Shedding New Light: Novel Therapies for Common Disorders in Children with Neurofibromatosis Type I.

Abstract

Neurofibromatosis type I (NF1) is a common dominantly inherited disorder, and one of the most common of the RASopathies. Most individuals with NF1 develop plexiform neurofibromas and cutaneous neurofibromas, nerve tumors caused by NF1 loss of function in Schwann cells. Cell culture models and mouse models of NF1 are being used to test drug efficacy in preclinical trials, which led to Food and Drug Administration approval for use of MEK inhibitors to shrink most inoperable plexiform neurofibromas. This article details methods used for testing in preclinical models, and outlines newer models that may identify additional, curative, strategies.

• Authors: Natasha Pillay-Smiley, Jonathan S Fletcher, Peter de Blank, Nancy Ratner
• Journal: Pediatric clinics of North America (Pediatr Clin North Am) Vol. 70 Issue 5 Pg. 937-950 (10 2023) ISSN: 1557-8240 [Electronic] United States
• PMID: 37704352 (Publication Type: Journal Article, Review, Research Support, U.S. Gov't, Non-P.H.S., Research Support, N.I.H., Extramural)
• Copyright: Copyright © 2023 Elsevier Inc. All rights reserved.

Topics

• United States
• Humans
• Animals
• Mice
• Child
• Neurofibromatosis 1 (complications, diagnosis, drug therapy)
• Neurofibroma, Plexiform (complications, drug therapy)