Browsing by Author "Norero Muñoz, Enrique Eduardo"
Now showing 1 - 2 of 2
Results Per Page
Sort Options
- ItemIdentification of c.1531C>T Pathogenic Variant in the CDH1 Gene as a Novel Germline Mutation of Hereditary Diffuse Gastric Cancer(2019) Norero Muñoz, Enrique Eduardo; Alarcón Alarcón, María Alejandra; Hakkaart, Cristopher; de Mayo, Tomás; Mellado Sagredo, Cecilia Ximena; Garrido Salvo, Marcelo Adán; Aguayo Bonniard, Gloria Alejandra; Lagos, Marcela; Torres, Javiera; Calvo, Alfonso; Guilford, Parry; Corvalan, Alejandro HGermline pathogenic variants in the CDH1 gene are a well-established cause of hereditary diffuse gastric cancer (HDGC) syndrome. The aim of this study was to characterize CDH1 mutations associated with HDGC from Chile, a country with one of the highest incidence and mortality rates in the world for gastric cancer (GC). Here, we prospectively include probands with family history/early onset of diffuse-type of GC. The whole coding sequence of the CDH1 gene was sequenced from genomic DNA in all patients, and a multidisciplinary team managed each family member with a pathogenic sequence variant. Thirty-six cases were included (median age 44 years/male 50%). Twenty-seven (75%) patients had diffuse-type GC at <= 50 years of age and 19 (53%) had first or second-degree family members with a history of HDGC. Two cases (5.5%) carried a non-synonymous germline sequence variant in the CDH1 gene: (a) The c.88C>A missense variant was found in a family with three diffuse-type GC cases; and (b) c.1531C>T a nonsense pathogenic variant was identified in a 22-year-old proband with no previous family history of HDGC. Of note, six family members carry the same nonsense pathogenic variant. Prophylactic gastrectomy in the proband's sister revealed stage I signet-ring cell carcinoma. The finding of 1531C>T pathogenic variant in the CDH1 in proband with no previous family history of HDGC warrants further study to uncover familial clustering of disease in CDH1 negative patients. This finding may be particularly relevant in high incidence countries, such as the case in this report.
- ItemTwo-stage esophagojejunal anastomosis: An alternative reconstruction in emergency gastrectomy for high-risk gastric cancer patients(2022) Pizarro, Eduardo; Vallejos, Rodrigo; Norero Muñoz, Enrique Eduardo; Diaz, Alfonso; Ceroni Villanelo, MarcoEmergency total gastrectomy for patients with gastric cancer who are in shock carries a high risk of esophagojejunal anastomosis leakage. No alternatives have been reported to reduce this risk. This study reports two patients with gastric cancer who were in shock and underwent emergency gastrectomy and two-stage esophagojejunal anastomosis with good results. In the first stage, immediately after gastrectomy, the esophagus was attached to a Roux-en-Y jejunal loop that prevented retraction of the esophagus into the mediastinum. In the second stage, in a second surgery, the esophagojejunal anastomosis was completed under better clinical conditions.