Hereditary diffuse gastric cancer: strategies to reduce tumoral risk.
The main goal at a High-Risk Gastrointestinal Cancer Clinic is to identify individuals at increased risk of developing tumors for diagnosis them in presymptomatic stages, when they are potentially curable. We report an asymptomatic patient belonging to a family with hereditary diffuse gastric cancer syndrome with a novel pathogenic mutation in the E-cadherin gene. In the absence of any proven diagnostic tool in surveillance tumor of this syndrome, the recommendation accepted today for an asymptomatic individual with known mutation is to perform prophylactic surgery. This patient underwent total laparoscopic gastrectomy. A microscopic focus of tumor was detected in the surgical specimen. Strategies to reduce the tumor risk in the hereditary diffuse gastric cancer syndrome are limited, but it is necessary to recognize them in order to treat these patients accordingly to the available evidence.
Prevention Unit and High-Risk Gastrointestinal Cancer Clinic, Department of Gastroenterology, University Clinic of Navarra, Pamplona, Navarra, Spain. mherraizb@unav.es
Maite
M
Herráiz
Víctor
V
Valentí
Jesús
J
Sola
Pilar
P
Pérez-Rojo
Fernando
F
Rotellar
Javier A
JA
Cienfuegos
D000230:Adenocarcinoma / Q000175:diagnosis / Q000235:genetics / Q000517:prevention & control*; D015703:Antigens, CD; D015820:Cadherins / Q000235:genetics*; D018389:Codon, Nonsense; D005260:Female; D005743:Gastrectomy; D005819:Genetic Markers; D006801:Humans; D008875:Middle Aged; D013274:Stomach Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000517:prevention & control*
D015703:Antigens, CD; C513384:CDH1 protein, human; D015820:Cadherins; D018389:Codon, Nonsense; D005819:Genetic Markers