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Genomic characterisation of acral melanoma cell lines
Authors:Furney Simon J  Turajlic Samra  Fenwick Kerry  Lambros Maryou B  MacKay Alan  Ricken Gerda  Mitsopoulos Costas  Kozarewa Iwanka  Hakas Jarle  Zvelebil Marketa  Lord Christopher J  Ashworth Alan  Reis-Filho Jorge S  Herlyn Meenhard  Murata Hiroshi  Marais Richard
Institution:Signal Transduction Team, Division of Cancer Biology, Institute of Cancer Research, London, UK.
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/.
Keywords:acral melanoma  cell lines  exome sequencing  genomics  mutational signature
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