Genesis of multiple tumors in a patient with a primary endometral adenocarcinoma
https://doi.org/10.25557/2073-7998.2023.08.52-62
Abstract
The number of cases with the description of primary multiple tumors is growing, however, reports of synchronous-metachronous neoplasms are extremely rare. Moreover, there is practically no genetic analysis of such tumors and possible ways of their progression in the literature. The purpose of this study was to establish the independence of the origin of multiple tumors in a patient with Lynch syndrome. A retrospective analysis of the material included both the study of the morphological features of tumors and the detection of mutational damage in the studied genes by whole exome sequencing of DNA isolated from available paraffin blocks. The combination of histological types and established mutational profiles of neoplasms confirms their independent origin. Thus, a new case of primary multiple tumors is presented and possible ways of their formation with the participation of congenital disorders of the DNA mismatch repair system are suggested.
Keywords
About the Authors
E. D. MirlinaRussian Federation
1, mkr. Orlova roshcha, Gatchina, Leningradskaya Oblast, 188300
A. D. Shakhmatova
Russian Federation
1, mkr. Orlova roshcha, Gatchina, Leningradskaya Oblast, 188300
D. N. Khmelkova
Russian Federation
3, bldg.1, Gubkina st., Moscow, 119333
Yu. V. Kil
Russian Federation
1, mkr. Orlova roshcha, Gatchina, Leningradskaya Oblast, 188300
S. S. Emelyanova
Russian Federation
1, mkr. Orlova roshcha, Gatchina, Leningradskaya Oblast, 188300
G. M. Butrovich
Russian Federation
1, mkr. Orlova roshcha, Gatchina, Leningradskaya Oblast, 188300
E. Y. Grinkova
Russian Federation
1, mkr. Orlova roshcha, Gatchina, Leningradskaya Oblast, 188300
I. V. Mironova
Russian Federation
3, bldg.1, Gubkina st., Moscow, 119333
V. S. Kaimonov
Russian Federation
3, bldg.1, Gubkina st., Moscow, 119333
I. L. Polyatskin
Russian Federation
68, Leningradskaya st., Pesochny, Saint Petersburg, 197758
A. S. Artemyeva
Russian Federation
68, Leningradskaya st., Pesochny, Saint Petersburg, 197758
A. V. Gulyaev
Russian Federation
68, Leningradskaya st., Pesochny, Saint Petersburg, 197758
14, Kirochnaya st., St. Petersburg, 191015
O. A. Vostrukhina
Russian Federation
1, mkr. Orlova roshcha, Gatchina, Leningradskaya Oblast, 188300
V. N. Verbenko
Russian Federation
Valery N. Verbenko
1, mkr. Orlova roshcha, Gatchina, Leningradskaya Oblast, 188300
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Review
For citations:
Mirlina E.D., Shakhmatova A.D., Khmelkova D.N., Kil Yu.V., Emelyanova S.S., Butrovich G.M., Grinkova E.Y., Mironova I.V., Kaimonov V.S., Polyatskin I.L., Artemyeva A.S., Gulyaev A.V., Vostrukhina O.A., Verbenko V.N. Genesis of multiple tumors in a patient with a primary endometral adenocarcinoma. Medical Genetics. 2023;22(8):52-62. (In Russ.) https://doi.org/10.25557/2073-7998.2023.08.52-62