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The 2011 Schwannomatosis Update was organized by the Children's Tumor Foundation (<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/www.ctf.org\/\">www.ctf.org<\/jats:ext-link>) and held in Los Angeles, CA, from June 5\u20138, 2011. This article summarizes the highlights presented at the Conference and represents the \u201cstate\u2010of\u2010the\u2010field\u201d in 2011. Genetic studies indicate that constitutional mutations in the <jats:italic>SMARCB1<\/jats:italic> tumor suppressor gene occur in 40\u201350% of familial cases and in 8\u201310% of sporadic cases of schwannomatosis. Tumorigenesis is thought to occur through a four\u2010hit, three\u2010step model, beginning with a germline mutation in <jats:italic>SMARCB1<\/jats:italic> (hit 1), followed by loss of a portion of chromosome 22 that contains the second <jats:italic>SMARCB1<\/jats:italic> allele and one <jats:italic>NF2<\/jats:italic> allele (hits 2 and 3), followed by mutation of the remaining wild\u2010type <jats:italic>NF2<\/jats:italic> allele (hit 4). Insights from research on HIV and pediatric rhabdoid tumors have shed light on potential molecular pathways that are dysregulated in schwannomatosis\u2010related schwannomas. Mouse models of schwannomatosis have been developed and promise to further expand our understanding of tumorigenesis and the tumor microenvironment. Clinical reports have described the occurrence of intracranial meningiomas in schwannomatosis patients and in families with germline <jats:italic>SMARCB1<\/jats:italic> mutations. The authors propose updated diagnostic criteria to incorporate new clinical and genetic findings since 2005. In the next 5 years, the authors expect that advances in basic research in the pathogenesis of schwannomatosis will lead toward clinical investigations of potential drug therapies. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35760","type":"journal-article","created":{"date-parts":[[2013,2,8]],"date-time":"2013-02-08T02:26:51Z","timestamp":1360290411000},"page":"405-416","source":"Crossref","is-referenced-by-count":162,"title":["Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria"],"prefix":"10.1002","volume":"161","author":[{"given":"Scott R.","family":"Plotkin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaishri O.","family":"Blakeley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. 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