Prophylactic total gastrectomy for familial gastric cancer

• Tipo: Artigo em Revista Científica Internacional
• Data: 2001

Autores

Lewis, FR (Autor) Outra; Mellinger, JD (Autor) Outra; Hayashi, A (Autor) Outra; Lorelli, D (Autor) Outra; Monaghan, KG (Autor) Outra; Carneiro F (Autor) FMUP; Huntsman, DG (Autor) Outra; Jackson, CE (Autor) Outra; Caldas, C (Autor) Outra

Revista

Título: Surgery

Vol. 130

Páginas: 612-617

ISSN: 0039-6060

Editora: Elsevier

Indexação

ISI Web of Knowledge - 109 Citações

Scopus - 130 Citações

Outras Informações

ID Authenticus: P-000-T7R

DOI: 10.1067/msy.2001.117099

Abstract (EN): Background. An autosomal dominant syndrome of diffuse gastric cancer has been reported with germline mutations in the E-cadherin (CDH1) gene and has been identified in approximately 14 families and 50 individuals worldwide. Penetrance of the gene is 70% to 80%, and thr average age of onset of gastric cancer is 37 years. These characteristics have led to the consideration of prophylactic total gastrectomy in family members with CDH1 mutations. Methods. We report here the first use of prophylactic gastrectomy in 6 asymptomatic members of 2 families (2 males, 4 females; ages 22 27, 28, 35, 39, and 40) based on family pedigree and genetic analysis. Total gastrectomy was performed via an upper midline incision, and reconstruction of the gastrointestinal tract was done via a Roux-en-Y esophagojejunostomy. Complete, removal of all gastric mucosa was documented intraoperatively, and confirmation was made that only esophageal mucosa remained at the proximal specimen margin. Results. The gastric specimens appeared normal, and the results of routine pathologic examination were negative for cancer. All specimens from patients who tested positive for E-cadherin mutations were subjected to a research protocol of microscopic sectioning in which 150 to 250 tissue blocks were examined. All of these patients had microscopic foci of cancer, often at multiple sites, with overlying normal gastric mucosa. Conclusions. E-cadherin gene mutations in association with familial gastric cancer is a new disease for which prophylactic surgery must be considered. The morbidity of this operation is much higher than that for other genetic diseases, but the alternative is a mortality risk,, of more than 80% at a young age.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 6