{"id":799,"date":"2015-09-02T18:17:19","date_gmt":"2015-09-02T18:17:19","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=799"},"modified":"2015-09-02T18:17:19","modified_gmt":"2015-09-02T18:17:19","slug":"paraspinal-neurofibromas-and-hypertrophic-neuropathy-in-noonan-syndrome-with-multiple-lentigines","status":"publish","type":"post","link":"https:\/\/stg-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"},"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. (By Drs. Dusica Babovic-Vuksanovic and Erin Conboy, <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:\/\/stg-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:\/\/stg-blogs.bmj.com\/jmg\/files\/2015\/09\/Blog-Figure-3-300x169.jpg\" alt=\"Blog Figure 3\" width=\"300\" height=\"169\" srcset=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2015\/09\/Blog-Figure-3-300x169.jpg 300w, https:\/\/stg-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:\/\/stg-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":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-799","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/799","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=799"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/799\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=799"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=799"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=799"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}