Desmoid fibromatosis of the esophagogastric junction

Revista Española De Enfermedades Digestivas : Organo Oficial De La Sociedad Española De Patología Digestiva
Raquel Díaz RuizJosé Antonio Pajares Díaz

Abstract

Desmoid fibromatosis is a mesenchymal clonal proliferation, which lacks metastatic potential. Nevertheless, it has an infiltrative growth and thus implies a high morbidity1. Although the etiology remains unclear, mutations in the B-catenin or APC genes are involved. Some risk factors include pregnancy, hormonal exposure or surgery. Desmoid fibromatosis can be sporadic (80%) or FAP-associated2. In sporadic cases, it is caused by mutations in the B-catenin (CTNNB1) gene. Whether it is FAP-associated or not should be determined, as the treatment for each condition is different. A radiologic test is essential for diagnosis, although a biopsy is necessary for confirmation. With regard to treatment, there is a wide range of different alternatives such as observation only, medical treatment or even surgery3. However, a recurrence rate that ranges from 30% to 40% have been reported in the major published series4 and thus, conservative treatment is more common nowadays. We present the case of an 82-year-old male with constitutional syndrome. A computed tomography was performed, which identified a 69 x 52mm mass in the oesophago-gastric union. A computed tomography guided biopsy was performed and the histological analysis identified a fu...Continue Reading

References

Aug 24, 1999·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·M T BalloR A Pollack
Apr 12, 2011·The Oncologist·Bernd KasperPeter Hohenberger
Aug 24, 2011·Annals of Oncology : Official Journal of the European Society for Medical Oncology·C EscobarG V Burton
Mar 1, 2012·Annals of Oncology : Official Journal of the European Society for Medical Oncology·C EscobarG V Burton

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Citations

Oct 20, 2020·World Journal of Gastroenterology : WJG·Donald Turbiville, Xuchen Zhang

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