{"id":628,"date":"2020-07-01T07:49:36","date_gmt":"2020-07-01T04:49:36","guid":{"rendered":"https:\/\/sites.uef.fi\/genediagnostics\/?page_id=628"},"modified":"2025-12-17T14:38:26","modified_gmt":"2025-12-17T12:38:26","slug":"feokromosytooma","status":"publish","type":"page","link":"https:\/\/sites.uef.fi\/genediagnostics\/monogeeniset-sairaudet\/feokromosytooma\/","title":{"rendered":"Feokromosytooma"},"content":{"rendered":"<p class=\"genediag_paragraph\">Feokromosytooma on lis\u00e4munuaisen ytimen yleens\u00e4 hyv\u00e4nlaatuinen kasvain (n. 10 % kasvaimista pahanlaatuisia). Se voi joskus sijaita lis\u00e4munuaisen ulkopuolellakin, jolloin sit\u00e4 kutsutaan paraganglioomiksi. Ne ovat useammin perinn\u00f6llisi\u00e4. Kasvaimessa syntyy katekoliamiineja, adrenaliinia ja noradrenaliinia, jotka aiheuttavat feokromosytoomataudille tyypilliset oireet (kohtauksittainen p\u00e4\u00e4ns\u00e4rky, hikoilu ja nopealy\u00f6ntisyys sek\u00e4 kohonnut verenpaine).<\/p>\n<p>Feokromosyytooma tai paragangliooma voi olla joko sproradinen tai familiaalinen (ORPHA: <a href=\"https:\/\/www.orpha.net\/consor\/cgi-bin\/Disease_Search.php?lng=EN&amp;data_id=8775&amp;Disease_Disease_Search_diseaseGroup=Hereditary-pheochromocytoma-paraganglioma&amp;Disease_Disease_Search_diseaseType=Pat&amp;Disease(s)\/group%20of%20diseases=Hereditary-pheochromocytoma-paraganglioma&amp;title=Hereditary%20pheochromocytoma-paraganglioma&amp;search=Disease_Search_Simple\">29072<\/a>, OMIM: <a href=\"https:\/\/omim.org\/entry\/171300\">171300<\/a>).<br \/>\nKlassiseen feokromosytoomaan liittyv\u00e4t geenit ovat:<\/p>\n<ul>\n<li class=\"genediag_paragraph\"><em>VHL<\/em>\u00a0(OMIM: <a href=\"https:\/\/omim.org\/entry\/608537\">608537<\/a>) von Hippel-Lindau syndrooma, (OMIM: <a href=\"https:\/\/omim.org\/entry\/193300\">193300<\/a>)<\/li>\n<li class=\"genediag_paragraph\"><em>RET<\/em>\u00a0(OMIM: <a href=\"https:\/\/omim.org\/entry\/164761\">164761<\/a>) liittyneen\u00e4 MEN2 syndroomaan (MEN2A: OMIM: <a href=\"https:\/\/omim.org\/entry\/171400\">171400<\/a>, MEN2B: OMIM: <a href=\"https:\/\/omim.org\/entry\/162300\">162300<\/a>, FMCT: OMIM: <a href=\"https:\/\/omim.org\/entry\/155240\">155240<\/a>)<\/li>\n<li class=\"genediag_paragraph\"><em>NF1<\/em> (OMIM: <a href=\"https:\/\/omim.org\/entry\/613113\">613113<\/a>)\u00a0liittyneen\u00e4 neurofibromatoosiin (tyyppi 1), OMIM: <a href=\"https:\/\/omim.org\/entry\/162200\">162200<\/a><\/li>\n<\/ul>\n<p>Uudemmista geeneist\u00e4 t\u00e4rkeimm\u00e4t ovat:<\/p>\n<ul>\n<li class=\"genediag_paragraph\"><em>VHL<\/em>\u00a0(von Hippel-Lindau tumor suppressor)<\/li>\n<li class=\"genediag_paragraph\"><em>SDHA<\/em>\u00a0(succinate dehydrogenase, OMIM: <a href=\"https:\/\/omim.org\/entry\/600857\">600857<\/a>)<\/li>\n<li class=\"genediag_paragraph\"><em>SDHB<\/em>\u00a0(succinate dehydrogenase B, OMIM: <a href=\"https:\/\/omim.org\/entry\/185470\">185470<\/a>)<\/li>\n<li class=\"genediag_paragraph\"><em>SDHC<\/em>\u00a0(succinate dehydrogenase C, OMIM: <a href=\"https:\/\/omim.org\/entry\/602413\">602413<\/a>)<\/li>\n<li class=\"genediag_paragraph\"><em>SDHD<\/em>\u00a0(succinate dehydrogenase D, OMIM: <a href=\"https:\/\/omim.org\/entry\/602690\">602690<\/a>)<\/li>\n<li class=\"genediag_paragraph\"><em>SDH5<\/em> \/<em> SDHAF2<\/em>\u00a0(succinate dehydrogenase 5\/AF2, OMIM: <a href=\"https:\/\/omim.org\/entry\/613019\">613019<\/a>)<\/li>\n<li class=\"genediag_paragraph\"><em>TMEM127<\/em>\u00a0(endosome-associated tumor suppressor gene, OMIM: <a href=\"https:\/\/omim.org\/entry\/613403\">613403<\/a>)<\/li>\n<li class=\"genediag_paragraph\"><em>MAX<\/em>\u00a0(MYC associated factor-X, OMIM: <a