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The role of endoscopy in the management of hereditary diffuse gastric cancer syndrome

world Journal of Gastroenterology 2019年第23期25卷 2878-2886页

作者： Shria Kumar Jessica M Long Gregory G Ginsberg bryson w katona Division of Gastroenterology University of Pennsylvania Perelman School of MedicinePhiladelphiaPA 19104United States Division of Hematology and Oncology University of Pennsylvania Perelman School of MedicinePhiladelphiaPA 19104United States

Hereditary diffuse gastric cancer(HDGC) syndrome is an inherited cancer risk syndrome associated with path-ogenic germline CDH1 variants. Given the high risk for developing diffuse gastric cancer, CDH1 carriers are recommended to undergo prophylactic total gastrectomy for cancer risk reduction. Current guidelines recommend upper endoscopy in CDH1 carriers prior to surgery and then annually for individuals deferring prophylactic total *** of individuals from HDGC families without CDH1 pathogenic variants remains less clear, and management of families with CDH1 pathogenic variants in the absence of a family history of gastric cancer is particularly problematic at present. Despite adherence to surveillance protocols, endoscopic detection of cancer foci in HDGC is suboptimal and imperfect for facilitating decision-making. Alternative endoscopic modalities, such as chromoendoscopy,endoscopic ultrasound, and other non-white light methods have been utilized,but are of limited utility to further improve cancer detection and risk stratification in HDGC. Herein, we review what is known and what remains unclear about endoscopic surveillance for HDGC, among individuals with and without germline CDH1 pathogenic variants. Ultimately, the use of endoscopy in the management of HDGC remains a challenging arena, but one in which further research to improve surveillance is crucial.

关键词： CDH1 gene Hereditary diffuse gastric cancer Gastric cancer Endoscopic screening Endoscopy

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Uptake and outcomes of small intestinal and urinary tract cancer surveillance in Lynch syndrome

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world Journal of Clinical Oncology 2021年第11期12卷 1023-1036页

作者： Jeshua DeJesse Ravy K Vajravelu Christina Dudzik Gillain Constantino Jessica M Long Kirk J wangensteen Kathleen D Valverde bryson w katona Department of Genetics University of PennsylvaniaPhiladelphiaPA 19104United States Division of Gastroenterology and Hepatology University of Pennsylvania Perelman School of MedicinePhiladelphiaPA 19104United States Division of Hematology and Oncology University of PennsylvaniaPhiladelphiaPA 19104United States

BACKGROUND Lynch syndrome(LS)is a hereditary cancer predisposition syndrome associated with increased risk of multiple *** colorectal cancer surveillance decreases mortality in LS and is recommended by guidelines,there is lack of evidence for the efficacy of surveillance for extra-colonic cancers associated with LS,including small intestinal cancer(SIC)and urinary tract cancer(UTC).Given the limited evidence,guidelines do not consistently recommend surveillance for SIC and UTC,and it remains unclear how often individuals will choose to undergo and follow through with extra-colonic surveillance *** To study factors associated with SIC and UTC surveillance uptake and outcomes in *** This is an IRB-approved retrospective analysis of individuals with LS seen at a tertiary care referral *** individuals had a pathogenic or likely pathogenic variant in MLH1,MSH2,MSH6,PMS2,or EPCAM,or were a confirmed obligate carrier,and had at least one documented visit to our *** regarding SIC and UTC surveillance was captured for each individual,and detailed personal and family history was obtained for individuals who had an initial LS management visit in our center’s dedicated high-risk LS clinic between January 1,2017 and October 29,*** these initial management visits,all patients had in-depth discussions of SIC and UTC surveillance with 1 of 3 providers experienced in LS management to promote informed decision-making about whether to pursue SIC and/or UTC *** analysis using Pearson’s chi-squared test and wilcoxon rank-sum test was completed to understand the factors associated with pursuit and completion of SIC and UTC surveillance,and a P value below 0.05 was deemed statistically *** Of 317 individuals with LS,86(27%)underwent a total of 105 SIC surveillance examinations,with 5 leading to additional work-up and no SICs ***,99(31%)patients underwent a total of 3

关键词： Lynch syndrome Urinary tract cancer Intestinal neoplasms Early diagnosis of cancer Patient preference Gastrointestinal surgical procedure

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