UV-associated mutations underlie the etiology of MCV-negative Merkel cell carcinomas

Cancer Research

Volumn 75, Issue 24, 2015, Pages 5228-5234

  Wong, Stephen Q ^a   Waldeck, Kelly ^a   Vergara, Ismael A ^a   Schröder, Jan ^a,b,c   Madore, Jason ^d   Wilmott, James S ^d   Colebatch, Andrew J ^a,c   De Paoli Iseppi, Ricardo ^d   Li, Jason ^a   Lupat, Richard ^a   Semple, Timothy ^a   Arnau, Gisela Mir ^a   Fellowes, Andrew ^a   Leonard, J Helen ^e   Hruby, George ^d   Mann, Graham J ^d   Thompson, John F ^d   Cullinane, Carleen ^a   Johnston, Meredith ^a   Shackleton, Mark ^a,c   Sandhu, Shahneen ^a,c   Bowtell, David D L ^a,c   Johnstone, Ricky W ^a,c   Fox, Stephen B ^a,c   McArthur, Grant A ^a,c   Papenfuss, Anthony T ^a,b,c   Scolyer, Richard A ^d   Gill, Anthony J ^f   Hicks, Rodney J ^a,c   Tothill, Richard W ^a,c   more..

^a PETER MACCALLUM CANCER CENTRE   (Australia)

^b WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d UNIVERSITY OF SYDNEY   (Australia)

^e QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^f UNIVERSITY OF SYDNEY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

PROGRAMMED DEATH 1 LIGAND 1; TRANSCRIPTOME;

AKT1 GENE; ARTICLE; CANCER GENETICS; CONTROLLED STUDY; COPY NUMBER VARIATION; DNA DAMAGE; DNA SEQUENCE; FAT1 GENE; FGFR2 GENE; GENE; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; HRAS GENE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LYMPHOCYTIC INFILTRATION; MERKEL CELL POLYOMAVIRUS; MERKEL CELL TUMOR; NF1 GENE; NONHUMAN; NOTCH1 GENE; PATHOGENESIS; PIK3CA GENE; PIK3CG GENE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; RB1 GENE; T LYMPHOCYTE; TP53 GENE; ULTRAVIOLET RADIATION; ADVERSE EFFECTS; CELL CULTURE; DNA MUTATIONAL ANALYSIS; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; POLYMERASE CHAIN REACTION; RADIATION RESPONSE; SKIN TUMOR; WESTERN BLOTTING;

BLOTTING, WESTERN; CARCINOMA, MERKEL CELL; CELLS, CULTURED; DNA DAMAGE; DNA MUTATIONAL ANALYSIS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; IMMUNOHISTOCHEMISTRY; MERKEL CELL POLYOMAVIRUS; MUTATION; POLYMERASE CHAIN REACTION; SKIN NEOPLASMS; TRANSCRIPTOME; ULTRAVIOLET RAYS;

EID: 84955498320     PISSN: 00085472     EISSN: 15387445     Source Type: Journal    
DOI: 10.1158/0008-5472.CAN-15-1877     Document Type: Article

References (20)

1. Albores-Saavedra J, Batich K, Chable-Montero F, Sagy N, Schwartz AM, Henson DE. Merkel cell carcinoma demographics, morphology, and survival based on 3870 cases: a population based study. J Cutan Pathol 2010;37:20-7.
2. Paik JY, Hall G, Clarkson A, Lee L, Toon C, Colebatch A, et al. Immunohistochemistry for Merkel cell polyomavirus is highly specific but not sensitive for the diagnosis of Merkel cell carcinoma in the Australian population. Hum Pathol 2011;42:1385-90.
3. Chang Y, Moore PS. Merkel cell carcinoma: a virus-induced human cancer. Annu Rev Pathol 2012;7:123-44.
4. Ramahi E, Choi J, Fuller CD, Eng TY. Merkel cell carcinoma. Am J Clin Oncol 2013;36:299-309.
5. Becker JC, Schrama D, Houben R. Merkel cell carcinoma. Cell Mol Life Sci 2009;66:1-8.
6. Tothill RW, Li J, Mileshkin L, Doig K, Siganakis T, Cowin P, et al. Massively-parallel sequencing assists the diagnosis and guided treatment of cancers of unknown primary. J Pathol 2013;231:413-23.
7. Schroder J, Hsu A, Boyle SE, Macintyre G, Cmero M, Tothill RW, et al. Socrates: identification of genomic rearrangements in tumour genomes by re-aligning soft clipped reads. Bioinformatics. 2014 Jan 22. [Epub ahead of print].
8. Boeva V, Popova T, Bleakley K, Chiche P, Cappo J, Schleiermacher G, et al. Control-FREEC: a tool for assessing copy number and allelic content using next-generation sequencing data. Bioinformatics 2012;28:423-5.
9. Madore J, Vilain RE, Menzies AM, Kakavand H, Wilmott JS, Hyman J, et al. PD-L1 expression in melanoma shows marked heterogeneity within and between patients: implications for anti-PD-1/PD-L1 clinical trials. Pigment Cell Melanoma Res 2015;28:245-53.
10. Alexandrov LB, Nik-Zainal S, Wedge DC, Campbell PJ, Stratton MR. Deciphering signatures ofmutational processes operative in human cancer. Cell Rep 2013;3:246-59.
11. Cimino PJ, Robirds DH, Tripp SR, Pfeifer JD, Abel HJ, Duncavage EJ. Retinoblastoma gene mutations detected by whole exome sequencing of Merkel cell carcinoma. Mod Pathol 2014;8:1073-87.
12. Paulson KG, Lemos BD, Feng B, Jaimes N, Peñas PF, Bi X, et al. Array-CGH reveals recurrent genomic changes in Merkel cell carcinoma including amplification of L-Myc. J Invest Dermatol 2009;129:1547-55.
13. Hafner C, Houben R, Baeurle A, Ritter C, Schrama D, Landthaler M, et al. Activation of the PI3K/AKT pathway in Merkel cell carcinoma. PLoS ONE 2012;7:e31255.
14. Nardi V, Song Y, Santamaria-Barria JA, Cosper AK, Lam Q, Faber AC, et al. Activation of PI3K signaling in Merkel cell carcinoma. Clin Cancer Res 2012;18:1227-36.
15. Topalian SL, Hodi FS, Brahmer JR, Gettinger SN, Smith DC, McDermott DF, et al. Safety, activity, and immune correlates of anti-PD-1 antibody in cancer. N Engl J Med 2012;366:2443-54.
16. Snyder A, Makarov V, Merghoub T, Yuan J, Zaretsky JM, Desrichard A, et al. Genetic basis for clinical response to CTLA-4 blockade in melanoma. N Engl J Med 2014;371:2189-99.
17. Lipson EJ, Vincent JG, Loyo M, Kagohara LT, Luber BS, Wang H, et al. PD-L1 expression in the Merkel cell carcinoma microenvironment: association with inflammation, Merkel cell polyomavirus and overall survival. Cancer Immunol Res 2013;1:54-63.
18. Morrison KM, Miesegaes GR, Lumpkin EA, Maricich SM. Mammalian Merkel cells are descended from the epidermal lineage. Dev Biol 2009;336:76-83.
19. South AP, Purdie KJ, Watt SA, Haldenby S, den Breems NY, Dimon M, et al. NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis. J Invest Dermatol 2014;134:2630-8.
20. Martincorena I, Roshan A, Gerstung M, Ellis P, Van Loo P, McLaren S, et al. Tumor evolution. High burden and pervasive positive selection of somatic mutations in normal human skin. Science 2015;348:880-6.