[Coexistence of Peutz-Jeghers' syndrome and Lynch's syndrome in the same patient]
| Autor: | Eva, Martínez Amate, Rocío, Carreño González, Jaime, Jorge Cerrudo, Juan, Esteban Carretero |
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| Rok vydání: | 2011 |
| Předmět: |
Adult
Genotype Mutation Missense Peutz-Jeghers Syndrome Colonic Polyps Nuclear Proteins Colonoscopy DNA Neoplasm Exons Jejunal Diseases Adenocarcinoma Colorectal Neoplasms Hereditary Nonpolyposis Melanosis Phenotype Colonic Neoplasms Humans Female Microsatellite Instability MutL Protein Homolog 1 Intestinal Obstruction Adaptor Proteins Signal Transducing |
| Zdroj: | Gastroenterologia y hepatologia. 35(6) |
| ISSN: | 0210-5705 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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