{"id":1999,"date":"2024-08-30T12:11:48","date_gmt":"2024-08-30T12:11:48","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1999"},"modified":"2026-02-22T01:38:36","modified_gmt":"2026-02-22T01:38:36","slug":"genetic-findings-in-people-with-schwannomas-who-do-not-meet-clinical-diagnostic-criteria-for-nf2-related-schwannomatosis","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2024\/08\/30\/genetic-findings-in-people-with-schwannomas-who-do-not-meet-clinical-diagnostic-criteria-for-nf2-related-schwannomatosis\/","title":{"rendered":"Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis (Contributed by Dr Miriam J Smith)"},"content":{"rendered":"<p><em>NF2<\/em>-,\u00a0<em>LZTR1<\/em>&#8211; and\u00a0<em>SMARCB1<\/em>-related schwannomatosis share significant clinical overlap.\u00a0<em>NF2<\/em>-related schwannomatosis (NF2) is the commonest, but the form of schwannomatosis in people not meeting NF2 criteria is unclear.<\/p>\n<p>We summarise genetic findings in paired germline and schwannoma DNA from people with schwannomas, but not meeting NF2 criteria. We show similar proportions of\u00a0<em>LZTR1<\/em>,\u00a0<em>SMARCB1<\/em>, or mosaic\u00a0<em>NF2<\/em>\u00a0variants. We also found a high proportion with no identified germline variant, or an\u00a0<em>LZTR1<\/em> variant of uncertain significance, or with only one tumour who may still have mosaic NF2. Our results highlight the importance of comprehensive clinical genetic testing and variant classification. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2024\/08\/29\/jmg-2024-110217\">https:\/\/jmg.bmj.com\/content\/early\/2024\/08\/29\/jmg-2024-110217<\/a>)<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>NF2-,\u00a0LZTR1&#8211; and\u00a0SMARCB1-related schwannomatosis share significant clinical overlap.\u00a0NF2-related schwannomatosis (NF2) is the commonest, but the form of schwannomatosis in people not meeting NF2 criteria is unclear. We summarise genetic findings in paired germline and schwannoma DNA from people with schwannomas, but not meeting NF2 criteria. We show similar proportions of\u00a0LZTR1,\u00a0SMARCB1, or mosaic\u00a0NF2\u00a0variants. We also found a [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2024\/08\/30\/genetic-findings-in-people-with-schwannomas-who-do-not-meet-clinical-diagnostic-criteria-for-nf2-related-schwannomatosis\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1999","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis (Contributed by Dr Miriam J Smith) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2024\/08\/30\/genetic-findings-in-people-with-schwannomas-who-do-not-meet-clinical-diagnostic-criteria-for-nf2-related-schwannomatosis\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis (Contributed by Dr Miriam J Smith) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"NF2-,\u00a0LZTR1&#8211; and\u00a0SMARCB1-related schwannomatosis share significant clinical overlap.\u00a0NF2-related schwannomatosis (NF2) is the commonest, but the form of schwannomatosis in people not meeting NF2 criteria is unclear. We summarise genetic findings in paired germline and schwannoma DNA from people with schwannomas, but not meeting NF2 criteria. We show similar proportions of\u00a0LZTR1,\u00a0SMARCB1, or mosaic\u00a0NF2\u00a0variants. We also found a [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2024\/08\/30\/genetic-findings-in-people-with-schwannomas-who-do-not-meet-clinical-diagnostic-criteria-for-nf2-related-schwannomatosis\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2024-08-30T12:11:48+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T01:38:36+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/08\\\/30\\\/genetic-findings-in-people-with-schwannomas-who-do-not-meet-clinical-diagnostic-criteria-for-nf2-related-schwannomatosis\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/08\\\/30\\\/genetic-findings-in-people-with-schwannomas-who-do-not-meet-clinical-diagnostic-criteria-for-nf2-related-schwannomatosis\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis (Contributed by Dr Miriam J Smith)\",\"datePublished\":\"2024-08-30T12:11:48+00:00\",\"dateModified\":\"2026-02-22T01:38:36+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/08\\\/30\\\/genetic-findings-in-people-with-schwannomas-who-do-not-meet-clinical-diagnostic-criteria-for-nf2-related-schwannomatosis\\\/\"},\"wordCount\":135,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/08\\\/30\\\/genetic-findings-in-people-with-schwannomas-who-do-not-meet-clinical-diagnostic-criteria-for-nf2-related-schwannomatosis\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/08\\\/30\\\/genetic-findings-in-people-with-schwannomas-who-do-not-meet-clinical-diagnostic-criteria-for-nf2-related-schwannomatosis\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/08\\\/30\\\/genetic-findings-in-people-with-schwannomas-who-do-not-meet-clinical-diagnostic-criteria-for-nf2-related-schwannomatosis\\\/\",\"name\":\"Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis (Contributed by Dr Miriam J Smith) - 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