title: Whole Exome Sequencing of Growing and Non-Growing Cutaneous Neurofibromas from a Single Patient with Neurofibromatosis Type 1.
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.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, University of California San Francisco, San Francisco, California, United States of America.
authors.forename: Daniel L
authors.initials: DL
authors.lastname: Faden
authors.affiliation: Helen Diller Comprehensive Cancer Center, University of California San Francisco, San Francisco, California, United States of America.
authors.forename: Saurabh
authors.initials: S
authors.lastname: Asthana
authors.affiliation: Department of Pathology, University of California San Francisco, San Francisco, California, United States of America.
authors.forename: Tarik
authors.initials: T
authors.lastname: Tihan
authors.affiliation: Department of Biochemistry and Biophysics, University of California San Francisco, San Francisco, California, United States of America.
authors.forename: Joseph
authors.initials: J
authors.lastname: DeRisi
authors.affiliation: Department of Neurosurgery, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States of America.
authors.forename: Michel
authors.initials: M
authors.lastname: Kliot
mesh_terms: D000328:Adult; D001483:Base Sequence; D059472:Exome / Q000235:genetics*; D016514:Genes, Neurofibromatosis 1; D000090683:Hippo Signaling Pathway; D006801:Humans; D009455:Neurofibroma / Q000235:genetics*; D009456:Neurofibromatosis 1 / Q000235:genetics*; D025542:Neurofibromin 1 / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics / Q000378:metabolism; D017422:Sequence Analysis, DNA
chemical_list: D025542:Neurofibromin 1; D017346:Protein Serine-Threonine Kinases