Landscape of mutations in early stage primary cutaneous melanoma: An InterMEL study.

Autor: Luo L; Department of Internal Medicine and the UNM Comprehensive Cancer Center, Albuquerque, New Mexico, USA., Shen R; Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Arora A; Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York, USA.; Incyte, Wilmington, Delaware, USA., Orlow I; Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Busam KJ; Department of Pathology and Laboratory Science, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Lezcano C; Department of Pathology and Laboratory Science, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Lee TK; British Columbia Cancer Research Center, Vancouver, British Columbia, Canada., Hernando E; Langone Cancer Center, New York University, New York, New York, USA., Gorlov I; Epidemiology and Population Science, Baylor Medical Center, Houston, Texas, USA., Amos C; Epidemiology and Population Science, Baylor Medical Center, Houston, Texas, USA., Ernstoff MS; ImmunoOncology Branch, National Cancer Institute, Rockville, Maryland, USA., Seshan VE; Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Cust AE; The Daffodil Centre, The University of Sydney, a joint venture with Cancer Council NSW, Sydney, New South Wales, Australia.; Melanoma Institute of Australia, The University of Sydney, Sydney, New South Wales, Australia.; Sydney School of Public Health, The University of Sydney, Sydney, New South Wales, Australia., Wilmott J; Melanoma Institute of Australia, The University of Sydney, Sydney, New South Wales, Australia., Scolyer RA; Melanoma Institute of Australia, The University of Sydney, Sydney, New South Wales, Australia.; Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital and NSW Health Pathology, Sydney, New South Wales, Australia.; Charles Perkins Centre, The University of Sydney, Sydney, New South Wales, Australia., Mann G; John Curtin School of Medical Research, Australian National University, Acton, Australian Capital Territory, Australia., Nagore E; Instituto de Oncologia, Valencia, Spain., Funchain P; Cleveland Clinic Foundation, Cleveland, Ohio, USA., Ko J; Cleveland Clinic Foundation, Cleveland, Ohio, USA., Ngo P; Cleveland Clinic Foundation, Cleveland, Ohio, USA.; Department of Hospice and Palliative Care, University of South Florida, Tampa, Florida, USA., Edmiston SN; Department of Dermatology and Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, North Carolina, USA., Conway K; Department of Dermatology and Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, North Carolina, USA., Googe PB; Department of Dermatology and Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, North Carolina, USA., Ollila D; Department of Dermatology and Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, North Carolina, USA., Lee JE; The University of Texas MDAnderson Cancer Center, Houston, Texas, USA., Fang S; The University of Texas MDAnderson Cancer Center, Houston, Texas, USA., Rees JR; Dartmouth Cancer Center, Lebanon, New Hampshire, USA., Thompson CL; Case Western Reserve University, Cleveland, Ohio, USA.; Penn State University, Hershey, Pennsylvania, USA., Gerstenblith M; Case Western Reserve University, Cleveland, Ohio, USA., Bosenberg M; Department of Pathology, Yale University, New Haven, Connecticut, USA., Gould Rothberg B; Department of Pathology, Yale University, New Haven, Connecticut, USA., Osman I; Langone Cancer Center, New York University, New York, New York, USA., Saenger Y; Columbia University Medical School, New York, New York, USA.; Albert Einstein School of Medicine, New York, New York, USA., Reynolds AZ; Department of Internal Medicine and the UNM Comprehensive Cancer Center, Albuquerque, New Mexico, USA., Schwartz M; Department of Internal Medicine and the UNM Comprehensive Cancer Center, Albuquerque, New Mexico, USA., Boyce T; Department of Internal Medicine and the UNM Comprehensive Cancer Center, Albuquerque, New Mexico, USA., Holmen S; Huntsman Cancer Center, University of Utah, Salt Lake City, Utah, USA., Brunsgaard E; Huntsman Cancer Center, University of Utah, Salt Lake City, Utah, USA., Bogner P; Departments of Pathology and Dermatology, Roswell Park Comprehensive Cancer Center, Buffalo, New York, USA., Kuan PF; Stony Brook University, Stony Brook, New York, USA., Wiggins C; Department of Internal Medicine and the UNM Comprehensive Cancer Center, Albuquerque, New Mexico, USA., Thomas NE; Department of Dermatology and Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, North Carolina, USA., Begg CB; Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Berwick M; Department of Internal Medicine and the UNM Comprehensive Cancer Center, Albuquerque, New Mexico, USA.
Jazyk: angličtina
Zdroj: Pigment cell & melanoma research [Pigment Cell Melanoma Res] 2022 Nov; Vol. 35 (6), pp. 605-612. Date of Electronic Publication: 2022 Aug 12.
DOI: 10.1111/pcmr.13058
Abstrakt: It is unclear why some melanomas aggressively metastasize while others remain indolent. Available studies employing multi-omic profiling of melanomas are based on large primary or metastatic tumors. We examine the genomic landscape of early-stage melanomas diagnosed prior to the modern era of immunological treatments. Untreated cases with Stage II/III cutaneous melanoma were identified from institutions throughout the United States, Australia and Spain. FFPE tumor sections were profiled for mutation, methylation and microRNAs. Preliminary results from mutation profiling and clinical pathologic correlates show the distribution of four driver mutation sub-types: 31% BRAF; 18% NRAS; 21% NF1; 26% Triple Wild Type. BRAF mutant tumors had younger age at diagnosis, more associated nevi, more tumor infiltrating lymphocytes, and fewer thick tumors although at generally more advanced stage. NF1 mutant tumors were frequent on the head/neck in older patients with severe solar elastosis, thicker tumors but in earlier stages. Triple Wild Type tumors were predominantly male, frequently on the leg, with more perineural invasion. Mutations in TERT, TP53, CDKN2A and ARID2 were observed often, with TP53 mutations occurring particularly frequently in the NF1 sub-type. The InterMEL study will provide the most extensive multi-omic profiling of early-stage melanoma to date. Initial results demonstrate a nuanced understanding of the mutational and clinicopathological landscape of these early-stage tumors.
(© 2022 The Authors. Pigment Cell & Melanoma Research published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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