Published January 1, 2025
| Version v1
Journal article
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Managing <i>CDH1</i> Cancer Risks in a Child: Complex Decision Making in a Family With Hereditary Diffuse Gastric Cancer
Creators
- 1. Umraniye Training & Res Hosp, Dept Pathol, Istanbul, Turkiye
- 2. Umraniye Training & Res Hosp, Dept Med Genet, Div Canc Genet, Istanbul, Turkiye
- 3. Umraniye Training & Res Hosp, Dept Pediat Gastroenterol, Istanbul, Turkiye
Description
Germline pathogenic variants (PVs) in CDH1 cause hereditary diffuse gastric cancer. The management of CDH1 cases with a positive family history includes total prophylactic gastrectomy or intensive surveillance. In this study, we report a 16-year-old boy with intramucosal gastric signet ring cells in the setting of a germline CDH1 PV and a family history of early-onset gastric cancer. The approach to managing both the proband and their 9-year-old sister, who also had the CDH1 PV, presented a challenge to both clinicians and the family. Herein, we present the complexities of managing gastric cancer risk when a CDH1 PV is identified in childhood in the setting of a family history of early-onset gastric cancer.
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