Somatic Testing on Gynecological Cancers Improve the Identification of Lynch Syndrome.

Objective: Recent data from the literature indicate gynecological cancers (GCs) as sentinel cancers for a diagnosis of Lynch syndrome (LS). Clinical approaches to identifying LS have low sensitivity, whereas somatic tests on GCs may be a more sensitive and cost-effective strategy.

Methods: A series of 78 GCs belonging to 74 patients sent to the Genetic Counselling Service were investigated using microsatellite instability, immunohistochemical expression of mismatch repair (MMR) genes, and MLH1 promoter methylation.

Identifying factors contributing to reduced breast tumor size: a longitudinal study.

Aim: This study examines the trends and outcomes of breast cancer patients who have undergone surgical procedures at the Department of Surgical Sciences, University of Insubria, Varese, Italy. It also identifies the factors that contributed to the reduction of the breast tumor size over a 13-year period at a tertiary referral center.

Methods: All breast cancer operations performed at the Department of Surgical Sciences, University of Insubria, Varese, Italy, from January 1992 to June 2005 were examined and data from their surgical pathology reports were also analyzed, using a prospective database.

Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.

We report the clinicopathological, genetic, and immunohistochemical characterization of an atypical Turcot syndrome (TS) family with small bowel cancer. The tumor family history of a patient with cafè-au-lait spots (CALS) and early onset adenomas, duodenal cancer, and glioblastoma was positive for colonic adenoma (mother), jejunal (maternal grandfather), lung (father), and colorectal (paternal uncle) cancers. PMS2 genetic testing identified the nonsense 1951C>T (Q643X) and the missense 161C>T (S46I) mutations.

Histopathology, hormone products, and clinicopathological profile of endocrine tumors of the upper small intestine: A study of 44 cases.

Forty-two duodenal and 3 upper jejunum tumors from 44 patients were investigated. All tumors were tested immunohistochemically for gastroenteropancreatic hormones and general endocrine cell markers. Twenty-eight of the 45 tumors (62%) proved to be gastrin cell tumors, with (12 cases) or without (16 cases) associated Zollinger-Ellison syndrome.