Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status
Autor: | Carlos Caldas, Massimiliano di Pietro, Maria O'Donovan, Paul C. Fletcher, Ella Z Mi, Krish Ragunath, Rebecca C. Fitzgerald, Hisham Ziauddeen, Richard H. Hardwick, Marc Tischkowitz, Susan Richardson, Emma Mi |
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Rok vydání: | 2018 |
Předmět: |
Male
Time Factors Biopsy AEI allelic expression imbalance Gastroenterology 0302 clinical medicine Signet ring cell carcinoma Longitudinal Studies Prospective Studies Prospective cohort study Early Detection of Cancer medicine.diagnostic_test RRTG risk-reducing total gastrectomy CDH1+ CDH1 pathogenic variant SF-36 36-item Short Form Health Survey Middle Aged SRCC signet ring cell carcinoma Cadherins Population Surveillance 030220 oncology & carcinogenesis GC gastric cancer Female 030211 gastroenterology & hepatology DGC diffuse gastric cancer Hereditary diffuse gastric cancer Adult medicine.medical_specialty Article PPI proton pump inhibitor 03 medical and health sciences Germline mutation Antigens CD Stomach Neoplasms Internal medicine Gastroscopy medicine Carcinoma Humans Radiology Nuclear Medicine and imaging Germ-Line Mutation Survival analysis business.industry Cancer medicine.disease HDGC hereditary diffuse gastric cancer QoL quality of life Surgery CDH1-NPVD CDH1 no pathogenic variant detected EORTC-QOL-C30 European Organization for Research and Treatment of Cancer Quality of Life Questionnaire Core 30 Gastric Mucosa Quality of Life business Carcinoma Signet Ring Cell |
Zdroj: | Gastrointestinal Endoscopy |
ISSN: | 0016-5107 |
Popis: | Background and Aims Hereditary diffuse gastric cancer (HDGC) accounts for 1% of gastric cancer cases. For patients with a germline CDH1 mutation, risk-reducing gastrectomy is recommended. However, for those delaying surgery or for families with no causative mutation identified, regular endoscopy is advised. This study aimed to determine the yield of signet ring cell carcinoma (SRCC) foci in individuals with a CDH1 pathogenic variant compared with those without and how this varies with successive endoscopies. Methods Patients fulfilling HDGC criteria were recruited to a prospective longitudinal cohort study. Endoscopy was performed according to a strict protocol with visual inspection followed by focal lesion and random biopsy sampling to detect foci of SRCC. Survival analysis determined progression to finding of SRCC according to CDH1 mutation status. The European Organization for Research and Treatment of Cancer Quality of Life Questionnaire Core 30 and 36-item Short Form Health Survey questionnaires assessed quality of life before surveillance and each endoscopy. Results Eighty-five individuals fulfilling HDGC criteria underwent 201 endoscopies; 54 (63.5%) tested positive for CDH1 mutation. SRCC yield was 61.1% in CDH1 mutation carriers compared with 9.7% in noncarriers, and mutation-positive patients had a 10-fold risk of SRCC on endoscopy compared with those with no mutation detected (P < .0005). Yield of SRCC decreased substantially with subsequent endoscopies. Surveillance was associated with improved psychological health. Conclusions SRCC foci are prevalent in CDH1 mutation carriers and can be detected at endoscopy using a standardized, multiple biopsy sampling protocol. Decreasing yield over time suggests that the frequency of endoscopy might be reduced. For patients with no CDH1 pathogenic variant detected, the cost-to-benefit ratio needs to be assessed in view of the low yield. |
Databáze: | OpenAIRE |
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