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The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas

Content Provider	Springer Nature Link
Author	Upadhyaya, Meena Spurlock, Gill Kluwe, Lan Chuzhava, Nadia Bennett, Emma Thomas, Nick Guha, Abhijit Mautner, Victor
Copyright Year	2009
Abstract	Neurofibromatosis type 1 (NF1) is a common inherited complex multi-system disorder associated with the growth of various benign and malignant tumors. About 40% of NF1 patients develop spinal tumors, of whom some have familial spinal neurofibromatosis (FSNF), a variant form of NF1 in which patients present with multiple bilateral spinal tumors but have few other clinical features of the disease. We have studied 22 spinal neurofibromas derived from 14 unrelated NF1 patients. Seven of these patients satisfied the diagnostic criteria of NF1 while the remaining seven had only few features of NF1. The latter group defined as FSNF harbored significantly higher number of missense or missense and splice-site germline mutations compared to the group with classical NF1. This is the first study to describe NF1 somatic mutations in spinal neurofibromas. Loss-of-heterozygosity (LOH) was identified in 8/22 of the spinal tumors, 75% of LOH observed was found to result from mitotic recombination, suggesting that this may represent a frequent mutational mechanisms in these benign tumors. No evidence for LOH of the TP53 gene was found in these tumors.
Starting Page	251
Ending Page	263
Page Count	13
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	10
Issue Number	3
e-ISSN	13646753
Language	English
Publisher	Springer-Verlag
Publisher Date	2009-02-17
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	NF1 Spinal neurofibromas Germline Somatic Tumors Mitotic recombination Neurosciences Molecular Medicine Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas

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