Gastroenterologia y hepatologia · 2012
[Coexistence of Peutz-Jeghers' syndrome and Lynch's syndrome in the same patient].
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Martínez Amate Eva, Carreño González Rocío, Jorge Cerrudo Jaime, Esteban Carretero Juan
Аннотация
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.
Предметные рубрики MeSH
Adaptor Proteins, Signal TransducingAdenocarcinomaAdultColonic NeoplasmsColonic PolypsColonoscopyColorectal Neoplasms, Hereditary NonpolyposisDNA, NeoplasmExonsFemaleGenotypeHumansIntestinal ObstructionJejunal DiseasesMelanosisMicrosatellite InstabilityMutL Protein Homolog 1Mutation, MissenseNuclear ProteinsPeutz-Jeghers SyndromePhenotype