Publikationsserver der Universitätsbibliothek Marburg
Titel:Klinische und molekulargenetische Charakterisierung von Phäochromozytomen und Paragangliomen
Autor:Galan, Raluca Simona
Weitere Beteiligte: Kann, Peter H. (Prof. Dr. Dr. )
Veröffentlicht:2012
URI:https://archiv.ub.uni-marburg.de/diss/z2012/0558
URN: urn:nbn:de:hebis:04-z2012-05581
DOI: https://doi.org/10.17192/z2012.0558
DDC:610 Medizin
Titel (trans.):Clinical and Molecular Genetic Characterisation of Pheochromocytomas and Paragangliomas
Publikationsdatum:2012-10-05
Lizenz:https://rightsstatements.org/vocab/InC-NC/1.0/

Dokument

Schlagwörter:
Nebennierenkrankheit, Adrenalin, Paraganglioma, Genmutation, Genetik, Angiomatosis retinae, MEN <Adenopathie>, SDHB-Gene, Paragangliom, VHL-Gene, SDHB-Gene, P, Gen Ret, Pheochromocytoma, RET-Gene, Phäochromozytom, Neurofibromatose

Zusammenfassung:
Phäochromozytome können sporadisch oder im Rahmen von hereditären Syndromen mit Mutationen verschiedener Gene vorkommen. Solche Mutationen wurden auf dem RET-Gen für das MEN 2-Syndrom, auf dem VHL-Gen für das VHL-Syndrom, auf dem NF1-Gen für das NF1-Syndrom, sowie im Bereich des SDHB-, SDHC- und SDHD-Gens, und neuerlich auch im Bereich des SDHAF2- und TMEM127-Gens für das PG-1 bis -4 Syndrom identifiziert. Das Ziel dieser Arbeit war ein repräsentatives Marburger Patientengut mit Phäochromozytomen und extraadrenalen Paragangliomen zusammenzustellen und mit den verfügbaren molekulargenetischen Methoden zu charakterisieren. Es wurden vor allem das RET-Gen mit den Exons 10, 11, 13-16 sowie die Gene VHL, SDHB und SDHD mit allen Exons untersucht. Im Rahmen dieser Arbeit wurden die Fälle von insgesamt 30 Patienten mit Phäochromozytomen und/oder extraadrenalen Paragangliomen mit ihrem klinischen und molekulargenetischen Befund ausführlich dargestellt. Dieser Vorgang hat eine vielschichtige Genotyp-Phänotyp-Analyse der betroffenen Patienten möglich gemacht. Unter anderen wurde das Spektrum hinsichtlich Alter, Geschlecht, Produktion von Katecholaminen, Lokalisation, Zahl und Dignität der Tumoren analysiert, aber auch die Penetranz und die Expressivität der Mutationen und die Variabilität der klinischen Manifestationen bei den verschiedenen Syndromen. Es wurde einschließlich über die Indikation für eine genetische Untersuchung bei Patienten mit Phäochromozytom oder Paragangliom und bei ihren Angehörigen sowie über effektive Screening-Algorithmen diskutiert. Von Bedeutung ist auch die Genotyp-Phänotyp-Analyse hinsichtlich der Dignität der Tumoren. Sowohl benigne als auch maligne Phäochromozytomen und Paragangliome im Rahmen von Syndromen wurden in der Arbeit berichtet. Die Träger einer SDHB-Mutation verdienen aufgrund des höheren Risikos für Malignität eine besondere Aufmerksamkeit. Zu erwähnen sind auch die ungewöhnlichen Phänotypen, zum Beispiel im Sinne von ACTH-produzierenden Phäochromozytomen, die noch weitere Fragen bezüglich der Tumorpathogenese der Phäochromozytome und Paragangliome aufwerfen. Die Relevanz der molekulargenetischen Untersuchung für die Patienten mit Phäochromozytomen oder Paragangliomen und ihre Angehörigen bleibt unbestreitbar. Das MEN 2-Syndrom gehört zu den wenigen erblichen Krebserkrankungen, bei dem eine frühzeitige prophylaktische Operation im Sinne einer totalen Thyreoidektomie eine sichere kurative Therapie des C-Zell-Karzinoms bei jungen Mutationsträger möglich macht. Bei den mutationsfreien Angehörigen verzichtet man dann auf die regelmäßige kostenpflichtige laborchemische und bildgebende Diagnostik. Zusammengefasst scheint das klinische Bild der möglichen syndromalen Manifestationen genauso komplex und variabel wie das Spektrum der zugrunde liegenden Mutationen zu sein. Anhand der erfassten Daten dieser Arbeit könnten jedoch effiziente molekulargenetische Untersuchungen von Patienten mit Phäochromozytomen und Paragangliomen sowie eine Optimierung der klinischen Betreuung und Diagnostik der Betroffenen im Rahmen von Vorsorge- und Nachsorgeuntersuchungen ermöglicht werden.

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