title: Genomic characterisation of acral melanoma cell lines.
abstract: Acral melanoma is a rare melanoma subtype with distinct epidemiological, clinical and genetic features. To determine if acral melanoma cell lines are representative of this melanoma subtype, six lines were analysed by whole-exome sequencing and array comparative genomic hybridisation. We demonstrate that the cell lines display a mutation rate that is comparable to that of published primary and metastatic acral melanomas and observe a mutational signature suggestive of UV-induced mutagenesis in two of the cell lines. Mutations were identified in oncogenes and tumour suppressors previously linked to melanoma including BRAF, NRAS, KIT, PTEN and TP53, in cancer genes not previously linked to melanoma and in genes linked to DNA repair such as BRCA1 and BRCA2. Our findings provide strong circumstantial evidence to suggest that acral melanoma cell lines and acral tumours share genetic features in common and that these cells are therefore valuable tools to investigate the biology of this aggressive melanoma subtype. Data are available at: http://rock.icr.ac.uk/collaborations/Furney_et_al_2012/.
authors.affiliation: Signal Transduction Team, Division of Cancer Biology, Institute of Cancer Research, London, UK.
authors.forename: Simon J
authors.initials: SJ
authors.lastname: Furney
authors.forename: Samra
authors.initials: S
authors.lastname: Turajlic
authors.forename: Kerry
authors.initials: K
authors.lastname: Fenwick
authors.forename: Maryou B
authors.initials: MB
authors.lastname: Lambros
authors.forename: Alan
authors.initials: A
authors.lastname: MacKay
authors.forename: Gerda
authors.initials: G
authors.lastname: Ricken
authors.forename: Costas
authors.initials: C
authors.lastname: Mitsopoulos
authors.forename: Iwanka
authors.initials: I
authors.lastname: Kozarewa
authors.forename: Jarle
authors.initials: J
authors.lastname: Hakas
authors.forename: Marketa
authors.initials: M
authors.lastname: Zvelebil
authors.forename: Christopher J
authors.initials: CJ
authors.lastname: Lord
authors.forename: Alan
authors.initials: A
authors.lastname: Ashworth
authors.forename: Jorge S
authors.initials: JS
authors.lastname: Reis-Filho
authors.forename: Meenhard
authors.initials: M
authors.lastname: Herlyn
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Murata
authors.forename: Richard
authors.initials: R
authors.lastname: Marais
mesh_terms: D045744:Cell Line, Tumor; D059472:Exome / Q000235:genetics; D015894:Genome, Human / Q000235:genetics*; D006801:Humans; D008545:Melanoma / Q000145:classification* / Q000235:genetics*; D018895:Microsatellite Repeats / Q000235:genetics; D009154:Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012878:Skin Neoplasms / Q000145:classification* / Q000235:genetics*