Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 2 de 2
Filtrar
Mais filtros

Base de dados
Ano de publicação
Tipo de documento
Intervalo de ano de publicação
1.
Mod Pathol ; 32(12): 1814-1822, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31273317

RESUMO

Most patients with Cowden syndrome have lesions in the gastrointestinal tract, characterized by multiple polyps of various histologic types in the large bowel, polyps in the upper gastrointestinal tract, and esophageal glycogenic acanthosis. However, pathologists are often unaware of the distinctive polyposis phenotype of Cowden syndrome. In this multicenter study, we report the spectrum of gastrointestinal manifestations in a series of 43 Cowden syndrome patients who had at least one endoscopy. The median age at the first endoscopy was 46 years and 58% were women. In 24 of 29 (83%) tested patients, a pathogenic germline mutation in PTEN was identified. The histology from 199 endoscopy procedures (67 upper gastrointestinal endoscopy and 132 colonoscopies) was reviewed. Hamartomatous polyps of the large bowel were the most common lesions, present in 85% of patients. Hamartomatous polyps showed varied histology, including lymphoid aggregates in 55% of patients, a lipomatous component in 52%, a ganglioneuromatous component in 52%, and a fibrous-rich component in 14%. Polyps with at least two different stromal components were found in 55% of patients. Inflammatory polyps were present in 21% of patients. Conventional adenomas and serrated polyps were identified in 48% and 62% of patients, respectively. In the upper gastrointestinal tract, the most common lesions were esophageal glycogenic acanthosis (37%), gastric hamartomatous polyps (47%), and duodenal hamartomatous polyps (20%). All patients with glycogenic acanthosis who had a colonoscopy had hamartomatous polyps of the large bowel. In five patients, the diagnosis of Cowden syndrome was established after the pathology report raised suspicion for the diagnosis. Pathologists who are aware of the characteristic admixture of lesions in Cowden syndrome can play an essential role in recommending referral to genetic counseling and gene testing. Early diagnosis of Cowden syndrome is important, as these patients and their relatives are at increased risk for developing multiple cancers.


Assuntos
Trato Gastrointestinal/patologia , Síndrome do Hamartoma Múltiplo/patologia , Adolescente , Adulto , Idoso , Estudos de Coortes , Feminino , Humanos , Pólipos Intestinais/etiologia , Pólipos Intestinais/patologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
2.
Parkinsonism Relat Disord ; 91: 83-84, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34543852

RESUMO

In response to the report of Ong and colleagues of a series of patients with levodopa/dopa decarboxylase inhibitor associated microscopic colitis, we report a case of entacapone associated microscopic colitis. We agree that chronic diarrhoea in patients with Parkinson's disease should prompt consideration of drug-induced microscopic colitis as the cause.


Assuntos
Colite Linfocítica , Doença de Parkinson , Antiparkinsonianos/efeitos adversos , Catecóis/efeitos adversos , Inibidores Enzimáticos , Humanos , Levodopa/efeitos adversos , Nitrilas , Doença de Parkinson/complicações , Doença de Parkinson/tratamento farmacológico
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA