Bahuau M, Vidaud D, Jenkins RB, Bièche I, Kimmel DW, Assouline B et al (1998) Germ-line deletion involving the INK4 locus in familial proneness to melanoma and nervous system tumors. Cancer Res 58:2298–2303
Britsch S, Goerich DE, Riethmacher D, Peirano RI, Rossner M, Nave KA et al (2001) The transcription factor Sox10 is a key regulator of peripheral glial development. Genes Dev 15:66–78. https://doi.org/10.1101/gad.186601
Article CAS PubMed PubMed Central Google Scholar
Caltabiano R, Magro G, Polizzi A, Pratico AD, Ortensi A, D’Orazi V et al (2017) A mosaic pattern of INI1/SMARCB1 protein expression distinguishes schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas. Childs Nerv Syst 33:933–940. https://doi.org/10.1007/s00381-017-3340-2
Coy S, Rashid R, Stemmer-Rachamimov A, Santagata S (2020) An update on the CNS manifestations of neurofibromatosis type 2. Acta Neuropathol 139:643–665. https://doi.org/10.1007/s00401-019-02029-5
Finzsch M, Schreiner S, Kichko T, Reeh P, Tamm ER, Bosl MR et al (2010) Sox10 is required for Schwann cell identity and progression beyond the immature Schwann cell stage. J Cell Biol 189:701–712. https://doi.org/10.1083/jcb.200912142
Article CAS PubMed PubMed Central Google Scholar
Helbing DL, Schulz A, Morrison H (2020) Pathomechanisms in schwannoma development and progression. Oncogene 39:5421–5429. https://doi.org/10.1038/s41388-020-1374-5
Article CAS PubMed PubMed Central Google Scholar
Hulsebos TJ, Plomp AS, Wolterman RA, Robanus-Maandag EC, Baas F, Wesseling P (2007) Germline mutation of INI1/SMARCB1 in familial schwannomatosis. Am J Hum Genet 80:805–810. https://doi.org/10.1086/513207
Article CAS PubMed PubMed Central Google Scholar
Mansouri S, Suppiah S, Mamatjan Y, Paganini I, Liu JC, Karimi S et al (2021) Epigenomic, genomic, and transcriptomic landscape of schwannomatosis. Acta Neuropathol 141:101–116. https://doi.org/10.1007/s00401-020-02230-x
Article CAS PubMed Google Scholar
Paganini I, Chang VY, Capone GL, Vitte J, Benelli M, Barbetti L et al (2015) Expanding the mutational spectrum of LZTR1 in schwannomatosis. Eur J Hum Genet 23:963–968. https://doi.org/10.1038/ejhg.2014.220
Article CAS PubMed Google Scholar
Piotrowski A, Xie J, Liu YF, Poplawski AB, Gomes AR, Madanecki P et al (2014) Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. Nat Genet 46:182–187. https://doi.org/10.1038/ng.2855
Article CAS PubMed Google Scholar
Plotkin SR, Messiaen L, Legius E, Pancza P, Avery RA, Blakeley JO et al (2022) Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: an international consensus recommendation. Genet Med 24:1967–1977. https://doi.org/10.1016/j.gim.2022.05.007
Article CAS PubMed Google Scholar
Rivera B, Nadaf J, Fahiminiya S, Apellaniz-Ruiz M, Saskin A, Chong AS et al (2020) DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis. J Clin Invest 130:1479–1490. https://doi.org/10.1172/jci130206
Article CAS PubMed PubMed Central Google Scholar
Sargen MR, Kim J, Potjer TP, Velthuizen ME, Martir-Negron AE, Odia Y et al (2023) Estimated prevalence, tumor spectrum, and neurofibromatosis type 1-like phenotype of CDKN2A-related melanoma-astrocytoma syndrome. JAMA Dermatol. https://doi.org/10.1001/jamadermatol.2023.2621
Sestini R, Bacci C, Provenzano A, Genuardi M, Papi L (2008) Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. Hum Mutat 29:227–231. https://doi.org/10.1002/humu.20679
Article CAS PubMed Google Scholar
Smith MJ, Wallace AJ, Bowers NL, Rustad CF, Woods CG, Leschziner GD et al (2012) Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis. Neurogenetics 13:141–145. https://doi.org/10.1007/s10048-012-0319-8
Article CAS PubMed Google Scholar
Trofatter JA, MacCollin MM, Rutter JL, Murrell JR, Duyao MP, Parry DM et al (1993) A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 72:791–800. https://doi.org/10.1016/0092-8674(93)90501-g
Article CAS PubMed Google Scholar
Vasudevan HN, Lucas CG, Villanueva-Meyer JE, Theodosopoulos PV, Raleigh DR (2021) Genetic events and signaling mechanisms underlying Schwann cell fate in development and cancer. Neurosurgery 88:234–245. https://doi.org/10.1093/neuros/nyaa455
Williams EA, Ravindranathan A, Gupta R, Stevers NO, Suwala AK, Hong C et al (2023) Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programs. Neuro Oncol. https://doi.org/10.1093/neuonc/noad121
Comments (0)