Schwannomatosis is a cancer predisposition syndrome that can be associated with pathogenic variants in the genes NF2<\/em>, LZTR1<\/em> or SMARCB1<\/em>. A SMARCE1<\/em>-associated meningiomatosis is also known. On this page you will find information about LZTR1<\/em>– and SMARCB1<\/em>-associated schwannomatosis as well as information about meningiomatosis (OMIM #162091 (SMARCB<\/em>1), #615670 (LZTR<\/em>1), #607174 (SMARCE<\/em>1)). NF2<\/em>-associated schwannomatosis<\/a> is addressed in another section.<\/p>\n SMARCB1<\/em>-associated schwannomatosis is characterized by peripheral and spinal schwannomas, as well as an increased risk of meningiomas and malignant tumors of the peripheral nerve sheath, even in the absence of prior radiation exposure. This form does not present with bilateral vestibular schwannomas. Synonym:<\/p>\n<\/div><\/div><\/div> Genes:<\/p>\n<\/div><\/div><\/div> SMARCB<\/em>1 (INI1), LZTR<\/em>1 -> schwannomatosis Gene \u00adproducts:<\/p>\n<\/div><\/div><\/div> \u2022 SMARCB<\/em>1<\/p>\n \u2022 LZTR<\/em>1<\/p>\n \u2022 SMARCE<\/em>1<\/p>\n<\/div><\/div><\/div><\/div> Function:<\/p>\n<\/div><\/div><\/div> Regulators of gene expression and, thus tumor suppression<\/p>\n Pattern of inheritance:<\/p>\n<\/div><\/div><\/div> Autosomal dominant, 80% de novo<\/i> mutations<\/p>\n<\/div><\/div><\/div><\/div> Prevalence:<\/p>\n<\/div><\/div><\/div> < 1 : 40.000<\/p>\n<\/div><\/div><\/div><\/div> Genotype-phenotype correlation:<\/p>\n<\/div><\/div><\/div> SMARCB<\/em>1 schwannomatosis:<\/p>\n Penetrance:<\/p>\n<\/div><\/div><\/div> Incomplete<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>
\nPatients with LZTR1<\/em>-associated schwannomatosis usually have peripheral and spinal schwannomas. In rare cases, unilateral vestibular schwannomas have also been observed.
\nThe disease frequently does not occur until adulthood and exhibits clinical symptoms of chronic and often diffuse pain.<\/p>\n<\/div>
\nSMARCE<\/em>1 -> meningiomatosis<\/p>\n<\/div><\/div><\/div><\/div>\n
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