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Detection of a CDH1 Rare Transcript Variant in Fresh-frozen Gastric Cancer Tissues by Chip-based Digital PCR
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Performance of upper gastrointestinal endoscopy in CDH1 germline pathogenic variant carriers: A multicenter study
Joaquín Castillo-Iturra1,2,3,4, Joan Llach1,2,3, Irina Luzko1,2,3
1Department of Gastroenterology, Hospital Clínic de Barcelona, Barcelona, Spain.
International Journal of Cancer
|July 12, 2025
Summary
Hereditary diffuse gastric cancer (HDGC) surveillance in CDH1 gene carriers shows signet ring cell carcinoma (SRCC) is often missed by endoscopy. Enhanced endoscopic techniques are crucial for early SRCC detection in these high-risk individuals.
Area of Science:
- Gastroenterology
- Oncology
- Genetics
Background:
- Hereditary diffuse gastric cancer (HDGC) is linked to CDH1 gene mutations.
- Signet ring cell carcinoma (SRCC) is the characteristic histology in HDGC.
- Endoscopic surveillance is standard for CDH1 carriers.
Purpose of the Study:
- To characterize CDH1 carriers during endoscopic surveillance.
- To assess upper gastrointestinal endoscopy (UGE) performance in detecting SRCC.
- To identify factors associated with SRCC diagnosis in HDGC patients.
Main Methods:
- Observational, multicenter study of 53 CDH1 carriers.
- Analysis of surveillance UGE findings and subsequent gastrectomy results.
- Comparison of chromoendoscopy versus conventional white light endoscopy.
Main Results:
- SRCC was detected in 37.7% of CDH1 carriers.
- UGE initially detected only 45% of SRCC cases.
- Chromoendoscopy showed a significantly higher SRCC detection rate (OR=20).
Conclusions:
- SRCC remains undetected in a significant proportion of HDGC patients despite UGE.
- Current endoscopic surveillance may not be sufficient for early SRCC detection.
- Improved endoscopic techniques, like chromoendoscopy, are needed for HDGC management.
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