DIAGNOSTIC DIFFICULTIES IN MutYH-ASSOCIATED POLYPOSIS (case report)
https://doi.org/10.33878/2073-7556-2020-19-1-107-116
Abstract
MutYH-associated polyposis (MAP) is hereditary syndrome with autosomal recessive inheritance, caused by biallelic mutation in MutYH gene and characterized by presence of multiple (20 and more) polyps in the bowel and increased life-time risk of colorectal cancer. At the same time finding 2 heterozygous mutations in MutYH gene (by Sanger method) doesn`t mean the diagnosis of MAP because of need to confirm their biallelic location. This case-report demonstrates difficulties in diagnostic of MAP caused by inability to investigate parent DNA samples and our options for solution of this problem.
About the Authors
A. S. Tsukanov
Ryzhikh National Medical Research Centre for Coloproctology of the Ministry of Health of Russia
Russian Federation
Salyama Adilya str., 2, Moscow, 123423
Russian Federation
Salyama Adilya str., 2, Moscow, 123423
D. Yu. Pikunov
Ryzhikh National Medical Research Centre for Coloproctology of the Ministry of Health of Russia; Russian Medical Academy of Continuing Professional Education of the Ministry of Healthcare of Russia
Russian Federation
Moscow
Russian Federation
Moscow
M. Kh. Toboeva
Ryzhikh National Medical Research Centre for Coloproctology of the Ministry of Health of Russia; Russian Medical Academy of Continuing Professional Education of the Ministry of Healthcare of Russia
Russian Federation
Moscow
Russian Federation
Moscow
A. M. Kuzminov
Ryzhikh National Medical Research Centre for Coloproctology of the Ministry of Health of Russia
Russian Federation
Moscow
Russian Federation
Moscow
O. A. Majnovskaya
Ryzhikh National Medical Research Centre for Coloproctology of the Ministry of Health of Russia
Russian Federation
Moscow
Russian Federation
Moscow
V. N. Kashnikov
Ryzhikh National Medical Research Centre for Coloproctology of the Ministry of Health of Russia
Russian Federation
Moscow
Russian Federation
Moscow
V. P. Shubin
Ryzhikh National Medical Research Centre for Coloproctology of the Ministry of Health of Russia
Russian Federation
Moscow
Russian Federation
Moscow
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Review
For citations:
Tsukanov A.S., Pikunov D.Yu., Toboeva M.Kh., Kuzminov A.M., Majnovskaya O.A., Kashnikov V.N., Shubin V.P. DIAGNOSTIC DIFFICULTIES IN MutYH-ASSOCIATED POLYPOSIS (case report). Koloproktologia. 2020;19(1):107-116. https://doi.org/10.33878/2073-7556-2020-19-1-107-116
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