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
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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