ABSTRACT
Introduction: Over 90% of the patients with familial adenomatous polyposis (FAP) will develop duodenal adenomas. Aim: The aim of this study was to evaluate the effectiveness and safety of endoscopic excision of large duodenal adenomas in FAP patients. Methods: All FAP patients from a familial risk clinic submitted to endoscopic therapy for duodenal adenomas ≥10 mm between January 2010 and February 2021 were included. Results: From 151 FAP families, 22 patients (50 lesions) were included: 54.5% female; median follow-up 8.5 (IQR: 5.8-12.3) years after the first endoscopy. First therapeutic endoscopy occurred at a median age of 41.0 years (IQR: 33.0-58.2). Repeat therapeutic endoscopy was required in 54.5% of patients. Median size of the largest adenoma was 15 mm (IQR: 10-18 mm); resection was piecemeal in 63.1% and en bloc in the remaining. In 2 cases, the resection was incomplete (fibrosis due to previous resection and difficult positioning). Complications occurred in 6.3% of the resected lesions (4 patients): 2 immediate (bleeding, perforation); 4 in the first week (1 bleeding, 2 mild pancreatitis, 1 perforation requiring surgery; the latter two after ampullectomy). Histology revealed low-grade dysplasia adenomas in 90.1%; no adenocarcinomas were found. One patient with Spigelman stage IV disease not amenable to endoscopic control underwent elective duodenopancreatectomy (without duodenal cancer). Conclusion: Endoscopic surveillance and treatment of duodenal adenomas in FAP patients was safe and effective in the prevention of duodenal cancer.
Introdução: Mais de 90% dos doentes com Polipose Adenomatosa Familiar (PAF) desenvolvem adenomas duodenais. Objetivo: Avaliar a eficacia e seguranca da excisao endoscopica de adenomas duodenais em doentes com PAF. Métodos: Incluidos todos os doentes com PAF submetidos a terapeutica endoscopica de adenomas duodenais ≥10 mm entre janeiro/2010-fevereiro/2021. Resultados: Em 151 familias com PAF, incluidos 22 doentes (50 lesoes): 54.5% mulheres; mediana do follow-up 12.3 (IQR: 6.019.0) anos. Primeira endoscopia terapeutica (ressecao de polipos duodenais ≥10 mm) ocorreu numa mediana de idades 41.0 (IQR: 33.058.2) anos. Em 54.5% dos casos, foi necessaria uma nova endoscopia terapeutica. Dimensao mediana do maior adenoma: 15 mm (IQR: 1018 mm); ressecao realizada em piecemeal em 63.1% e em bloco nos restantes. Em dois casos, a ressecao endoscopica foi incompleta (fibrose em local de ressecao previa:1; posicionamento: 1). Complicacoes em 6.3% das lesoes ressecadas (4 doentes): 2 imediatas (hemorragia e perfuracao, manejadas endoscopicamente); 4 na primeira semana (1 hemorragia controlada endoscopicamente, 2 pancreatites ligeiras tratadas conservadoramente, 1 perfuracao com necessidade de cirurgia; as duas ultimas apos ampulectomia). A avaliacao histologica revelou adenomas com displasia de baixo grau em 90.1%; nenhum adenocarcinoma. Um doente com doenca Spigelman IV nao controlavel endoscopicamente realizou duodenopancreatectomia (sem cancro). Conclusão: A vigilancia e tratamento endoscopicos de adenomas duodenais em doentes com PAF revelaram-se seguros e eficazes na prevencao de cancro duodenal.
ABSTRACT
Recognition of a hereditary colorectal cancer (CRC) syndrome is crucial and Lynch Syndrome (LS) is the most frequent immunohistochemistry (IHC)-screening for mismatch repair proteins (MMR) deficiency in CRC is therefore advocated. An unicentric cohort study was conducted in a central Oncological Hospital to assess its results. All patients under 70 years-old admitted between July 2017-June 2019 and submitted to surgery for CRC were included. Of 275 patients, 56.0% were male, median age 61.0 (IQR:54.5-65.0), with synchronous tumors in six. Histology revealed high grade adenocarcinoma in 8.4%; mucinous and/or signet ring differentiation in 11.3%; and lymphocytic infiltration in 29.8%. Amsterdam (AC) and Bethesda (BC) Criteria were fulfilled in 11 and 74 patients, respectively. IHC revealed loss of expression of MMR proteins in 24 (8.7%), mostly MLH1 and PMS2 (n = 15) and PMS2 (n = 4). Among these, no patients fulfilled AC and 13 fulfilled BC. BRAF mutation or MLH1 promoter hypermethylation was found in four patients with MLH1 loss of expression. Genetic diagnosis was performed in 51 patients, 11 of them with altered IHC. LS was diagnosed in four, and BC was present in three. One patient would not have been diagnosed without routine IHC screening. These results strengthen the important role of IHC screening for MMR proteins loss of expression in CRC.
