RESUMO
OBJECTIVE: The purpose of this study was the clinical and pathological characterisation of a new autosomal dominant gastric polyposis syndrome, gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). METHODS: Case series were examined, documenting GAPPS in three families from Australia, the USA and Canada. The affected families were identified through referral to centralised clinical genetics centres. RESULTS: The report identifies the clinical and pathological features of this syndrome, including the predominant dysplastic fundic gland polyp histology, the exclusive involvement of the gastric body and fundus, the apparent inverse association with current Helicobacter pylori infection and the autosomal dominant mode of inheritance. CONCLUSIONS: GAPPS is a unique gastric polyposis syndrome with a significant risk of gastric adenocarcinoma. It is characterised by the autosomal dominant transmission of fundic gland polyposis, including areas of dysplasia or intestinal-type gastric adenocarcinoma, restricted to the proximal stomach, and with no evidence of colorectal or duodenal polyposis or other heritable gastrointestinal cancer syndromes.
Assuntos
Adenocarcinoma/diagnóstico , Síndromes Neoplásicas Hereditárias/diagnóstico , Pólipos/diagnóstico , Neoplasias Gástricas/diagnóstico , Adenocarcinoma/genética , Adenocarcinoma/microbiologia , Adenocarcinoma/patologia , Adolescente , Adulto , Idoso , Criança , Feminino , Genes Dominantes , Infecções por Helicobacter/complicações , Helicobacter pylori/isolamento & purificação , Humanos , Masculino , Pessoa de Meia-Idade , Síndromes Neoplásicas Hereditárias/genética , Síndromes Neoplásicas Hereditárias/microbiologia , Síndromes Neoplásicas Hereditárias/patologia , Linhagem , Pólipos/genética , Pólipos/patologia , Neoplasias Gástricas/genética , Neoplasias Gástricas/microbiologia , Neoplasias Gástricas/patologiaRESUMO
BACKGROUND: Diagnostic and therapeutic endoscopic retrograde cholangiopancreatography (ERCP) has been practised widely over the last 20 years, and it has revolutionized the diagnosis and management of biliary and pancreatic conditions. More recently newer techniques (magnetic resonance imaging) for diagnosis and therapy (laparoscopic biliary surgery) have evolved. The present paper evaluates the risks of ERCP procedures in a modern setting. METHODS: A prospective audit of all ERCP carried out by a single unit across two campuses over 12 months was undertaken. All procedures were included and predetermined morbidity criteria were recorded and evaluated by independent observers who did not perform the procedures. RESULTS: During this period 372 procedures were performed. A total of 9.4% of procedures failed to achieve the preprocedure-stated goal. There were five deaths (30-day mortality of 1.3%) and in 16 patients complications were recorded (morbidity of 4.3%). Two clinical and two technical factors were shown to be associated with the morbidity and mortality by multiple logistic regression analysis: diagnosis of sphincter of Oddi dysfunction; presence of jaundice; need to perform percutaneous transhepatic drainage of an obstructed biliary system after a failed endoscopic approach; and multiple ERCP. CONCLUSIONS: These results compare favourably with results from other reported series and serve to illustrate the relative safety of diagnostic and therapeutic ERCP.
