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 Bastian; Rajiv M.  Patel; Iñigo Martincorena; Carla Daniela  Robles-Espinoza; Vivek Iyer; Marieke L.  Kuijjer; Mark J. Arends; Thomas Brenn; Paul W.  Harms; Geoffrey A.  Wood; David J Adams

doi:10.1038/s41467-018-08081-1

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 Bastian , Rajiv M. Patel, Iñigo Martincorena, Carla Daniela Robles-Espinoza, Vivek Iyer, Marieke L. Kuijjer, Mark J. Arends, Thomas BrennPaul W. Harms, Geoffrey A. Wood, David J Adams

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Abstract / Description of output

Mucosal melanoma is a rare and poorly characterized subtype of human melanoma. We performed 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 revealed recurrently mutated driver genes shared between species such as NRAS, FAT4, PTPRJ, TP53 and PTEN, and pathogenic germline alleles of BRCA1, BRCA2 and TP53. A UV mutation signature was identified 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 identified several candidate drivers including MDM2, B2M, KNSTRN and BUB1B. Comparison of somatic mutations in recurrences and metastases to those in the primary tumor suggested 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.

Original language	English
Journal	Nature Communications
DOIs	https://doi.org/10.1038/s41467-018-08081-1
Publication status	Published - 21 Jan 2019

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Mark Arends
- M.Arendsed.acuk
- Deanery of Molecular, Genetic and Population Health Sciences - Chair of Pathology
- Edinburgh Pathology
- Edinburgh Cancer Research Centre
Person: Academic: Research Active

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Wong, K., van der Weyden, L., Schott, C. R., Foote, A., Constantino-Casas, F., Smith, S., Dobson, J. M., Murchison, E. P., Wu, H., Yeh, I., Fullen, D. R., Joseph, N., Bastian , B., Patel, R. M., Martincorena, I., Robles-Espinoza, C. D., Iyer, V., Kuijjer, M. L., Arends, M. J., ... Adams, D. J. (2019). Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma. Nature Communications. https://doi.org/10.1038/s41467-018-08081-1

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title = "Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma",

abstract = "Mucosal melanoma is a rare and poorly characterized subtype of human melanoma. We performed 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 revealed recurrently mutated driver genes shared between species such as NRAS, FAT4, PTPRJ, TP53 and PTEN, and pathogenic germline alleles of BRCA1, BRCA2 and TP53. A UV mutation signature was identified 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 identified several candidate drivers including MDM2, B2M, KNSTRN and BUB1B. Comparison of somatic mutations in recurrences and metastases to those in the primary tumor suggested 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. ",

author = "Kim Wong and {van der Weyden}, Louise and Schott, {Courtney R.} and Alastair Foote and Fernando Constantino-Casas and Sionagh Smith and Dobson, {Jane M.} and Murchison, {Elizabeth P} and Hong Wu and Iwei Yeh and Fullen, {Douglas R.} and Nancy Joseph and Boris Bastian and Patel, {Rajiv M.} and I{\~n}igo Martincorena and Robles-Espinoza, {Carla Daniela} and Vivek Iyer and Kuijjer, {Marieke L.} and Arends, {Mark J.} and Thomas Brenn and Harms, {Paul W.} and Wood, {Geoffrey A.} and Adams, {David J}",

year = "2019",

month = jan,

day = "21",

doi = "10.1038/s41467-018-08081-1",

language = "English",

journal = "Nature Communications",

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Wong, K, van der Weyden, L, Schott, CR, Foote, A, Constantino-Casas, F, Smith, S, Dobson, JM, Murchison, EP, Wu, H, Yeh, I, Fullen, DR, Joseph, N, Bastian , B, Patel, RM, Martincorena, I, Robles-Espinoza, CD, Iyer, V, Kuijjer, ML, Arends, MJ, Brenn, T, Harms, PW, Wood, GA & Adams, DJ 2019, 'Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma', Nature Communications. https://doi.org/10.1038/s41467-018-08081-1

TY - JOUR

T1 - Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma

AU - Wong, Kim

AU - van der Weyden, Louise

AU - Schott, Courtney R.

AU - Foote, Alastair

AU - Constantino-Casas, Fernando

AU - Smith, Sionagh

AU - Dobson, Jane M.

AU - Murchison, Elizabeth P

AU - Wu, Hong

AU - Yeh, Iwei

AU - Fullen, Douglas R.

AU - Joseph, Nancy

AU - Bastian , Boris

AU - Patel, Rajiv M.

AU - Martincorena, Iñigo

AU - Robles-Espinoza, Carla Daniela

AU - Iyer, Vivek

AU - Kuijjer, Marieke L.

AU - Arends, Mark J.

AU - Brenn, Thomas

AU - Harms, Paul W.

AU - Wood, Geoffrey A.

AU - Adams, David J

PY - 2019/1/21

Y1 - 2019/1/21

N2 - Mucosal melanoma is a rare and poorly characterized subtype of human melanoma. We performed 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 revealed recurrently mutated driver genes shared between species such as NRAS, FAT4, PTPRJ, TP53 and PTEN, and pathogenic germline alleles of BRCA1, BRCA2 and TP53. A UV mutation signature was identified 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 identified several candidate drivers including MDM2, B2M, KNSTRN and BUB1B. Comparison of somatic mutations in recurrences and metastases to those in the primary tumor suggested 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.

AB - Mucosal melanoma is a rare and poorly characterized subtype of human melanoma. We performed 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 revealed recurrently mutated driver genes shared between species such as NRAS, FAT4, PTPRJ, TP53 and PTEN, and pathogenic germline alleles of BRCA1, BRCA2 and TP53. A UV mutation signature was identified 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 identified several candidate drivers including MDM2, B2M, KNSTRN and BUB1B. Comparison of somatic mutations in recurrences and metastases to those in the primary tumor suggested 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.

U2 - 10.1038/s41467-018-08081-1

DO - 10.1038/s41467-018-08081-1

M3 - Article

SN - 2041-1723

JO - Nature Communications

JF - Nature Communications

ER -

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

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