Two Pediatric Cases Within a Familial Cluster and Hereditary Diffuse Gastric Carcinoma: A Tale of 2 Sisters

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 diagnos...

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Detalles Bibliográficos
Autores principales: Falgout, Lacey, Gensler, Lawrence L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10356119/
https://www.ncbi.nlm.nih.gov/pubmed/37476473
http://dx.doi.org/10.14309/crj.0000000000001100
Descripción
Sumario: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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