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Two Pediatric Cases Within a Familial Cluster and Hereditary Diffuse Gastric Carcinoma: A Tale of 2 Sisters
Lacey Falgout1, Lawrence L Gensler2
1Department of Medicine, Louisiana State University Health Sciences Center, New Orleans, LA.
ACG Case Reports Journal
|July 21, 2023
Abstract:
Hereditary diffuse gastric cancer is a familial form of poorly differentiated signet ring cell carcinoma (SRCC) caused by a mutation in the CDH1/E-cadherin gene-mediating cell adhesion. CDH1 mutations are inherited in an autosomal dominant fashion and exhibit a high level of penetrance. SRCC diagnosis is exceedingly rare in the pediatric population. We report a case of SRCC in 2 sisters (10 and 15 years) and their father (41 years).
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