НОВООБРАЗОВАНИЯ У ДЕТЕЙ С СИНДРОМОМ КОСТЕЛЛО: ОПЫТ РОССИЙСКОЙ ДЕТСКОЙ КЛИНИЧЕСКОЙ БОЛЬНИЦЫ

Abstract

Costello Syndrome is an extremely rare genetic disorder caused by a mutation in the HRAS gene that encodes for a highly active protein that in its turn affects the cell growth and division. Patients have a unique phenotype and multiple developmental abnormalities that suggest the anomaly from the first days of life. The important feature of the disease is a predisposition to the development of neoplasms, both benign and malignant. This fact must obligatory be taken into consideration by physicians who are treating children with Costello Syndrome. Authors present the three clinical cases of children with Costello Syndrome coupled with neoplasms who underwent treatment at the Department of Surgical Treatment Methods of Oncology with the Russian Children's Clinical Hospital with the Pirogov Russian National Research Medical University of the Ministry of Healthcare of Russia (Moscow, Russia). The Authors’ experience in treating these patients, including a risk-adapted approach to therapy and early removal of detected formations, can be considered successful as yet. The descriptions of these clinical cases are of scientific and practical interest not only for pediatric oncologists but also for pediatricians, neurologists, cardiologists and other specialists due to the rarity of Costello Syndrome as they contribute to the formation of oncological vigilance.