title: [Coexistence of Peutz-Jeghers' syndrome and Lynch's syndrome in the same patient].
abstract: Peutz-Jeghers' syndrome is an uncommon polyposis syndrome characterized by the presence of hamartomatous polyps in the gastrointestinal tract and mucocutaneous pigmentation (especially in the oral-nasal and perianal areas and hands and feet). Inheritance is autosomal dominant, caused by a germline mutation in the STK11 (LKB1) gene. The risk of breast and gastrointestinal cancer is increased in this syndrome. Lynch's syndrome is also known as hereditary non-polyposis colorectal cancer. This syndrome is caused by a mutation in DNA mismatch repair genes and increases the risk of colon and endometrial cancer, as well as that of other neoplasms (ovary, upper urological tract, gastric, small intestine, pancreas, skin and brain). We present the case of a young woman with colorectal cancer and the coexistence of both syndromes. This association has not previously been reported in the literature.
authors.affiliation: Servicio de Aparato Digestivo Complejo Hospitalario Torrecárdenas, Almería, España. evamartinezamate@hotmail.com
authors.forename: Eva
authors.initials: E
authors.lastname: Martínez Amate
authors.forename: Rocío
authors.initials: R
authors.lastname: Carreño González
authors.forename: Jaime
authors.initials: J
authors.lastname: Jorge Cerrudo
authors.forename: Juan
authors.initials: J
authors.lastname: Esteban Carretero
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000230:Adenocarcinoma / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D000328:Adult; D003110:Colonic Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D003111:Colonic Polyps / Q000235:genetics; D003113:Colonoscopy; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000150:complications* / Q000235:genetics; D004273:DNA, Neoplasm / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D007415:Intestinal Obstruction / Q000209:etiology; D007579:Jejunal Diseases / Q000150:complications / Q000235:genetics; D008548:Melanosis / Q000235:genetics; D053842:Microsatellite Instability; D000070957:MutL Protein Homolog 1; D020125:Mutation, Missense; D009687:Nuclear Proteins / Q000235:genetics*; D010580:Peutz-Jeghers Syndrome / Q000150:complications* / Q000235:genetics; D010641:Phenotype
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D004273:DNA, Neoplasm; C501486:MLH1 protein, human; D009687:Nuclear Proteins; D000070957:MutL Protein Homolog 1