Histopathological and molecular analysis of gastrectomy specimens from hereditary diffuse gastric cancer patients has implications for endoscopic surveillance of individuals at risk

摘要: Hereditary diffuse gastric cancer (HDGC) is caused by germline E-cadherin (CDH1) mutations in 25-40% of tested families. Management options for asymptomatic mutation carriers are fraught, since endoscopic surveillance can miss foci and prophylactic gastrectomy has profound clinical sequelae. The aims this study were to evaluate the impact current practices on pre-operative diagnosis characterize microscopic lesions specimens better inform practice. Histological assessment mapping performed eight CDH1 carriers. expression proliferation analysed evidence epithelial-mesenchymal transition (EMT) was sought immunohistochemistry vimentin cytokeratin 8/18. Four patients had detected at surveillance. A median 20.5 (range 0-66) signet ring identified per (including situ pagetoid spread). Foci predominantly fundus body (90% biopsies 85% gastrectomy). likelihood detecting pre-operatively positively correlated with number taken specimen. reduced or absent all compared intervening tissue, suggesting that these polyclonal. a low proliferative index (<2%) there no EMT. Multiple biopsy sampling mucosa increases yield foci. lack EMT suggests may represent an indolent stage HDGC.