Nov 2, 2011 - tumors from 31 patients was analyzed using a custom Illumina 384 SNP ..... MarkID software (Qiagen, UK) and assessed using the per- centage ...
IJC International Journal of Cancer
Metastatic cutaneous squamous cell carcinoma shows frequent deletion in the protein tyrosine phosphatase receptor Type D gene Sally R. Lambert1,2, Catherine A. Harwood1,2, Karin J. Purdie1,2, Abha Gulati1, Rubeta N. Matin1, Malgorzata Romanowska3, Rino Cerio1, David P. Kelsell1, Irene M. Leigh2,3 and Charlotte M. Proby2,3 1
Cancer Genetics
Centre for Cutaneous Research, Blizard Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, London, United Kingdom 2 Cancer Research UK Skin Tumour Laboratory, Blizard Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, London, United Kingdom 3 Division of Surgery and Oncology, College of Medicine, Dentistry and Nursing, University of Dundee Ninewells Hospital, Dundee, United Kingdom
Cutaneous squamous cell carcinoma (cSCC) is the second most common form of nonmelanoma skin cancer (NMSC), and its incidence is increasing rapidly. Metastatic cSCC accounts for the majority of deaths associated with NMSC, but the genetic basis for cSCC progression remains poorly understood. A previous study identified small deletions (typically 5 mm, immunosuppression and localization on the ear and lip.4–7 Metastatic cSCC is currently treated by surgical intervention and/or chemotherapy or radiotherapy and is associated with a poor outcome.8 Despite the well-established role of ultraviolet radiation (UVR) in the etiology of cSCC, the molecular events underlying its development remain largely undefined. Inactivation of the tumor suppressor genes TP53 and p16INK4A is a common and early event in cSCC pathogenesis and is characteristic of all histological grades of tumor.9,10 Recently, genotyping of 60 cSCC identified high rates of loss of heterozygosity (LOH)
of 3p and 9p in 65% and 75% of cases, respectively. Furthermore, reduced karyotypic complexity was observed in welldifferentiated (WD) cSCC, suggesting that low-grade tumors are a distinct subset of cSCC.11 Histologically, WD tumors show less nuclear atypia and a higher degree of keratinization than moderately (MD) and poorly differentiated (PD) tumors. However, there are no established molecular pathways that separate these subtypes of cSCC. The genotyping analysis cited above also identified small deletions (typically
