{"id":860,"date":"2016-02-05T21:43:50","date_gmt":"2016-02-05T21:43:50","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=860"},"modified":"2026-02-25T00:17:02","modified_gmt":"2026-02-25T00:17:02","slug":"an-interstitial-deletion-within-9p21-3-and-extending-beyond-cdkn2a-predisposes-to-melanoma-neural-system-tumours-and-possible-haematological-malignancies","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2016\/02\/05\/an-interstitial-deletion-within-9p21-3-and-extending-beyond-cdkn2a-predisposes-to-melanoma-neural-system-tumours-and-possible-haematological-malignancies\/","title":{"rendered":"An interstitial deletion within 9p21.3 and extending beyond CDKN2A predisposes to melanoma, neural system tumours and possible haematological malignancies (Contributed by Dr. Maria J. Baker)"},"content":{"rendered":"<p>We report a 52 year old Caucasian male with a referring diagnosis of neurofibromatosis type 1 (NF1), due to multiple nerve sheath tumors, who was subsequently found to have a large deletion spanning <em>CDKN2A,<\/em>the major melanoma susceptibility gene, and including approximately 24 additional genes underlying his strong family history of melanoma and neural system tumors.\u00a0 Traditional Sanger sequencing initially missed the <em>CDKN2A<\/em> deletion.\u00a0 Knowledge regarding the association of melanoma and neural system tumors, though, informed additional testing that permitted the detection of the large deletion and now provides an accurate test for relatives at potential risk for cancer.\u00a0 A clinical team was assembled and a management strategy developed to address the unusual constellation of tumors exhibited by family members, not all of which, at this time, have been proven to relate to the large familial deletion. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2016\/01\/21\/jmedgenet-2015-103446\">http:\/\/jmg.bmj.com\/content\/early\/2016\/01\/21\/jmedgenet-2015-103446<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>We report a 52 year old Caucasian male with a referring diagnosis of neurofibromatosis type 1 (NF1), due to multiple nerve sheath tumors, who was subsequently found to have a large deletion spanning CDKN2A,the major melanoma susceptibility gene, and including approximately 24 additional genes underlying his strong family history of melanoma and neural system tumors.\u00a0 [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2016\/02\/05\/an-interstitial-deletion-within-9p21-3-and-extending-beyond-cdkn2a-predisposes-to-melanoma-neural-system-tumours-and-possible-haematological-malignancies\/\">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-860","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>An interstitial deletion within 9p21.3 and extending beyond CDKN2A predisposes to melanoma, neural system tumours and possible haematological malignancies (Contributed by Dr. Maria J. Baker) - 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\/2016\/02\/05\/an-interstitial-deletion-within-9p21-3-and-extending-beyond-cdkn2a-predisposes-to-melanoma-neural-system-tumours-and-possible-haematological-malignancies\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"An interstitial deletion within 9p21.3 and extending beyond CDKN2A predisposes to melanoma, neural system tumours and possible haematological malignancies (Contributed by Dr. Maria J. Baker) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"We report a 52 year old Caucasian male with a referring diagnosis of neurofibromatosis type 1 (NF1), due to multiple nerve sheath tumors, who was subsequently found to have a large deletion spanning CDKN2A,the major melanoma susceptibility gene, and including approximately 24 additional genes underlying his strong family history of melanoma and neural system tumors.\u00a0 [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2016\/02\/05\/an-interstitial-deletion-within-9p21-3-and-extending-beyond-cdkn2a-predisposes-to-melanoma-neural-system-tumours-and-possible-haematological-malignancies\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2016-02-05T21:43:50+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T00:17:02+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\\\/2016\\\/02\\\/05\\\/an-interstitial-deletion-within-9p21-3-and-extending-beyond-cdkn2a-predisposes-to-melanoma-neural-system-tumours-and-possible-haematological-malignancies\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/02\\\/05\\\/an-interstitial-deletion-within-9p21-3-and-extending-beyond-cdkn2a-predisposes-to-melanoma-neural-system-tumours-and-possible-haematological-malignancies\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"An interstitial deletion within 9p21.3 and extending beyond CDKN2A predisposes to melanoma, neural system tumours and possible haematological malignancies (Contributed by Dr. Maria J. 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