ReviewBMC gastroenterology2013
Synchronous appendiceal and intramucosal gastric signet ring cell carcinomas in an individual with CDH1-associated hereditary diffuse gastric carcinoma: a case report of a novel association and review of the literature.
Review in BMC gastroenterology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 27 citations in OpenAlex.
- Hereditary diffuse gastric cancer in progress: Comparative lessons from Lynch syndrome.European journal of human genetics : EJHG · 2026Review
- Immune, molecular and genetic profiles of gastric signet ring cell carcinoma: Recent progress and future challenges.International journal of cancer · 2026Review
- The Changing Landscape of Hereditary Diffuse Gastric Cancer.Journal of gastric cancer · 2026Review
- Clinical importance of E-cadherin deficiency in resectable gastric cancer: A nested case-control study.Oncology letters · 2025Article
- Epidemiology and prognostic analysis of patients with pancreatic signet ring cell carcinoma: a population-based study.BMC gastroenterology · 2022Article
- Hereditary Diffuse Gastric Cancer: Molecular Genetics, Biological Mechanisms and Current Therapeutic Approaches.International journal of molecular sciences · 2022Review
- Nomograms to predict individual prognosis of patients with primary signet ring cell carcinoma of the urinary bladder.Translational cancer research · 2021Article
- Article
- Review
- Epidemiology of Signet Ring Cell Adenocarcinomas.Cancers · 2020Article
- Hereditary gastric cancer: Three rules to reduce missed diagnoses.World journal of gastroenterology · 2020Review
- Synchronous multiple primary gastrointestinal cancers withWorld journal of clinical cases · 2019Article
- Clinical spectrum and pleiotropic nature ofJournal of medical genetics · 2019Review
- Hereditary diffuse gastric cancer: how to look for and how to manage it.Updates in surgery · 2018Review
- CDH1 Gene and Hereditary Diffuse Gastric Cancer Syndrome: Molecular and Histological Alterations and Implications for Diagnosis And Treatment.Frontiers in pharmacology · 2018Review
- Article
- Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers.Journal of medical genetics · 2015Review
- Presymptomatic identification of CDH1 germline mutation in a healthy korean individual with family history of gastric cancer.Annals of laboratory medicine · 2014Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHereditary diffuse gastric carcinoma is an autosomal dominant cancer syndrome associated with mutations of the E-cadherin gene (CDH1). E-cadherin is normally involved in cell-cell adhesion, so it not surprising that individuals with this syndrome are predisposed to develop malignancies with dyshesive morphologies at a young age, such as diffuse (signet ring cell) gastric carcinoma and lobular breast carcinoma. Herein we describe the first reported case of primary appendiceal signet ring cell carcinoma arising in a CDH1-associated hereditary diffuse gastric carcinoma kindred with synchronous primary diffuse gastric carcinoma. CASE PRESENTATION: A 51- year old woman, with known CDH1 mutation carrier status and a prior history of lobular breast carcinoma underwent prophylactic total gastrectomy which revealed multifocal intramucosal signet ring cell carcinoma. An appendectomy was performed at the same time due to a prior episode of presumed appendicitis, with pathologic examination significant for a primary signet ring cell carcinoma of the appendix.
conclusionAs appendiceal signet ring cell carcinoma is exceedingly rare, the occurrence of this neoplasm in this patient, with this particular morphology, provides credence for it being part of the hereditary diffuse gastric carcinoma spectrum of malignancies.
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