title: Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis.
abstract: Schwannomatosis is a genetic disorder characterized by the occurrence of multiple peripheral schwannomas. Segmental schwannomatosis is diagnosed when schwannomas are restricted to 1 extremity and is thought to be caused by genetic mosaicism. We studied 5 patients with segmental schwannomatosis through microstructural magnetic resonance neurography and mutation analysis of NF2, SMARCB1, and LZTR1. In 4 of 5 patients, subtle fascicular nerve lesions were detected in clinically unaffected extremities. Two patients exhibited LZTR1 germline mutations. This appears contrary to a simple concept of genetic mosaicism and suggests more complex and heterogeneous mechanisms underlying the phenotype of segmental schwannomatosis than previously thought. Ann Neurol 2016;80:625-628.
authors.affiliation: Department of Neurology, University Medical Center Hamburg-Eppendorf, University of Hamburg, Hamburg, Germany.
authors.forename: Said
authors.initials: S
authors.lastname: Farschtschi
authors.affiliation: Department of Neurology, University Medical Center Hamburg-Eppendorf, University of Hamburg, Hamburg, Germany. v.mautner@uke.uni-hamburg.de.
authors.forename: Victor-Felix
authors.initials: VF
authors.lastname: Mautner
authors.affiliation: Department of Neuroradiology, Heidelberg University Hospital, Heidelberg, Germany.
authors.forename: Mirko
authors.initials: M
authors.lastname: Pham
authors.affiliation: Department of Oncology, St Jude Children's Research Hospital, Memphis, TN.
authors.forename: Rosa
authors.initials: R
authors.lastname: Nguyen
authors.affiliation: Institute of Human Genetics, University of Ulm, Ulm, Germany.
authors.forename: Hildegard
authors.initials: H
authors.lastname: Kehrer-Sawatzki
authors.affiliation: Division of Pediatric Neuro-oncology, German Cancer Research Center, Heidelberg, Germany.
authors.forename: Sonja
authors.initials: S
authors.lastname: Hutter
authors.affiliation: Department of Maxillofacial Surgery, University Medical Center Hamburg-Eppendorf, University of Hamburg, Hamburg, Germany.
authors.forename: Reinhard E
authors.initials: RE
authors.lastname: Friedrich
authors.affiliation: Leibniz Institute on Aging, Fritz Lipmann Institute, Jena, Germany.
authors.forename: Alexander
authors.initials: A
authors.lastname: Schulz
authors.affiliation: Leibniz Institute on Aging, Fritz Lipmann Institute, Jena, Germany.
authors.forename: Helen
authors.initials: H
authors.lastname: Morrison
authors.affiliation: Division of Pediatric Neuro-oncology, German Cancer Research Center, Heidelberg, Germany.
authors.forename: David T W
authors.initials: DT
authors.lastname: Jones
authors.affiliation: Department of Neuroradiology, Heidelberg University Hospital, Heidelberg, Germany.
authors.forename: Martin
authors.initials: M
authors.lastname: Bendszus
authors.affiliation: Department of Neuroradiology, Heidelberg University Hospital, Heidelberg, Germany.|Department of Radiology, German Cancer Research Center, Heidelberg, Germany.
authors.forename: Philipp
authors.initials: P
authors.lastname: Bäumer
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D035002:Lower Extremity / Q000000981:diagnostic imaging* / Q000294:innervation; D008160:Lumbosacral Plexus / Q000000981:diagnostic imaging; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009442:Neurilemmoma / Q000000981:diagnostic imaging* / Q000235:genetics*; D017253:Neurofibromatoses / Q000000981:diagnostic imaging* / Q000235:genetics*; D010525:Peripheral Nerves / Q000000981:diagnostic imaging*; D012878:Skin Neoplasms / Q000000981:diagnostic imaging* / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D034941:Upper Extremity / Q000000981:diagnostic imaging* / Q000294:innervation
chemical_list: C509917:LZTR1 protein, human; D014157:Transcription Factors