Experience with selumetinib in a patient with neurofibromatosis type 1 and inoperable pelvic plexiform neurofibroma: a case report

Donyush E.K., Zhironkina A.B.

Russian Children’s Clinical Hospital – Branch of the Pirogov Russian National Research Medical University, Moscow, Russia

Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder with tumor syndrome associated with mutations in the NF1 gene. It manifests early in life and progresses throughout life. Plexiform neurofibromas (PN) are present in 30–50% of patients with NF1. They cause nerve dysfunction and bone destruction, impede normal growth and development in the affected area, and lead to chronic pain and significant cosmetic defects. Surgical removal of pelvic NF can be associated with a high risk of death, frequent postoperative recurrences, and in some cases, is impossible. Selumetinib, an oral, highly selective MEK1/2 inhibitor, was approved by the FDA in 2020 and registered in Russia in 2021 for monotherapy for symptomatic, inoperable PN in pediatric patients with NF1 over 3 years of age. It can reduce the volume or stabilize the growth of PN, reduce the incidence of internal organ complications, and significantly improve patients’ quality of life. This publication presents a clinical case of a patient with inoperable pelvic PN who received targeted therapy with selumetinib, which resulted in a positive outcome.

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About the Authors

E.K. Donyush, Cand. Sci. (Med.), Associate Professor, Head of the Hematology and Chemotherapy Department No. 3, Russian Children’s Clinical Hospital – Branch of the Pirogov Russian National Research Medical University, Moscow, Russia; donyush_e_k@rdkb.ru, ORCID: http://orcid.org/0000-0002-4252-8829 (corresponding author)
A.B. Zhironkina, Hematologist, Hematology and Chemotherapy Department No. 3, Russian Children’s Clinical Hospital – Branch of the Pirogov Russian National Research Medical University, Moscow, Russia; zhironkina_anna00@mail.ru, ORCID: http://orcid.org/0009-0006-9342-5527

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