P-159 Association of Acrochordons and Colorectal Polyps: A Pilot Study to Identify Potential Genetic or Viral Etiology

Several reports suggest that skin papilloma may be a marker for the presence of colonic adenomatous polyps. Since colorectal neoplasms have polyps as precancerous lesions, a strong correlation between the lesions could identify the right profile for the patient who could become the candidate for personalized screening for colon cancer. Despite the inconclusive data, no research was conducted to analyze the genome of lesions by techniques such as Next Generation Sequencing (NGS). The aim of our work was to be the first study to analyze biopsies from adenomatous polyps and acrochordons identified in the same patients, and also to determine any viral inclusions or potentially common driver mutations. In this pilot study, human papillomavirus (HPV) testing was done for low-risk and medium-risk subtypes. For both categories of subjects, NGS testing was chosen and a complete evaluation of 15 genes that are frequently mutated in solid tumors was carried out. A total of five patients were included in the study, four of whom were male. None of them had no digestive symptoms at baseline. On average, 4 biopsies of skin papilloma and 4 biopsies of colonic polyps were taken. If the patient had more than 4 lesions, the most relevant was chosen. DNA extraction was performed from paraffin embedded tissue with ReliaPrep ™ FFPE gDNA Miniprep System - Promega, and from colorectal polyps with the Wizard® Genomic DNA Purification Kit – Promega, in accordance to producer indications.[BG1] HPV testing was performed using the HIGH + LOW PAPILLOMASTRIP - PAPILLOMAVIRUS kit from OPERON, which can identify the following subtypes: Medium-high risk: 16, 18, 26, 31, 33, 35, 39, 45, 51, 52, 53, 56, 58, 59, 66, 68, 69, 73 and 82 (MM4 and IS39[BG2] ) and Low risk: 6, 11, 40, 42, 43, 44, 54, 61, 62, 67, 70, 71, 72, 74, 81, 83, 84 and 91. For the same samples NGS testing was performed using the TruSightTumor 15 panel (TST15) from Illumina. Target genes were AKT1, GNA11, NRAS, BRAF, GNAQ, PDGFRA, EGFR, KIT, PIK3CA, ERBB2, KRAS, RET, FOXL2, MET, TP53. In this small cohort of patients, no associations between acrochordons and colorectal polyps in terms of viral or genetic etiology were identified. An extensive investigation of several other predictors for colonic polyps may be valuable in detecting early carcinogenesis. These could help for future guidance in building effective screening programs, which is critical in preventing unnecessary patient morbidity and mortality.