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Current advances and challenges in Managing Hereditary Diffuse Gastric Cancer (HDGC): a narrative review
L van der Sluis1,2, J M van Dieren2, R S van der Post3
1Department of Gastroenterology, Radboud university medical centre, Nijmegen, The Netherlands.
Hereditary Cancer in Clinical Practice
|October 8, 2024
Summary
Hereditary diffuse gastric cancer (HDGC) risk from CDH1 pathogenic variants (PVs) may be lower than previously thought. This suggests reconsidering prophylactic total gastrectomy (PTG) for all carriers in favor of surveillance strategies.
Area of Science:
- Oncology
- Genetics
- Gastroenterology
Background:
- CDH1 pathogenic variants (PVs) are linked to hereditary diffuse gastric cancer (HDGC), increasing risks for diffuse gastric cancer (DGC) and lobular breast cancer (LBC).
- Prophylactic total gastrectomy (PTG) is the standard for DGC risk reduction in CDH1 PV carriers due to poor DGC prognosis.
- Widespread genetic testing identifies more CDH1 PV carriers, including those with lower cancer history or penetrance.
Purpose of the Study:
- To evaluate the current recommendation of prophylactic total gastrectomy (PTG) for all CDH1 pathogenic variant (PV) carriers.
- To explore alternative management strategies like endoscopic surveillance for CDH1 PV carriers.
- To refine surveillance goals towards identifying atypical, infiltrating lesions rather than all early-stage lesions.
Main Methods:
- Review of recent findings on cumulative lifetime risk of advanced DGC in CDH1 PV carriers.
- Analysis of reasons for PTG refusal among CDH1 PV carriers.
- Examination of pathological findings in PTG specimens, including early-stage signet ring cell (SRC) lesions.
Main Results:
- The cumulative lifetime risk of advanced DGC in CDH1 PV carriers is estimated to be significantly lower (13-19%) than previously believed.
- Approximately one-third of CDH1 PV carriers decline PTG due to its lifelong physical and psychological impact.
- PTG specimens frequently contain small, low-stage (pT1a) signet ring cell (SRC) lesions with unpredictable behavior.
Conclusions:
- The uniform recommendation for PTG in all CDH1 PV carriers warrants re-evaluation given the lower estimated risk of advanced DGC and patient reluctance towards surgery.
- Endoscopic surveillance emerges as a potential alternative strategy, focusing on detecting more aggressive lesions.
- Understanding the progression of SRC lesions and their endoscopic/histological features is crucial for personalized management of CDH1 PV carriers.
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