RESUMO
Background and Aim: To compare the prevalence of extra-esophageal cancers in patients diagnosed with Barrett’s esophagus (BE) and esophageal adenocarcinoma (EAC) with SEER database. Methods: Patients with BE and EAC are part of a NIH supported Familial Barrett’s investigation involving personal and family history and pathology correlation recorded in the database. Data pertaining to extra-esophageal cancers in the proband was extracted into an excel datasheet for analysis. Expected prevalence obtained from SEER (Surveillance, Epidemiology and End Results) NIH database (1973-2006) for the general population, matched for age, was compared with our cohort. Chi-square test was used for statistical analysis. Results: There were 1091 probands in the database of whom 876 had complete personal history. The mean age was 57.6 (5-84 years) with 807 Caucasians and 710 males. Overall incidence of extra-esophageal cancers was higher in our cohort when compared with the general population. Conclusion: There is a strong association of certain cancer types in patients with BE and EAC. However, further epidemiologic and genetic research is needed for investigation and development of genetic fingerprints
RESUMO
Introducción: el CGDH se hereda en forma autosómica dominante. Su sospecha se basa en los antecedentes familiares y su confirmación requiere estudios moleculares. En el 40% de las familias se logra identificar una mutación en el gen CDH1 de la caderina- E que permite discriminar a los portadores y no portadores. La prevención para los portadores de la mutación incluye la gastrectomía profiláctica o la vigilancia endoscópica cada 6 a 12 meses. Objetivo: presentar el caso de una familia con CGDH portadora de una mutación en gen CDH1 no previamente reportada. Caso: mujer de 28 años, gastrectomizada por cáncer gástrico de tipo difuso con antecedentes familiares de cáncer gástrico que mostraba un patrón de herencia autosómico dominante (afectación de 9 miembros en 5 generaciones). Con sospecha de CGDH se comenzó un plan de vigilancia endoscópica y se analizó el ADN purificado de la sangre periférica de la paciente afectada mediante la secuenciación directa del gen CDH1, en la cual se dentificó una mutación sin sentido (non-sense) en la posición 1913 G>A (W638X) del exón 12. Conclusión: la recolección detallada de los antecedentes familiares permitió sospechar una entidad hereditaria muy poco frecuente. Los estudios moleculares confirmaron el diagnóstico, lo que posibilitará la estimación del riesgo individual en los familiares consanguíneos.
Introduction: HDGC is a hereditary cancer syndrome with an autosomic dominant pattern. It may be clinically diagnosed by family background, and confirmed by genetic testing. In 40% of the families, a mutation in the CDH1 gene (E-cadherin) can be identified. Furthermore, the identification of the pathogenic mutation enables the segregate non-carriers (having population risk) and carriers. Prevention for the latter group includes prophylactic gastrectomy or surveillance endoscopy every 6 to 12 months. Objective: to present the case of an HDGC family with identified CDH1 mutation. CASE: 28 yearold woman who underwent gastrectomy for a diffuse ype gastric cancer. Her family background showed multiple gastric cancers with inherited autosomaldominant pattern (affectation of 9 members in 5 generations). Suspecting HDGC, a plan of surveillance endoscopy was iniciated, and a her DNA sample was sequenced for CDH1 gene finding a non-sense mutation in position 1913 G>A (W638X) of exon 12. Conclusion: the detailed recollection of the family background allowed to identify a rare inherited entity. The molecular testing confirmed the diagnosis and will allow future tailored counselling among relatives.