Molecular genetic alterations in hamaromatous polyps and carcinomas of patients with Peutz-Jegers syndrome

摘要

Aim-To investigate whether mutations in the STM11/LKB1 gene and genes implicated in the colorectal adenoma-carcinoma sequence are involved in Peutz-Jeghers syndrome (PJS) related tumorigenesis. Methods-Thirty nine polyps and five car- Cinomas from 17 patients (from 13 fami- Lies) with PJS were analysed for loss of Heterozygosity (LOH) at 19p13.3 (STK11/ LKB1 gene locus), 5q21 (APC gene locus), 18q21-22 (Smad4 and Smad2 gene locus), and 17p13 (p53 gene locus), and evaluated for immunohistochemical staining of p53. In addition, mutational analysis of K-ras Codon 12, APC, and p53 and immunohisto- Chemistry for Smad4 expression were Performed on all carcinomas.