Open AccessThe first experience of using MEK inhibitors for type 1 neurofibromatosis in children in the Russian Federation in a hospital for short-term treatment at the National Medical Research Center
Author(s) -
Н. М. Ершов,
А. В. Пшонкин,
Ю. М. Мареева,
Л. А. Ясько,
М В Курникова,
Д. А. Евстратов,
Д. А. Гобадзе,
Л. А. Папуша,
Г. С. Овсянникова,
А. Г. Румянцев
Publication year - 2021
Publication title -
rossijskij žurnal detskoj gematologii i onkologii
Language(s) - English
Resource type - Journals
eISSN - 2413-5496
pISSN - 2311-1267
DOI - 10.21682/2311-1267-2021-8-1-85-92
Subject(s) - neurofibromatosis , medicine , trametinib , quality of life (healthcare) , disease , neurofibromatoses , clinical trial , genetic disorder , oncology , neurofibromatosis type 2 , bioinformatics , cancer research , mapk/erk pathway , pathology , biology , signal transduction , genetics , nursing
Neurofibromatosis is a genetic disorder that affects the bones, soft tissues, skin, and the nervous system. Neurofibromatosis has been described in 1882, however, there is still no specific treatment for this disease and no treatment protocols for the most frequent and life-threatening complications such as non-malignant tumors deriving from the cells of the peripheral nerve sheaths. Progress in molecular genetic study discovered the underlying genetic alteration in this tumor. This knowledge provides the base for clinical trials with new drugs. MEK-inhibitors are acting on the RAS-MAPK signaling pathway and have shown their efficacy in decreasing the size of inoperable tumors in children with type 1 neurofibromatosis (NF1). Although, this therapy does not completely reduce the tumor volume, it can significantly improve the quality of life. This article presents a clinical case of the trametinib efficacy in a child suffering from NF1-associated plexiform neurofibromas.