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Diagnostic aspects in the patients with mosaic form of hereditary cancer syndromes
https://doi.org/10.25557/2073-7998.2025.10.111-113
Abstract
The mosaic form of hereditary tumor syndromes (HTS) often was not timely diagnosed due to a small percentage of the mutant allele in the blood DNA. We have described a modern algorithm for genetic laboratory diagnostics of HTS using examples of a patients with von Hippel-Lindau syndrome and retinoblastoma, which included the analysis of available primary tumors and verification of the identified pathogenic variant in blood by deep targeted sequencing.
Supporting agencies: The research was carried out within the state assignment of Ministry of Science and Higher Education of the Russian Federation for RCMG
About the Authors
D. S. Mikhaylenko
Research Centre for Medical Genetics ; I.M. Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522
8, Trubetskaya st., Moscow, 119991
E. A. Alekseeva
Research Centre for Medical Genetics ; I.M. Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522
8, Trubetskaya st., Moscow, 119991
N. B. Kuryakova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522
O. V. Babenko
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522
E. B. Kuznetsova
Research Centre for Medical Genetics ; I.M. Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522
8, Trubetskaya st., Moscow, 119991
A. V. Efremova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522
I. V. Volodin
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522
V. V. Musatova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522
D. V. Zaletaev
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522
V. V. Strelnikov
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115522
References
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2. Mikhailenko D.S., Shchagina O.A., Tyulpakov A.N., et al. Molekulyarnogeneticheskaya diagnostika sindroma Khippelya-Lindau. Uchebnometodicheskoye posobiye [Molecular genetic diagnostics of von HippelLindau syndrome. Study guide]. M.: Izd-vo «Triumf» [Moscow: Triumph Publishing House], 2021. – 44 p. (In Russ.)
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Review
For citations:
Mikhaylenko D.S., Alekseeva E.A., Kuryakova N.B., Babenko O.V., Kuznetsova E.B., Efremova A.V., Volodin I.V., Musatova V.V., Zaletaev D.V., Strelnikov V.V. Diagnostic aspects in the patients with mosaic form of hereditary cancer syndromes. Medical Genetics. 2025;24(10):111-113. (In Russ.) https://doi.org/10.25557/2073-7998.2025.10.111-113
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