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Role of pathology in the identification of hereditary diffuse gastric cancer: report of a Portuguese family

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Abstract

Mutations in E-cadherin gene are the underlying genetic defect in approximately one-third of the hereditary diffuse gastric cancer (HDGC) families described to date. Positive family history of diffuse gastric cancer and early age of onset of gastric tumours are the clinical criteria currently used to qualify for HDGC. In the present study, we describe a Portuguese family with HDGC that was selected for CDH1 mutation screening after histological observation of the gastrectomy specimen of one member, who died at the age of 23 years from widely invasive diffuse gastric carcinoma. The detection in the surgical specimen of tiny foci of intramucosal diffuse carcinoma as well as in situ carcinoma lesions and pagetoid spread of signet ring cells raised the hypothesis of HDGC, which was confirmed by pedigree analysis of the family and detection of CDH1 germline mutation. We conclude that there are morphological hints that may help in the identification of HDGC.

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Acknowledgements

This study was funded by grants from Fundação para a Ciência e a Tecnologia, Portugal (POCTI/35374/CBO/2000 and POCTI/MGI/35586/1999) and by Programa Operacional Ciência, Tecnologia e Inovação (POCTI), of QCA III.

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Authors and Affiliations

  1. Institute of Molecular Pathology and Immunology, University of Porto (IPATIMUP), Rua Dr Roberto Frias s/n, 4200-465 , Porto, Portugal

    Carla Oliveira, Raquel Seruca, Manuel Cardoso de Oliveira, Manuel Cardoso de Oliveira & Fátima Carneiro

  2. Department of Surgery, Hospital S. João, Porto, Portugal

    Herculano Moreira & Manuel Cardoso de Oliveira

  3. Department of Pathology, Hospital S. João, Porto, Portugal

    Fátima Carneiro

  4. Medical Faculty, University of Porto, Porto, Portugal

    Raquel Seruca, Manuel Cardoso de Oliveira & Fátima Carneiro

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  1. Carla Oliveira
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  2. Herculano Moreira
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  3. Raquel Seruca
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  4. Manuel Cardoso de Oliveira
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  5. Fátima Carneiro
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Corresponding author

Correspondence to Fátima Carneiro.

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The authors wish it to be known that Carla Oliveira and Herculano Moreira should be regarded as joint first authors

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Oliveira, C., Moreira, H., Seruca, R. et al. Role of pathology in the identification of hereditary diffuse gastric cancer: report of a Portuguese family. Virchows Arch 446, 181–184 (2005). https://doi.org/10.1007/s00428-004-1156-4

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  • DOI: https://doi.org/10.1007/s00428-004-1156-4

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