Neurofibromatoses: pathomorphological and clinical polymorphism, efficacy of targeted therapy

Abstract

Neurofibromatoses are a group of inherited monogenic diseases with variable expression, characterized by the development of multiple tumors in tissues of neuroectodermal origin. Despite the similarity of phenotypic manifestations, each form differs in the spectrum of clinical manifestations, onset age of the first symptoms, severity of course, and approaches to treatment, the results of which are reflected in the prognosis and patients’ quality of life. The article analyzes the data from domestic and foreign studies on various forms of neurofibromatosis. The diagnostic criteria, pathogenesis, molecular considerations, and clinical manifestations, as well as treatment, including the example of 2 own clinical observations are discussed in this article.