title: An unusual case of schwannomatosis with bilateral maxillary sinus schwannomas and a novel SMARCB1 gene mutation.
abstract: Schwannomas are benign tumors that arise from Schwann cells in the peripheral nervous system. Patients with multiple schwannomas without signs and symptoms of neurofibromatosis Type 1 or 2 have the rare disease schwannomatosis. Tumors in these patients occur along peripheral nerves throughout the body. Mutations of the SMARCB1 gene have been described as one of the predisposing genetic factors in the development of this disease. This report describes a patient who was observed for 6 years after having undergone removal of 7 schwannomas, including bilateral maxillary sinus schwannomas, a tumor that has not been previously reported. Genetic analysis revealed a novel mutation of c.93G>A in exon 1 of the SMARCB1 gene.
authors.affiliation: Departments of 1 Neurosurgery.
authors.forename: Jamie
authors.initials: J
authors.lastname: Toms
authors.affiliation: Departments of 1 Neurosurgery.
authors.forename: Jason
authors.initials: J
authors.lastname: Harrison
authors.affiliation: Pathology, and.
authors.forename: Hope
authors.initials: H
authors.lastname: Richard
authors.affiliation: Otolaryngology, Virginia Commonwealth University, Medical College of Virginia, Richmond, Virginia.
authors.forename: Adrienne
authors.initials: A
authors.lastname: Childers
authors.affiliation: Otolaryngology, Virginia Commonwealth University, Medical College of Virginia, Richmond, Virginia.
authors.forename: Evan R
authors.initials: ER
authors.lastname: Reiter
authors.affiliation: Departments of 1 Neurosurgery.
authors.forename: Robert S
authors.initials: RS
authors.lastname: Graham
mesh_terms: D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008443:Maxillary Sinus / Q000473:pathology*; D009154:Mutation / Q000235:genetics*; D009442:Neurilemmoma / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D017253:Neurofibromatoses / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D000071796:SMARCB1 Protein; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics*; D055815:Young Adult
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors
keywords: SMARCB1; oncology; perinasal schwannoma; peripheral nerve sheath tumor; schwannomatosis