Abstract
The growth behaviors of cutaneous neurofibromas in patients with Neurofibromatosis type 1 are highly variable. The role of the germline NF1 mutation, somatic NF1 mutation and mutations at modifying loci, are poorly understood. We performed whole exome sequencing of three growing and three non-growing neurofibromas from a single individual to assess the role of acquired somatic mutations in neurofibroma growth behavior. 1–11 mutations were identified in each sample, including two deleterious NF1 mutations. No trends were present between the types of somatic mutations identified and growth behavior. Mutations in the HIPPO signaling pathway appeared to be overrepresented.
Highlights
Neurofibromatosis type 1 (NF1), is an autosomal dominant disorder that affects approximately one in 3500 people[1]
Two somatic mutations were found in NF1
While the germline mutations in NF1 are well cataloged, with >1000 mutations identified to date, there is a paucity of information on the assumed acquired somatic mutations in Cutaneous neurofibromas (CN)[15]
Summary
Neurofibromatosis type 1 (NF1), is an autosomal dominant disorder that affects approximately one in 3500 people[1]. The underlying cause is a heterozygous mutation in the Neurofibromatosis type 1 gene (NF1). Cutaneous neurofibromas (CN) are one the most frequent manifestations and a key portion of the diagnostic criteria. NF1 has considerable variability in clinical presentation among affected individuals, within families, and even within an individual throughout life[2]. CN can vary from a few to thousands, develop throughout life at different rates and may or may not continue to grow once they have appeared. The genomic underpinnings of CN growth and development are poorly understood
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
