastian: University of California
Rajiv M. Patel: University of Michigan Medical School
Inigo Martincorena: Wellcome Trust Genome Campus
Carla Daniela Robles-Espinoza: Wellcome Trust Genome Campus
Vivek Iyer: Wellcome Trust Genome Campus
Marieke L. Kuijjer: Harvard T.H. Chan School of Public Health
Mark J. Arends: University of Edinburgh, Division of Pathology, Centre for Comparative Pathology, Cancer Research UK Edinburgh Centre, Institute of Genetics & Molecular Medicine, Western General Hospital, Crewe Road South
Thomas Brenn: Wellcome Trust Genome Campus
Paul W. Harms: University of Michigan Medical School
Geoffrey A. Wood: University of Guelph
David J. Adams: Wellcome Trust Genome Campus

Nature Communications, 2019, vol. 10, issue 1, 1-14

Abstract: Abstract Mucosal melanoma is a rare and poorly characterized subtype of human melanoma. Here we perform a cross-species analysis by sequencing tumor-germline pairs from 46 primary human muscosal, 65 primary canine oral and 28 primary equine melanoma cases from mucosal sites. Analysis of these data reveals recurrently mutated driver genes shared between species such as NRAS, FAT4, PTPRJ, TP53 and PTEN, and pathogenic germline alleles of BRCA1, BRCA2 and TP53. We identify a UV mutation signature in a small number of samples, including human cases from the lip and nasal mucosa. A cross-species comparative analysis of recurrent copy number alterations identifies several candidate drivers including MDM2, B2M, KNSTRN and BUB1B. Comparison of somatic mutations in recurrences and metastases to those in the primary tumor suggests pervasive intra-tumor heterogeneity. Collectively, these studies suggest a convergence of some genetic changes in mucosal melanomas between species but also distinctly different paths to tumorigenesis.

Date: 2019
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DOI: 10.1038/s41467-018-08081-1

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