Clinical Subtypes and Molecular Characteristics of Serrated Polyposis Syndrome
| Autor: | Luísa Castro, Miriam Cuatrecasas, Elena Aguirre, Judith Balmaña, Fernando Fernández Bañares, María Rodríguez Soler, Alberto Herreros de Tejada, Artemio Payá, Anna Serradesanferm, Joaquín Cubiella, Xavier Bessa, Cristina Alenda, Francesc Balaguer, Carla Guarinos, Cecilia Egoavil, Luis Bujanda, Rodrigo Jover, Miriam Juárez, José Luis Soto, Antoni Castells, Ana Guerra, Cristina Sánchez–Fortún, José Carlos Marín Gabriel, Maite Herraiz, Lucía Pérez–Carbonell |
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| Rok vydání: | 2013 |
| Předmět: |
Adult
Male Proto-Oncogene Proteins B-raf Molecular Markers medicine.medical_specialty endocrine system diseases Colorectal cancer education medicine.disease_cause Gastroenterology Polymerase Chain Reaction Proto-Oncogene Proteins p21(ras) Internal medicine Proto-Oncogene Proteins medicine otorhinolaryngologic diseases Humans Hypermethylation neoplasms Aged Mutation Polymorphism Genetic Hepatology CpG Island Methylator Phenotype business.industry Serrated Polyps Hyperplastic Polyps Sequence Analysis DNA DNA Methylation Middle Aged medicine.disease Phenotype digestive system diseases Hyperplastic Polyp CpG site Adenomatous Polyposis Coli ras Proteins CpG Islands Female KRAS business Body mass index |
| Zdroj: | CLINICAL GASTROENTEROLOGY AND HEPATOLOGY r-FISABIO. Repositorio Institucional de Producción Científica instname r-FISABIO: Repositorio Institucional de Producción Científica Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO) r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante |
| ISSN: | 1542-7714 |
| Popis: | Background & Aims We investigated clinical and molecular differences between the different phenotypes of serrated polyposis syndrome (SPS) and the frequency of mutations in BRAF or KRAS in polyps from patients with SPS. Methods We collected data on clinical and demographic characteristics of 50 patients who fulfilled the criteria for SPS. Polymerase chain reaction and sequence analysis were used to identify BRAF and KRAS mutations in 432 polyps collected from 37 patients; we analyzed CpG island methylator phenotypes in 272 of these polyps. Results Fifteen patients (30%) had type 1 SPS and 35 had type 2 SPS. There were no significant differences in age at diagnosis, sex, smoking frequency, body mass index, or colorectal cancer predisposition between groups of patients, or in the pathologic or molecular characteristics of their polyps. A familial history of colorectal cancer or colonic polyps was reported more frequently by patients with type 2 SPS. BRAF mutations were found in 63% of polyps and KRAS mutations were found in 9.9%; 43.4% of polyps had the CpG island methylator phenotype–high phenotype. A per-patient analysis revealed that all patients had a BRAF or KRAS mutation in more than 25% of their polyps; 84.8% of patients had a mutation in BRAF or KRAS in more than 50% of their polyps. Conclusions Except for a greater likelihood of familial history of colorectal cancer or colonic polyps in patients with type 2 SPS, we found no significant demographic, pathologic, or molecular differences between types 1 and 2 SPS. All patients had a BRAF or KRAS mutation in at least 25% of their polyps. |
| Databáze: | OpenAIRE |
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