Managing CDH1 Cancer Risks in a Child: Complex Decision Making in a Family With Hereditary Diffuse Gastric Cancer
American Journal of Medical Genetics, Part A, cilt.197, sa.2, 2025 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 197 Sayı: 2
- Basım Tarihi: 2025
- Doi Numarası: 10.1002/ajmg.a.63897
- Dergi Adı: American Journal of Medical Genetics, Part A
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Applied Science & Technology Source, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
- Anahtar Kelimeler: adolescent, CDH1, diffuse gastric cancer, pediatric, young adult
- Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Evet
Özet
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.