{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,3,29]],"date-time":"2022-03-29T13:23:07Z","timestamp":1648560187270},"reference-count":18,"publisher":"Georg Thieme Verlag KG","issue":"23","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dtsch Med Wochenschr"],"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:title>Was ist neu?<\/jats:title><jats:p>\n          Pathophysiologie und Epidemiologie\u2002Ph\u00e4ochromozytome und Paragangliome (PPGL) sind Tumoren des Nebennierenmarks bzw. der Paraganglien mit malignem Potenzial. Sie lassen sich anhand der zugrunde liegenden Mutationen in Cluster unterteilen. Cluster-1-Tumoren basieren auf einer Aktivierung von Pseudohypoxie-Signalwegen, Cluster-2-Tumoren auf einer Aktivierung von Tyrosinkinase-abh\u00e4ngigen Signalwegen. Cluster-3-Tumore sind mit Ver\u00e4nderungen in Wnt-abh\u00e4ngigen Signalwegen assoziiert (auf Cluster 3 wird im Weiteren nicht genauer eingegangen, da vieles hierzu noch unbekannt ist). In 30\u201335\u200a% der F\u00e4lle liegen (autosomal-dominant vererbte) Keimbahnmutationen vor. Weitere 35\u201340\u200a% der F\u00e4lle beruhen auf somatischen Mutationen. Die Penetranz der Erkrankung ist abh\u00e4ngig vom betroffenen Gen, liegt jedoch bei allen Genen unter 50\u200a%. Cluster-1-Tumoren sind h\u00e4ufiger extraadrenal lokalisiert und haben das h\u00f6chste Metastasierungsrisiko. Cluster-2-Tumoren sind meist adrenal lokalisiert und haben ein geringes Metastasierungsrisiko.<\/jats:p><jats:p>\n          Klinik und Diagnostik\u2002Patient*innen mit bekannter Keimbahnmutation sowie solche mit klinischen Zeichen und Symptomen eines PPGL, mit einem adrenalen Inzidentalom oder einem PPGL in der Vorgeschichte, sollten auf ein PPGL gescreent werden. Hierf\u00fcr werden Metanephrin (MN), Normetanephrin (NMN) und 3-Methoxythyramin (3MT) im Plasma (optimalerweise mittels Massenspektrometrie LC\/MS-MS) bestimmt. Cluster-1-Tumoren weisen ein noradrenerges, Cluster-2-Tumoren ein adrenerges Sekretionsmuster auf, wobei letztere mit einer ausgepr\u00e4gteren und h\u00e4ufig intermittierenden Klinik (Palpitationen, Tremor, Hyperhidrosis, Angst, hypertensive Entgleisung) einhergehen. Werden deutlich erh\u00f6hte MN- und\/oder NMN-Spiegel festgestellt, erfolgt eine bildgebende Tumorsuche mittels CT oder MRT, ggf. wird diese um eine funktionelle Bildgebung erg\u00e4nzt.<\/jats:p><jats:p>\n          Therapie\u2002Lokalisierte PPGL werden operativ entfernt. Dies kann meist minimalinvasiv erfolgen und sollte an einem erfahrenen Zentrum durchgef\u00fchrt werden. Um Komplikationen zu vermeiden, erfolgt pr\u00e4operativ eine medikament\u00f6se \u03b1-Rezeptorblockade. Metastasierte PPGL werden derzeit mit Radionuklidtherapie, Chemotherapie oder Tyrosinkinase-Inhibitoren behandelt, auch wenn es noch keine offiziell zugelassenen Therapien gibt. Weitere neue Therapien befinden sich derzeit in der klinischen Testung.<\/jats:p><jats:p>\n          Vor- und Nachsorge\u2002Die meisten Patient*innen, insbesondere die mit bestimmten Risikokonstellationen, ben\u00f6tigen aufgrund des Rezidiv- und Metastasenrisikos ein lebenslanges Follow-up, welches abh\u00e4ngig von der zugrunde liegenden Mutation gestaltet wird. Hierzu geh\u00f6rt die regelm\u00e4\u00dfige (meist j\u00e4hrliche) Bestimmung von MN und NMN im Plasma sowie in bestimmten F\u00e4llen auch eine Bildgebung. Da bei SDHx-Mutationen auch hormoninaktive PPGL auftreten k\u00f6nnen, werden f\u00fcr diese Patient*innen auch regelm\u00e4\u00dfige bildgebende Kontrollen nach einer k\u00fcrzlich erschienenen Leitlinie empfohlen.<\/jats:p>","DOI":"10.1055\/a-1240-9835","type":"journal-article","created":{"date-parts":[[2021,11,27]],"date-time":"2021-11-27T00:14:51Z","timestamp":1637972091000},"page":"1520-1526","source":"Crossref","is-referenced-by-count":0,"title":["Ph\u00e4ochromozytom \u2013 Modellerkrankung f\u00fcr die personalisierte Medizin"],"prefix":"10.1055","volume":"146","author":[{"given":"Hanna","family":"Remde","sequence":"additional","affiliation":[{"name":"Medizinische Klinik und Poliklinik I, Lehrstuhl Endokrinologie & Diabetologie, Universit\u00e4tsklinikum W\u00fcrzburg, Universit\u00e4t W\u00fcrzburg"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Svenja","family":"N\u00f6lting","sequence":"additional","affiliation":[{"name":"Med. Klinik und Poliklinik IV, Klinikum der Universit\u00e4t M\u00fcnchen, LMU M\u00fcnchen"},{"name":"Klinik f\u00fcr Endokrinologie, Diabetologie und Klinische Ern\u00e4hrung, Universit\u00e4tsspital Z\u00fcrich"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2021,11,26]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"625","DOI":"10.1530\/erc-20-0205","article-title":"HIF2\u03b1 supports pro-metastatic behavior in pheochromocytomas\/paragangliomas","volume":"27","author":"N Bechmann","year":"2020","journal-title":"Endocr Relat Cancer"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"539","DOI":"10.1530\/ERC-19-0024","article-title":"Genotype-phenotype correlations in pheochromocytoma and paraganglioma: a systematic review and individual patient meta-analysis","volume":"26","author":"J Crona","year":"2019","journal-title":"Endocr Relat 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