Journal
HISTOPATHOLOGY
Volume 78, Issue 1, Pages 125-147Publisher
WILEY
DOI: 10.1111/his.14228
Keywords
CDH1; CTNNA1; familial adenomatous polyposis; GAPPS; hereditary gastric cancer; Lynch syndrome; signet‐ ring cell carcinoma; stomach
Categories
Funding
- Norte Portugal Regional Operational Programme (NORTE 2020), under the PORTUGAL 2020 Partnership Agreement, through the European Regional Development Fund (ERDF) [NORTE01-0145-FEDER-000003/000029]
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Despite being rare, recognizing key features of hereditary gastric cancer syndromes is essential for appropriate treatment. The article focuses on HDGC and emphasizes the importance of understanding different phenotypes of lesions, as well as the increased risk of gastric malignancies in patients with other hereditary cancer syndromes.
Despite the relative rarity of hereditary gastric cancer syndromes, the prompt recognition of their specific clinical features and histopathological characteristics is pivotal in offering patients the most appropriate treatment. In this article, we address the three major inherited syndromes that primarily affect the stomach: hereditary diffuse gastric cancer (HDGC), caused by germline variants in CDH1 and CTNNA1; gastric adenocarcinoma and proximal polyposis of the stomach, caused by germline mutations in promoter 1B of APC; and familial intestinal gastric cancer, which has a poorly defined genetic cause. The main focus will be on HDGC, in light of the recent publication of updated clinical practice guidelines and emerging concepts regarding HDGC histopathology. In particular, we describe the broad morphological spectrum of HDGC lesions, stressing the importance of recognising indolent and aggressive phenotypes. Moreover, we discuss the increased risk of gastric (pre)malignancies developing in patients with other well-defined hereditary cancer syndromes, such as familial adenomatous polyposis, Lynch syndrome, Peutz-Jeghers syndrome, juvenile polyposis, Li-Fraumeni syndrome, and hereditary breast and ovarian cancer syndrome.
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