title: Hereditary diffuse gastric cancer: multidisciplinary case report with review of the literature.
abstract: Hereditary diffuse gastric cancer (HDGC) is a rare, inherited cancer syndrome with at least one fourth of HDGC patients having an autosomal dominantly inherited mutation of CDH1 (E-Cadherin). Penetrance is relatively high (70-80% lifetime risk for gastric cancer). It is important for pathologists to recognize the syndrome's phenotype in early gastric lesions: patchy intramucosal signet ring cells often associated with pagetoid spread. Due to the insidious nature of this lesion, surveillance is limited and currently prophylactic gastrectomy is an option chosen by many HDGC patients. We present a case report from a multidisciplinary team of authors with a review of the literature that includes the updated guidelines for CDH1 genetic testing.
authors.affiliation: Surgical Pathology Department, University of Vermont/Fletcher Allen Hospital, EP2-107 111 Colchester Avenue Burlington, VT 05401, USA.
authors.forename: Rebecca
authors.initials: R
authors.lastname: Wilcox
authors.forename: Melody
authors.initials: M
authors.lastname: Perpich
authors.forename: Amy
authors.initials: A
authors.lastname: Noffsinger
authors.forename: Mitchell C
authors.initials: MC
authors.lastname: Posner
authors.forename: Kumarasen
authors.initials: K
authors.lastname: Cooper