Clinical Subtypes and Molecular Characteristics of Serrated Polyposis Syndrome
Por:
Guarinos C, Sanchez-Fortun, C, Rodriguez M, Perez L, Egoavil C, Juarez M, Serradesanferm, A, Bujanda, L, Fernandez-Banares, F, Cubiella, J, De-Castro, L, Guerra, A, Aguirre, E, Herreros-De-Tejada, A, Bessa, X, Herraiz, M, Marin-Gabriel, J, Balmana, J, Cuatrecasas, M, Balaguer, F, Castells, A, Soto J, Alenda C, Paya, A and Jover R
Publicada:
1 jun 2013
Resumen:
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.
Filiaciones:
Guarinos C:
Gen Hosp Univ Alicante, Unidad Invest, Alicante 03010, Spain
Sanchez-Fortun, C:
Gen Hosp Univ Alicante, Unidad Gastroenterol, Alicante 03010, Spain
Rodriguez M:
Gen Hosp Univ Alicante, Unidad Invest, Alicante 03010, Spain
Gen Hosp Univ Alicante, Unidad Gastroenterol, Alicante 03010, Spain
Perez L:
Gen Hosp Univ Alicante, Unidad Invest, Alicante 03010, Spain
Egoavil C:
Gen Hosp Univ Alicante, Dept Pathol, Alicante 03010, Spain
Juarez M:
Gen Hosp Univ Alicante, Unidad Invest, Alicante 03010, Spain
Serradesanferm, A:
Hosp Clin Barcelona, Inst Malat Digest & Metabl, CIBERehd, Barcelona, Spain
Bujanda, L:
Univ Basque Country, CIBERehd, Hosp Donostia, Dept Gastroenterol, San Sebastian, Spain
Fernandez-Banares, F:
Hosp Mutua Terrassa, Dept Gastroenterol, Terrassa, Spain
Cubiella, J:
Complexo Hosp Univ Ourense, Dept Gastroenterol, Orense, Spain
De-Castro, L:
Complexo Hosp Vigo, Dept Gastroenterol, Vigo, Spain
Guerra, A:
Complejo Hosp Navarra, Dept Gastroenterol, Pamplona, Spain
Aguirre, E:
Hosp Arnau Vilanova, Dept Oncol, Lleida, Spain
Herreros-De-Tejada, A:
Hosp Puerta de Hierro, Dept Gastroenterol, Madrid, Spain
Bessa, X:
Hosp Mar, Dept Gastroenterol, Barcelona, Spain
Herraiz, M:
Univ Navarra Clin, Dept Gastroenterol, Pamplona, Spain
Marin-Gabriel, J:
Hosp 12 Octubre, Dept Gastroenterol, E-28041 Madrid, Spain
Balmana, J:
Hosp Gen Valle Hebron, Dept Oncol, Barcelona, Spain
Cuatrecasas, M:
Hosp Clin Barcelona, Dept Pathol, Barcelona, Spain
Balaguer, F:
Hosp Clin Barcelona, Inst Malat Digest & Metabl, CIBERehd, Barcelona, Spain
Castells, A:
Hosp Clin Barcelona, Inst Malat Digest & Metabl, CIBERehd, Barcelona, Spain
Soto J:
Univ Elche, Gen Hosp, Unidad Invest, Elche, Spain
Alenda C:
Gen Hosp Univ Alicante, Dept Pathol, Alicante 03010, Spain
Paya, A:
Gen Hosp Univ Alicante, Dept Pathol, Alicante 03010, Spain
Jover R:
Gen Hosp Univ Alicante, Unidad Invest, Alicante 03010, Spain
Gen Hosp Univ Alicante, Unidad Gastroenterol, Alicante 03010, Spain
|