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Die Pathologie
Erschienen in: Der Pathologe 3/2017

04.05.2017 | Astrozytom | Schwerpunkt: Hereditäre Tumorerkrankungen

Hereditäre Tumorsyndrome in der Neuropathologie

verfasst von: Prof. Dr. C. Mawrin

Erschienen in: Die Pathologie | Ausgabe 3/2017

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Zusammenfassung

Neubildungen im zentralen (ZNS) oder peripheren (PNS) Nervensystem bei hereditären Tumorsyndromen spielen in der neuropathologischen Diagnostik eine wichtige Rolle. Die bei den häufigen Neurofibromatosen Typ 1 (NF1) und 2 (NF2) auftretenden benignen oder malignen PNS- und ZNS-Tumoren stellen bei den Betroffenen oft wesentliche Faktoren für den Krankheitsverlauf dar. Weiterhin können bestimmte klinische Konstellationen (beidseitige Schwannome des N. vestibulocochlearis, Schwannome im jungen Lebensalter, multiple Meningeome) wichtige Anhaltspunkte für eine bis dahin nicht diagnostizierte hereditäre Tumorerkrankung sein. Andere Tumoren treten nahezu regelhaft im Zusammenhang mit bestimmten Keimbahndefekten auf (subependymales Riesenzellastrozytom bei tuberöser Sklerose, dysplastisches Gangliozytom des Kleinhirns beim Cowden-Syndrom) und können bei Diagnosestellung Ausgangspunkt einer weitergehenden humangenetischen Beratung sein. Dies ist nicht nur wichtig, da viele Keimbahndefekte auf Neumutationen beruhen, sondern auch aus der inzwischen etablierten gezielten Therapie bestimmter Tumoren (z. B. Hemmung des Mammalian-target-of-rapamycin[mTOR]-Signalwegs mithilfe von Temsirolimus beim subependymalen Riesenzellastrozytom [SEGA]). Weiterhin ist die Kenntnis über die bei hereditären Tumorsyndromen mögliche Konstellation genetischer Mosaike mit den daraus resultierenden (inkompletten) Syndrommanifestationen hilfreich. Der vorliegende Übersichtsartikel stellt die wichtigsten hereditären Tumorsyndrome mit Beteiligung von PNS und ZNS zusammen.
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Metadaten
Titel
Hereditäre Tumorsyndrome in der Neuropathologie
verfasst von
Prof. Dr. C. Mawrin
Publikationsdatum
04.05.2017
Verlag
Springer Medizin
Erschienen in
Die Pathologie / Ausgabe 3/2017
Print ISSN: 2731-7188
Elektronische ISSN: 2731-7196
DOI
https://doi.org/10.1007/s00292-017-0292-y

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