{"id":799,"date":"2015-09-02T18:17:19","date_gmt":"2015-09-02T18:17:19","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=799"},"modified":"2026-02-25T00:39:24","modified_gmt":"2026-02-25T00:39:24","slug":"paraspinal-neurofibromas-and-hypertrophic-neuropathy-in-noonan-syndrome-with-multiple-lentigines","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2015\/09\/02\/paraspinal-neurofibromas-and-hypertrophic-neuropathy-in-noonan-syndrome-with-multiple-lentigines\/","title":{"rendered":"Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with Multiple Lentigines (Contributed by Drs. Dusica Babovic-Vuksanovic and Erin Conboy)"},"content":{"rendered":"<p>Noonan syndrome with multiple lentigines, (NSML) formerly known as LEOPARD syndrome, has overlapping features with other RASopathies. Except for neurofibromatosis type 1, other disorders that result from dysregulated RAS\/MAPK pathway are not known to be associated with neurogenic tumors. We identified four patients from three families with NSML, progressive neuropathy, enlarged nerves, massive burden of paraspinal neurofibromas and a mutation in the PTP catalytic domain of the <em>PTPN11<\/em> gene (p.Thr468Met and p.Thr279Cys). Analysis of hypertrophic nerve did not disclose a second somatic hit in <em>NF1,<\/em> <em>PTPN11,<\/em> <em>NF2 or SMARCB1 <\/em>genes<em>. <\/em>Neurogenic tumors and hypertrophic neuropathy may be under-recognized manifestations of NSML that would warrant surveillance. Our observation may also have implications for other disorders caused by RAS-pathway dysregulation. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2015\/09\/02\/jmedgenet-2015-103177\">http:\/\/jmg.bmj.com\/content\/early\/2015\/09\/02\/jmedgenet-2015-103177<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/09\/Blog-Figure-3.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-800\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/09\/Blog-Figure-3-300x169.jpg\" alt=\"Blog Figure 3\" width=\"300\" height=\"169\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/09\/Blog-Figure-3-300x169.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2015\/09\/Blog-Figure-3.jpg 787w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Noonan syndrome with multiple lentigines, (NSML) formerly known as LEOPARD syndrome, has overlapping features with other RASopathies. Except for neurofibromatosis type 1, other disorders that result from dysregulated RAS\/MAPK pathway are not known to be associated with neurogenic tumors. We identified four patients from three families with NSML, progressive neuropathy, enlarged nerves, massive burden of [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2015\/09\/02\/paraspinal-neurofibromas-and-hypertrophic-neuropathy-in-noonan-syndrome-with-multiple-lentigines\/\">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-799","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>Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with Multiple Lentigines (Contributed by Drs. Dusica Babovic-Vuksanovic and Erin Conboy) - 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\/2015\/09\/02\/paraspinal-neurofibromas-and-hypertrophic-neuropathy-in-noonan-syndrome-with-multiple-lentigines\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with Multiple Lentigines (Contributed by Drs. Dusica Babovic-Vuksanovic and Erin Conboy) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Noonan syndrome with multiple lentigines, (NSML) formerly known as LEOPARD syndrome, has overlapping features with other RASopathies. Except for neurofibromatosis type 1, other disorders that result from dysregulated RAS\/MAPK pathway are not known to be associated with neurogenic tumors. 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