Messersmith L, Krauland K. Neurofibroma. 2019.

Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol. 1988;45(5):575–8.

Gutmann DH, Aylsworth A, Carey JC, Korf B, Marks J, Pyeritz RE, et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA. 1997;278(1):51–7.

CAS  PubMed  Article  Google Scholar 

MacCollin M, Woodfin W, Kronn D, Short MP. Schwannomatosis: a clinical and pathologic study. Neurology. 1996;46(4):1072–9.

CAS  PubMed  Article  Google Scholar 

Baser ME, Friedman JM, Evans DG. Increasing the specificity of diagnostic criteria for schwannomatosis. Neurology. 2006;66(5):730–2.

PubMed  Article  Google Scholar 

Evans DG, Bowers NL, Tobi S, Hartley C, Wallace AJ, King AT, et al. Schwannomatosis: a genetic and epidemiological study. J Neurol Neurosurg Psychiatry. 2018;89(11):1215–9.

PubMed  Article  Google Scholar 

Christiaans I, Kenter SB, Brink HC, van Os TA, Baas F, van den Munckhof P, et al. Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas. J Med Genet. 2011;48(2):93–7.

CAS  PubMed  Article  Google Scholar 

Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, et al. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat. 2000;15(6):541–55.

CAS  PubMed  Article  Google Scholar 

Evans DG, Ramsden RT, Shenton A, Gokhale C, Bowers NL, Huson SM, et al. Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification. J Med Genet. 2007;44(7):424–8.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Hulsebos TJ, Kenter SB, Jakobs ME, Baas F, Chong B, Delatycki MB. SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis. Clin Genet. 2010;77(1):86–91.

CAS  PubMed  Article  Google Scholar 

Hadfield KD, Newman WG, Bowers NL, Wallace A, Bolger C, Colley A, et al. Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. J Med Genet. 2008;45(6):332–9.

CAS  PubMed  Article  Google Scholar 

Smith MJ, Wallace AJ, Bowers NL, Rustad CF, Woods CG, Leschziner GD, et al. Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis. Neurogenetics. 2012;13(2):141–5.

CAS  PubMed  Article  Google Scholar 

Piotrowski A, Xie J, Liu YF, Poplawski AB, Gomes AR, Madanecki P, et al. Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. Nat Genet. 2014;46(2):182–7.

CAS  PubMed  Article  Google Scholar 

Ko JM, Sohn YB, Jeong SY, Kim HJ, Messiaen LM. Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. Pediatr Neurol. 2013;48(6):447–53.

PubMed  Article  Google Scholar 

Pros E, Gomez C, Martin T, Fabregas P, Serra E, Lazaro C. Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations. Hum Mutat. 2008;29(9):E173–93.

PubMed  Article  Google Scholar 

Valero MC, Martin Y, Hernandez-Imaz E, Marina Hernandez A, Melean G, Valero AM, et al. A highly sensitive genetic protocol to detect NF1 mutations. J Mol Diagn. 2011;13(2):113–22.

CAS  PubMed  Article  Google Scholar 

van Minkelen R, van Bever Y, Kromosoeto JN, Withagen-Hermans CJ, Nieuwlaat A, Halley DJ, et al. A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. Clin Genet. 2014;85(4):318–27.

PubMed  Article  CAS  Google Scholar 

Wimmer K, Roca X, Beiglbock H, Callens T, Etzler J, Rao AR, et al. Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5’ splice-site disruption. Hum Mutat. 2007;28(6):599–612.

Steklov M, Pandolfi S, Baietti MF, Batiuk A, Carai P, Najm P, et al. Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination. Science. 2018;362(6419):1177–82.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–24.

PubMed  PubMed Central  Article  Google Scholar 

Smith MJ, Bowers NL, Bulman M, Gokhale C, Wallace AJ, King AT, et al. Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis. Neurology. 2017;88(1):87–92.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Evans DG, Howard E, Giblin C, Clancy T, Spencer H, Huson SM, et al. Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A. 2010;152A(2):327–32.

CAS  PubMed  Article  Google Scholar 

Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ. Neurofibromatosis type 1. Nat Rev Dis Primers. 2017;3:17004.

