Browsing by Author "Calvo, Alfonso"

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    Identification 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 H
    Germline 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.
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    Long-term Results of Endoscopic Submucosal Dissection (ESD) for the Treatment of Early Gastric Cancer (EGC) in a High-volume Latin American Center
    (2021) Mejía, Ricardo; Sáez, Josefina; Norero, Enrique; Briones, Pamela; Ceroni, Marco; Martínez, Cristian; Díaz, Alfonso; Calvo, Alfonso; Sharp, Allan
    Background: Gastric cancer is the second leading cause of death by cancer worldwide. Endoscopic submucosal dissection (ESD) is a technique that allows en bloc resection of early lesions of the digestive tract. It has curative potential in selected patients and benefits over gastrectomy for the treatment of early gastric cancer (EGC). The aim of this study is to present the results of ESD for EGC in a high-volume center in Chile. Materials and Methods: Retrospective descriptive study of patients who underwent ESD for EGC at the Doctor Sótero del Río Hospital. Results: A total of 100 ESDs were performed in 96 patients between 2008 and 2020. Fifty-five percent were female patients, the average age was 68 years (range, 45 to 89 y). En bloc resection was achieved in 98% of cases and the rate of complications Clavien grade III or higher was 8.3%. There were no cases of perioperative mortality. Ninety-three percent of the dissections were classified as R0 and 83% met curative standards according to expanded criteria. The mean follow-up was 42 months (range, 1 to 144 mo). Overall survival was 97%. Cancer-specific survival was 100% and recurrence-free survival was 97%. Conclusions: The present study describes the largest series of ESD for the treatment of EGC reported in Latin America. Our results support the feasibility of implementing ESD in Chile and indicate good oncological outcomes comparable to those reported in the large Asian series published to date.