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Risk-reducing total gastrectomy in asymptomatic CDH1 carriers

Experience of a tertiary hospital

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Summary

Background

Hereditary diffuse gastric cancer is an autosomal dominant cancer susceptibility syndrome characterized by increased risk for gastric cancer and lobular breast cancer and mainly caused by germline alterations in the CDH1 gene.

Methods

This was an observational, retrospective, and unicentric study. Clinical data from patients with hereditary diffuse gastric cancer who had risk-reducing total gastrectomy between June 2005 and January 2018 were collected. A thorough histopathological analysis of gastrectomy specimens was performed, according to the current recommendations of the International Gastric Cancer Linkage Consortium.

Results

In 59 families fulfilling the clinical criteria for CDH1 testing, we identified the same CDH1 missense pathogenic variant in five families. Thirty-nine CDH1 carriers were identified. Four CDH1 carriers died with advanced diffuse gastric cancer, 19 chose risk-reducing total gastrectomy, and 16 opted for endoscopic surveillance, despite being duly informed of the limited utility of periodic gastric endoscopy in this context. The 19 asymptomatic CDH1 carriers undergoing surgery had an age range of 14–63 years (median, 39 years) and the median hospital stay was 6 days. Laparoscopic total gastrectomy was performed on four of 19 CDH1 carriers. There were no cases of mortality or major morbidity in this procedure. The range of weight loss in our series was 13%. Histopathological examination of the entirety of gastric mucosa revealed intramucosal gastric carcinoma foci (pT1a) in 17 of 19 (89.5%) total gastrectomy specimens. No lymph node metastases were detected (pN0).

Conclusion

Risk-reducing total gastrectomy remains the best clinical management for patients with hereditary diffuse gastric cancer harboring a germline, pathogenic CDH1 variant. In our series, intramucosal carcinoma foci were found in the great majority (89.5%) of CDH1 carriers.

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Author information

Authors and Affiliations

  1. Department of General Surgery, Centro Hospitalar Universitário de São João (CHUSJ), Alameda Professor Hernâni Monteiro, 4200-319, Porto, Portugal

    Vítor Devezas, Manuela Baptista, Fabiana Sousa, John Preto, Susy Costa, Elisabete Barbosa & José Barbosa

  2. Department of General Surgery, Faculty of Medicine, University of Porto (FMUP), Porto, Portugal

    Vítor Devezas, João Rocha, Fabiana Sousa, Susy Costa, Elisabete Barbosa & José Barbosa

  3. Department of General Surgery, CHUSJ, Porto, Portugal

    Manuela Baptista

  4. Department of Pathology, CHUSJ, Porto, Portugal

    Irene Gullo, Wen Xiaogang & Fátima Carneiro

  5. Departament of Pathology, FMUP, Porto, Portugal

    Irene Gullo, Wen Xiaogang, Carla Oliveira & Fátima Carneiro

  6. Institute of Molecular Pathology and Immunology, University of Porto (Ipatimup), Porto, Portugal

    Irene Gullo, Wen Xiaogang, Carla Oliveira & Fátima Carneiro

  7. Institute for Research Innovation in Health (i3S), University of Porto, Porto, Portugal

    Irene Gullo, Wen Xiaogang, Sérgio Castedo & Carla Oliveira

  8. Department of General Surgery—Responsible of the Center for High Differentiation in Bariatric Surgery, CHUSJ, Porto, Portugal

    John Preto

  9. Department of General Surgery—Breast Center, CHUSJ, Porto, Portugal

    Susy Costa

  10. Oncogenetic Consultation, Breast Center, CHUSJ, Porto, Portugal

    Sérgio Castedo & Luzia Garrido

  11. Department of Genetics, CHUSJ, Porto, Portugal

    Sérgio Castedo

  12. Department of Genetics, FMUP, Porto, Portugal

    Sérgio Castedo

  13. Department of General Surgery, Responsible of the Colorectal Unit, CHUSJ, Porto, Portugal

    Elisabete Barbosa

  14. Department of Pathology, CHUSJ, Porto, Portugal

    Fátima Carneiro

  15. Department of General Surgery—Responsible of the Esophageal and Gastric Surgery Unit, CHUSJ, Porto, Portugal

    José Barbosa

Authors
  1. Vítor Devezas
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  2. Manuela Baptista
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  3. Irene Gullo
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  8. Susy Costa
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  9. Sérgio Castedo
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  13. Fátima Carneiro
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  14. José Barbosa
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Corresponding author

Correspondence to Vítor Devezas.

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Conflict of interest

V. Devezas, M. Baptista, I. Gullo, J. Rocha, F. Sousa, W. Xiaogang, J. Preto, S. Costa, S. Castedo, L. Garrido, C. Oliveira, E. Barbosa, F. Carneiro, and J. Barbosa declare that they have no competing interests.

Ethical standards

All procedures performed in studies involving human participants or on human tissue were in accordance with the ethical standards of the institutional and/or national research committee and with the 1975 Helsinki declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all individual participants included in the study.

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The authors V. Devezas and M. Baptista contributed equally to the first authorship.

The authors F. Carneiro and J. Barbosa contributed equally to the last authorship.

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All of the authors contributed to this article. All authors approved the final manuscript.

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Devezas, V., Baptista, M., Gullo, I. et al. Risk-reducing total gastrectomy in asymptomatic CDH1 carriers. Eur Surg 52, 171–178 (2020). https://doi.org/10.1007/s10353-020-00630-7

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