Genetic alterations in seborrheic keratoses.

摘要: // Barbara Heidenreich 1 , Evygenia Denisova Sivaramakrishna Rachakonda Onofre Sanmartin 2 Timo Dereani Ismail Hosen Eduardo Nagore and Rajiv Kumar 1, 3 Division of Molecular Genetic Epidemiology, German Cancer Research Center, Heidelberg, Germany Department Dermatology, Instituto Valenciano de Oncologia, Valencia, Spain Consortium for Translational (DKTK), Correspondence to: Kumar, email: r.kumar@dkfz.de Keywords: exome-sequencing, seborrheic keratosis, skin cancer, somatic mutations Received: February 21, 2017     Accepted: March 19, Published: 30, 2017 ABSTRACT Seborrheic keratoses are common benign epidermal lesions that associated with increased age sun-exposure. Those despite harboring multiple alterations in contrast to malignant tumors appear be genetically stable. In order investigate characterize the presence recurrent mutations, we performed exome sequencing on DNA from one keratosis lesion corresponding blood cells same patients follow up investigation identified by 24 additional as many patients. addition investigated all at specific genes loci included FGFR3 PIK3CA HRAS BRAF CDKN2A TERT DHPH3 promoters. The data indicated three per Mb targeted sequence. mutational pattern depicted typical UV signature majority being C>T CC>TT base changes dipyrimidinic sites. were most frequent, detected 12 25 (48%) lesions, followed (32%), promoter (24%) DPH3 (24%). present mainly excised head neck. Three also carried . FGFR3, expression did not correlate respective promoters; however, transcript levels FOXN1 levels, a suggested positive feedback loop stalls progression. Thus, this study report overall mutation rate through show frequent keratosis.