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Whole-genome sequencing of acral melanoma reveals genomic complexity and diversity.
Newell, Felicity; Wilmott, James S; Johansson, Peter A; Nones, Katia; Addala, Venkateswar; Mukhopadhyay, Pamela; Broit, Natasa; Amato, Carol M; Van Gulick, Robert; Kazakoff, Stephen H; Patch, Ann-Marie; Koufariotis, Lambros T; Lakis, Vanessa; Leonard, Conrad; Wood, Scott; Holmes, Oliver; Xu, Qinying; Lewis, Karl; Medina, Theresa; Gonzalez, Rene; Saw, Robyn P M; Spillane, Andrew J; Stretch, Jonathan R; Rawson, Robert V; Ferguson, Peter M; Dodds, Tristan J; Thompson, John F; Long, Georgina V; Levesque, Mitchell P; Robinson, William A; Pearson, John V; Mann, Graham J; Scolyer, Richard A; Waddell, Nicola; Hayward, Nicholas K.
Afiliação
  • Newell F; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia. felicity.newell@qimrberghofer.edu.au.
  • Wilmott JS; Melanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.
  • Johansson PA; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
  • Nones K; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
  • Addala V; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
  • Mukhopadhyay P; School of Medicine, The University of Queensland, Brisbane, QLD, Australia.
  • Broit N; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
  • Amato CM; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
  • Van Gulick R; School of Medicine, The University of Queensland, Brisbane, QLD, Australia.
  • Kazakoff SH; Center for Rare Melanomas, University of Colorado Cancer Center, Aurora, Colorado, USA.
  • Patch AM; Center for Rare Melanomas, University of Colorado Cancer Center, Aurora, Colorado, USA.
  • Koufariotis LT; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
  • Lakis V; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
  • Leonard C; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
  • Wood S; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
  • Holmes O; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
  • Xu Q; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
  • Lewis K; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
  • Medina T; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
  • Gonzalez R; Center for Rare Melanomas, University of Colorado Cancer Center, Aurora, Colorado, USA.
  • Saw RPM; Center for Rare Melanomas, University of Colorado Cancer Center, Aurora, Colorado, USA.
  • Spillane AJ; Center for Rare Melanomas, University of Colorado Cancer Center, Aurora, Colorado, USA.
  • Stretch JR; Melanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.
  • Rawson RV; Sydney Medical School, The University of Sydney, Sydney, NSW, Australia.
  • Ferguson PM; Royal Prince Alfred Hospital, Sydney, NSW, Australia.
  • Dodds TJ; Melanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.
  • Thompson JF; Sydney Medical School, The University of Sydney, Sydney, NSW, Australia.
  • Long GV; Royal North Shore Hospital, Sydney, NSW, Australia.
  • Levesque MP; Melanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.
  • Robinson WA; Sydney Medical School, The University of Sydney, Sydney, NSW, Australia.
  • Pearson JV; Royal Prince Alfred Hospital, Sydney, NSW, Australia.
  • Mann GJ; Melanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.
  • Scolyer RA; Sydney Medical School, The University of Sydney, Sydney, NSW, Australia.
  • Waddell N; Royal Prince Alfred Hospital, Sydney, NSW, Australia.
  • Hayward NK; New South Wales Health Pathology, Sydney, NSW, Australia.
Nat Commun ; 11(1): 5259, 2020 10 16.
Article em En | MEDLINE | ID: mdl-33067454
ABSTRACT
To increase understanding of the genomic landscape of acral melanoma, a rare form of melanoma occurring on palms, soles or nail beds, whole genome sequencing of 87 tumors with matching transcriptome sequencing for 63 tumors was performed. Here we report that mutational signature analysis reveals a subset of tumors, mostly subungual, with an ultraviolet radiation signature. Significantly mutated genes are BRAF, NRAS, NF1, NOTCH2, PTEN and TYRP1. Mutations and amplification of KIT are also common. Structural rearrangement and copy number signatures show that whole genome duplication, aneuploidy and complex rearrangements are common. Complex rearrangements occur recurrently and are associated with amplification of TERT, CDK4, MDM2, CCND1, PAK1 and GAB2, indicating potential therapeutic options.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias Cutâneas / Melanoma Limite: Female / Humans / Male Idioma: En Revista: Nat Commun Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias Cutâneas / Melanoma Limite: Female / Humans / Male Idioma: En Revista: Nat Commun Ano de publicação: 2020 Tipo de documento: Article