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Aims: Mutations of the E-cadherin gene (CDH1) result in dominantly inherited hereditary diffuse gastric cancer (HDGC). We report a study in the first family diagnosed with HDGC in Spain, examining the presence of mutations in the CDH1 gene., Methods: The presence of mutations was studied by direct sequencing of all CDH1 exons. Immunohistochemical analysis with specific antibodies was used to detect the expression of E-cadherin in normal and tumour tissue., Results: A novel 1610delC mutation in exon 11 has been found in a Spanish family diagnosed with HDGC. This mutation generates a premature stop codon at position 1667 giving rise to a truncated protein that lacks the transmembrane and beta-catenin-binding domains. The presence of a 1610delC germline mutation was confirmed in three family members diagnosed with diffuse gastric cancer, and also in six asymptomatic members. Of note, the diffuse gastric cancer coexisted with a gastric lymphoma in the proband. Furthermore, immunohistochemical analyses of tumour tissue showed the complete absence of E-cadherin in the proband, revealing a second genetic hit at the CDH1 locus., Conclusions: We have identified a HDGC family in Spain that carries a novel germline truncating mutation in the CDH1 gene.

Aim: To investigate whether flow cytometry could help to define the optimal therapeutic strategy of primary gastric lymphomas., Material and Method: Retrospective study of 46 patients having primary gastric lymphoma--according to Dawson criteria--in Ann Arbor stage IE and IIE, who were surgically treated. From selected paraffin-embedded tissue blocks of the tumor, DNA content was studied by flow cytometry (FC). Other pathological tumor features were analysed by hematoxiline-eosine and Giemsa stains as well as immunohistochemical study; any possible influence on postoperative survival was investigated through statistical analysis., Results: The DNA ploidy pattern was diploid in 40 cases (87%) and aneuploid (hyperdiploid) in 6 (13%). Postoperative survival probability (PSP) was 62.7% at 5 years. Statistical analysis showed significant prognostic value for Ann Arbor classification--with higher PSP for stage IE (p = 0.009)--and FC parameters: diploid tumors had higher PSP than aneuploid tumors. Also tumors having S-phase (p = 0.044) or G2-M phase values (p = 0.023) under the respective mean values had higher PSP. No influence on PSP was found for wall invasion, Helicobacter pylori infection, Isaacson's histologic type or resection margin involvement. No significant relationship was appreciated between Isaacson's histologic type and DNA ploidy patterns., Conclusion: FC could be useful in assessing gastric lymphoma prognosis.

Objective: To analyze the results of our series in order to assess whether surgical excision is still a valid therapeutic option in case the patient needs surgery. Secondarily, to analyze Helicobacter pylori infection rate., Patients and Method: A retrospective study of 69 consecutive patients having stage IE-IIE primary gastric lymphoma; of these, 65 were treated by gastrectomy between 1974 and 1999. Mean age: 62.6 years (28-85). New staining of paraffin-embedded samples from the surgical specimen were carried out (hematoxiline-eosine, Giemsa, immunohistochemistry) and reviewed. The histological classification was performed according to Isaacson's criteria. The statistical analysis was done by Chi-squared and Fisher's exact tests, as well as Kaplan-Meier and Log-Rank tests., Results: Mortality was 9.2%. There were non-fatal complications in 10.8%. Helicobacter pylori was identified in 62.7%. Seven patients (11.9%) suffered a relapse. The 5-year survival probability was 87%. The statistical analysis did not show any influences of Ann Arbor stage, gastric wall invasion, Helicobacter pylori infection, histological type, or margin resection involvement on survival., Conclusions: Surgical excision provides a high rate of complete remissions and excellent long-term survival with acceptable mortality. Therefore it appears to be a valid treatment in case of emergency surgery, incidental finding, or lack of histological diagnosis.