PubMed  Article  Google Scholar 

DeBella K, Szudek J, Friedman JM. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics. 2000;105(3 Pt 1):608–14.

CAS  PubMed  Article  Google Scholar 

Evans DG. Neurofibromatosis type 2 (NF2): a clinical and molecular review. Orphanet J Rare Dis. 2009;4:16.

PubMed  PubMed Central  Article  Google Scholar 

Trofatter JA, MacCollin MM, Rutter JL, Murrell JR, Duyao MP, Parry DM, et al. A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell. 1993;75(4):826.

CAS  PubMed  Article  Google Scholar 

Merker VL, Esparza S, Smith MJ, Stemmer-Rachamimov A, Plotkin SR. Clinical features of schwannomatosis: a retrospective analysis of 87 patients. Oncologist. 2012;17(10):1317–22.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Plotkin SR, Bredella MA, Cai W, Kassarjian A, Harris GJ, Esparza S, et al. Quantitative assessment of whole-body tumor burden in adult patients with neurofibromatosis. PLoS ONE. 2012;7(4): e35711.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Gonzalvo A, Fowler A, Cook RJ, Little NS, Wheeler H, McDonald KL, et al. Schwannomatosis, sporadic schwannomatosis, and familial schwannomatosis: a surgical series with long-term follow-up. Clinical article J Neurosurg. 2011;114(3):756–62.

PubMed  Article  Google Scholar 

Swensen JJ, Keyser J, Coffin CM, Biegel JA, Viskochil DH, Williams MS. Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1. J Med Genet. 2009;46(1):68–72.

CAS  PubMed  Article  Google Scholar 

Sestini R, Bacci C, Provenzano A, Genuardi M, Papi L. Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. Hum Mutat. 2008;29(2):227–31.

CAS  PubMed  Article  Google Scholar 

Deiller C, Van-Gils J, Zordan C, Tinat J, Loiseau H, Fabre T, et al. Coexistence of schwannomatosis and glioblastoma in two families. Eur J Med Genet. 2019;62(8): 103680.

PubMed  Article  Google Scholar 

Smith MJ, Isidor B, Beetz C, Williams SG, Bhaskar SS, Richer W, et al. Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis. Neurology. 2015;84(2):141–7.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Farschtschi S, Mautner VF, Pham M, Nguyen R, Kehrer-Sawatzki H, Hutter S, et al. Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis. Ann Neurol. 2016;80(4):625–8.

CAS  PubMed  Article  Google Scholar 

Herrero San Martin A, Alcala-Galiano A. [Schwannoma of the posterior tibial nerve in a patient with schwannomatosis and a novel mutation of the LZTR1 gene]. Neurologia (Engl Ed). 2020;35(9):657–9.

Hutter S, Piro RM, Reuss DE, Hovestadt V, Sahm F, Farschtschi S, et al. Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants. Acta Neuropathol. 2014;128(3):449–52.

CAS  PubMed  Article  Google Scholar 

Jordan JT, Smith MJ, Walker JA, Erdin S, Talkowski ME, Merker VL, et al. Pain correlates with germline mutation in schwannomatosis. Medicine (Baltimore). 2018;97(5): e9717.

CAS  Article  Google Scholar 

Louvrier C, Pasmant E, Briand-Suleau A, Cohen J, Nitschke P, Nectoux J, et al. Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis. Neuro Oncol. 2018;20(7):917–29.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Muthusamy K, Mrugala MM, Bendok BR, Dhamija R. LZTR1-related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis. Mol Genet Genomic Med. 2021;9(1):e1560.

PubMed  Article  Google Scholar 

Paganini I, Chang VY, Capone GL, Vitte J, Benelli M, Barbetti L, et al. Expanding the mutational spectrum of LZTR1 in schwannomatosis. Eur J Hum Genet. 2015;23(7):963–8.

CAS  PubMed  Article  Google Scholar 

Asai K, Tani S, Mineharu Y, Tsurusaki Y, Imai Y, Agawa Y, et al. Familial schwannomatosis with a germline mutation of SMARCB1 in Japan. Brain Tumor Pathol. 2015;32(3):216–20.