Colorectal cancer risk in hamartomatous polyposis syndromes

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art_CAMPOS_Colorectal_cancer_risk_in_hamartomatous_polyposis_syndromes_2015.PDF (1.39 MB)
Citações na Scopus
Tipo de produção
article
Data de publicação
2015
DOI
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
BAISHIDENG PUBLISHING GROUP INC
Autores
MARTINEZ, Carlos Augusto Real
Citação
WORLD JOURNAL OF GASTROINTESTINAL SURGERY, v.7, n.3, p.25-32, 2015
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
Colorectal cancer (CRC) is a major cause of morbidity and mortality around the world, and approximately 5% of them develop in a context of inherited mutations leading to some form of familial colon cancer syndromes. Recognition and characterization of these patients have contributed to elucidate the genetic basis of CRC. Polyposis Syndromes may be categorized by the predominant histological structure found within the polyps. The aim of the present paper is to review the most important clinical features of the Hamartomatous Polyposis Syndromes, a rare group of genetic disorders formed by the peutz-Jeghers syndrome, juvenil polyposis syndrome and PTEN Hamartoma Tumor Syndrome (Bannayan-Riley-Ruvalacaba and Cowden Syndromes). A literature search was performed in order to retrieve the most recent and important papers (articles, reviews, clinical cases and clinical guidelines) regarding the studied subject. We searched for terms such as ""hamartomatous polyposis syndromes"", ""Peutz-Jeghers syndrome"", ""juvenile polyposis syndrome"", ""juvenile polyp"", and ""PTEN hamartoma tumour syndrome"" (Cowden syndrome, Bananyan-Riley-Ruvalcaba). The present article reports the wide spectrum of disease severity and extraintestinal manifestations, with a special focus on their potential to develop colorectal and other neoplasia. In the literature, the reported colorectal cancer risk for Juvenile Polyposis, Peutz-Jeghers and PTEN Hamartoma Tumor Syndromes are 39%-68%, 39%-57% and 18%, respectively. A review regarding cancer surveillance recommendations is also presented.
Palavras-chave
Hereditary GI cancer syndromes, Peutz-Jeghers, Juvenile polyposis, Cowden syndrome, PTEN tumor
URI
https://observatorio.fm.usp.br/handle/OPI/12524
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Coleções
Artigos e Materiais de Revistas Científicas - HC/ICHC