家族性聚集性病例及遗传性弥漫性胃癌中的两例儿科病例：两姐妹的故事
Two Pediatric Cases Within a Familial Cluster and Hereditary Diffuse Gastric Carcinoma: A Tale of 2 Sisters.
作者信息
Falgout Lacey, Gensler Lawrence L
机构信息
Department of Medicine, Louisiana State University Health Sciences Center, New Orleans, LA.
Northlake Gastroenterology Associates, Covington, LA.
出版信息
ACG Case Rep J. 2023 Jul 19;10(7):e01100. doi: 10.14309/crj.0000000000001100. eCollection 2023 Jul.
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).
遗传性弥漫性胃癌是一种由CDH1/E-钙黏蛋白基因突变介导细胞黏附所引起的家族性低分化印戒细胞癌（SRCC）。CDH1突变以常染色体显性方式遗传，且具有高度外显率。SRCC在儿科人群中的诊断极为罕见。我们报告了一例发生在两姐妹（10岁和15岁）及其父亲（41岁）身上的SRCC病例。
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