Please use this identifier to cite or link to this item:
https://ahro.austin.org.au/austinjspui/handle/1/20310
Title: | Molecular genomic profiling of melanocytic nevi. | Austin Authors: | Colebatch, Andrew J;Ferguson, Peter;Newell, Felicity;Kazakoff, Stephen H;Witkowski, Tom ;Dobrovic, Alexander ;Johansson, Peter A;Saw, Robyn Pm;Stretch, Jonathan R;McArthur, Grant A;Long, Georgina V;Thompson, John F;Pearson, John V;Mann, Graham J;Hayward, Nicholas K;Waddell, Nicola;Scolyer, Richard A;Wilmott, James S | Affiliation: | Royal North Shore Hospital, Sydney, NSW.. Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, VIC, Australia Centre for Cancer Research, Westmead Institute for Medical Research, The University of Sydney, Westmead, NSW, Australia QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia Olivia Newton-John Cancer Research Institute, Heidelberg, Victoria, Australia Melanoma Institute Australia, The University of Sydney, NSW, Australia Tissue Pathology & Diagnostic Oncology, Royal Prince Alfred Hospital, Camperdown, NSW, Australia School of Cancer Medicine and Molecular Cancer Prevention Program, La Trobe University, Bundoora, Victoria, Australia Department of Clinical Pathology, University of Melbourne, Parkville, Victoria, Australia Sydney Medical School, The University of Sydney, Sydney, NSW, Australia Department of Melanoma and Surgical Oncology, Discipline of Surgery, Royal Prince Alfred Hospital, Sydney, NSW Australia Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia |
Issue Date: | 14-Feb-2019 | Date: | 2019-02-14 | Publication information: | The Journal of investigative dermatology 2019; online first: 14 February | Abstract: | The benign melanocytic nevus is the commonest tumor in humans and rarely transforms into cutaneous melanoma. Elucidation of the nevus genome is required to better understand the molecular steps of progression to melanoma. We performed whole genome sequencing on a series of 14 benign melanocytic nevi, consisting of both congenital and acquired types. All nevi had driver mutations in the MAPK signalling pathway, either BRAF V600E or NRAS Q61R/L. No additional definite driver mutations were identified. Somatic mutations in nevi with higher mutation loads showed a predominance of mutational signatures 7a and 7b, consistent with ultraviolet radiation exposure, whereas nevi with lower mutation loads (including all three congenital nevi) had a predominance of the ubiquitous signatures 1 and 5. Two nevi had mutations in promoter regions predicted to bind ETS-family transcription factors as well as subclonal mutations in the TERT promoter. This paper presents whole genome data from melanocytic nevi. We confirm that ultraviolet radiation is involved in the etiology of a subset of nevi. This study also establishes that TERT promoter mutations are present in morphologically benign skin nevi in subclonal populations, which has implications regarding the interpretation of this emerging biomarker in sensitive assays. | URI: | https://ahro.austin.org.au/austinjspui/handle/1/20310 | DOI: | 10.1016/j.jid.2018.12.033 | Journal: | The Journal of investigative dermatology | PubMed URL: | 30772300 | Type: | Journal Article | Subjects: | Genome TERT melanocytic nevi melanoma pathology whole genome sequencing |
Appears in Collections: | Journal articles |
Show full item record
Items in AHRO are protected by copyright, with all rights reserved, unless otherwise indicated.