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Potentially actionable pathogenic genetic variants in PROS (PIK3CA-related overgrowth spectrum)
https://doi.org/10.25557/2073-7998.2024.07.24-32
Abstract
PROS (PIK3CA-related overgrowth spectrum) is a heterogeneous group of diseases characterized by tissue overgrowth, vascular malformations, and other malformations. The cause of these pathologic conditions is a somatic activating PIK3CA mutation that occurs during embryogenesis. The wide phenotypic diversity of the disease complicates clinical diagnosis, so molecular genetic testing has a crucial role in the diagnosis and the decision to prescribe the PI3Kα inhibitor alpelisib. In this study, among 80 patients with suspected PROS, a variant in PIK3CA was identified in 29 patients using high-throughput sequencing of a panel of cell growth regulator genes, their clinical and molecular genetic characterization is presented, and further prospects for the development of molecular genetic diagnosis of PROS are discussed.
Supporting agencies: The study was conducted with the financial support of Novartis Pharma.
About the Authors
E. V. Bychkova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Ekaterina V. Bychkova
1 Moskvorechie st., Moscow, 115522
N. A. Semenova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1 Moskvorechie st., Moscow, 115522
G. B. Sagoyan
National Medical Research Center of Oncology named after N.N. Blokhin of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
23 Kashirskoe shosse, Moscow, 115522
R. A. Khagurov
Children’s City Clinical Hospital named after N.F. Filatov of Moscow City Health Department
Russian Federation
Russian Federation
15 Sadovaya-Kudrinskaya sSt., Moscow, 123242
D. M. Guseva
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
A. S. Smirnov
Research Centre for Medical Genetics; N.I. Pirogov Russian National Research Medical University» of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
1 Moskvorechie st., Moscow, 115522
1 Ostrovityanova st., Moscow, 117513
V. V. Strelnikov
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1 Moskvorechie st., Moscow, 115522
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Review
For citations:
Bychkova E.V., Semenova N.A., Sagoyan G.B., Khagurov R.A., Guseva D.M., Volodin I.V., Smirnov A.S., Strelnikov V.V. Potentially actionable pathogenic genetic variants in PROS (PIK3CA-related overgrowth spectrum). Medical Genetics. 2024;23(7):24-32. (In Russ.) https://doi.org/10.25557/2073-7998.2024.07.24-32
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