Familial adenomatous polyposis associated with malignancy
https://doi.org/10.31146/2415-7813-endo-63-2-46-52
Abstract
Background Familial adenomatous polyposis (FAP) is a rare genetic disorder that is inherited in an autosomal dominant fashion. This disease is caused by a germline mutation in the APC gene, but in 20-30% of cases the disease occurs due to de novo mutations. There are several forms of the disease from severe, which is characterized by a pronounced number of polyps throughout the gastrointestinal tract (GIT) to a mild (attenuated) form of FAP, with less than 100 colonic polyps. According to various scientific literature, the risk of malignancy of epithelial formations reaches 100%. Identified epithelial formations of the gastrointestinal tract will lie down for endoscopic or surgical treatment. FAP is also characterized by neoplasms of extraintestinal localization, which characterizes it as a multisystem syndrome. There is a high risk of developing congenital retinal pigment epithelium hypertrophy, bone osteoma, fibroma, angiofibroma of the nose, thyroid carcinoma, hepatoblastoma, brain tumor and pancreatic tumor. Congenital retinal hypertrophy is the earliest extraintestinal manifestation of FAP. Thyroid cancer in young people, as a rule, is diagnosed first and serves as the basis for a comprehensive endoscopic diagnosis of the gastrointestinal tract. We present a rare case of FAP in a 14-year-old child associated with malignant neoplasms of extraintestinal localizations.
About the Authors
E. V. Sharapova
Federal State Budgetary Institution «N.N. Blokhin National Medical Research Center of Oncology» of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
V. V. Semenova
Federal State Budgetary Institution «N.N. Blokhin National Medical Research Center of Oncology» of the Ministry of Health of the Russian Federation; Engelhardt Institute of Molecular Biology, Russian Academy of Science; Dmitry Rogachev National Medical Research Center for Pediatric Hematology, Oncology and Immunology, Ministry of Health of Russia
Russian Federation
Russian Federation
T. V. Nasedkina
Engelhardt Institute of Molecular Biology, Russian Academy of Science
Russian Federation
Russian Federation
T. S. Belysheva
Federal State Budgetary Institution «N.N. Blokhin National Medical Research Center of Oncology» of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
S. N. Mikhailova
Federal State Budgetary Institution «N.N. Blokhin National Medical Research Center of Oncology» of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
O. A. Malikhova
Federal State Budgetary Institution «N.N. Blokhin National Medical Research Center of Oncology» of the Ministry of Health of the Russian Federation; Federal State Budgetary Educational Institution of Further Professional Education «Russian Medical Academy of Continuous Professional Education» of the Ministry of Healthcare of the Russian Federation
Russian Federation
Russian Federation
O. A. Gusarova
Federal State Budgetary Institution «N.N. Blokhin National Medical Research Center of Oncology» of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
V. V. Lozovaya
Federal State Budgetary Institution «N.N. Blokhin National Medical Research Center of Oncology» of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
A. . Tumanyan
Federal State Budgetary Institution «N.N. Blokhin National Medical Research Center of Oncology» of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
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Review
For citations:
Sharapova E.V., Semenova V.V., Nasedkina T.V., Belysheva T.S., Mikhailova S.N., Malikhova O.A., Gusarova O.A., Lozovaya V.V., Tumanyan A. Familial adenomatous polyposis associated with malignancy. Filin’s Clinical endoscopy. 2023;63(2):46-52. (In Russ.) https://doi.org/10.31146/2415-7813-endo-63-2-46-52
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