href=\"https:\/\/omim.org\/entry\/154950\">154950<\/a>)<\/li>\n<li class=\"genediag_paragraph\"><em>FH<\/em>\u00a0(fumarate hydratase, OMIM: <a href=\"https:\/\/omim.org\/entry\/136850\">136850<\/a>)<\/li>\n<li class=\"genediag_paragraph\"><em>EPAS1<\/em> \/ <em>HIF2A<\/em>\u00a0(hypoxia-inducible factor-2 alpha\/Endothelial pas domain protein 1, OMIM: <a href=\"https:\/\/omim.org\/entry\/603349\">603349<\/a>)<\/li>\n<li class=\"genediag_paragraph\"><em>EGLN1<\/em> \/ <em>PHD2<\/em>\u00a0(egl-9 family hypoxia-inducible factor 1\/prolyl hydroxylase domain isoform, OMIM: <a href=\"https:\/\/omim.org\/entry\/606425\">606425<\/a>)<\/li>\n<li class=\"genediag_paragraph\"><em>KIF1B<\/em>\u00a0(kinesin family member 1B, OMIM: <a href=\"https:\/\/omim.org\/entry\/605995\">605995<\/a>)<\/li>\n<li class=\"genediag_paragraph\"><em>IDH1<\/em>\u00a0(isocitrate dehydrogenase 1, OMIM: <a href=\"https:\/\/omim.org\/entry\/147700\">147700<\/a>)<\/li>\n<li class=\"genediag_paragraph\"><em>HRAS<\/em>\u00a0(HRas proto-oncogene, GTPase, OMIM: <a href=\"https:\/\/omim.org\/entry\/190020\">190020<\/a>)<\/li>\n<\/ul>\n<p>Tutkimus kattaa <em>NF1-, RET-, VHL-, SDHA-, SDHB-, SDHC-, SDHD-, SDHAF2-, TMEM127-, MAX-, FH-, EPAS1-, EGLN1-, KIF1B-, IDH1-, HRAS<\/em>-geenien koodaavan alueen sekvensoinnin ja <em>SDHB-, SDHC- ja SDHD<\/em>-geenien kopiolukuanalyysin.<\/p>\n<p>Alueet, joita tutkimus ei kata:<br \/>\n<em>MAX<\/em>-geeni, RefSeq-transkriptit NM_001271069 (eksoni 3) ja NM_197957 (eksoni 4), hg19-chr14:65473002-65472892<\/p>\n<p>Geenien koodaavien alueiden sekvensointiin k\u00e4ytet\u00e4\u00e4n uuden sukupolven sekvensointi (Next Generation Sequencing, NGS) tai perinteist\u00e4 kapillaarisekvensointia. Deleetioanalyysit suoritetaan kapillaarisekvensointilaitteella MLPA-menetelm\u00e4ll\u00e4.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Feokromosytooma on lis\u00e4munuaisen ytimen yleens\u00e4 hyv\u00e4nlaatuinen kasvain (n. 10 % kasvaimista pahanlaatuisia). Se voi joskus sijaita lis\u00e4munuaisen ulkopuolellakin, jolloin sit\u00e4 kutsutaan paraganglioomiksi. Ne ovat useammin perinn\u00f6llisi\u00e4. Kasvaimessa syntyy katekoliamiineja, adrenaliinia ja noradrenaliinia, jotka aiheuttavat feokromosytoomataudille tyypilliset oireet (kohtauksittainen p\u00e4\u00e4ns\u00e4rky, hikoilu ja nopealy\u00f6ntisyys sek\u00e4 kohonnut verenpaine). Feokromosyytooma tai paragangliooma voi olla joko sproradinen tai familiaalinen (ORPHA: [&hellip;]<\/p>\n","protected":false},"author":203,"featured_media":511,"parent":137,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"footnotes":""},"class_list":["post-628","page","type-page","status-publish","has-post-thumbnail","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.1.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Feokromosytooma - Geenidiagnostiikka<\/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:\/\/sites.uef.fi\/genediagnostics\/monogeeniset-sairaudet\/feokromosytooma\/\" \/>\n<meta property=\"og:locale\" content=\"fi_FI\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Feokromosytooma - Geenidiagnostiikka\" \/>\n<meta property=\"og:description\" content=\"Feokromosytooma on lis\u00e4munuaisen ytimen yleens\u00e4 hyv\u00e4nlaatuinen kasvain (n. 10 % kasvaimista pahanlaatuisia). Se voi joskus sijaita lis\u00e4munuaisen ulkopuolellakin, jolloin sit\u00e4 kutsutaan paraganglioomiksi. Ne ovat useammin perinn\u00f6llisi\u00e4. Kasvaimessa syntyy katekoliamiineja, adrenaliinia ja noradrenaliinia, jotka aiheuttavat feokromosytoomataudille tyypilliset oireet (kohtauksittainen p\u00e4\u00e4ns\u00e4rky, hikoilu ja nopealy\u00f6ntisyys sek\u00e4 kohonnut verenpaine). 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