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Laryngorhinootologie 2011; 90: S56-S82
DOI: 10.1055/s-0030-1270447
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© Georg Thieme Verlag KG Stuttgart · New York

Paragangliome und Paragangliomsyndrome

Paragangliomas and Paraganglioma SyndromesC. C. Boedeker1
  • 1Universitätsklinik für Hals-, Nasen- und Ohrenheilkunde und Poliklinik, Freiburg, (Direktor: Professor Dr. med. Dr. h.c. R. Laszig)
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Publication Date:
26 April 2011 (online)

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Zusammenfassung

Paragangliome stellen zumeist gutartige Neubildungen der Paraganglien vegetativer Nerven dar. Sie gehören zur Gruppe der neuroendokrinen Tumoren und weisen eine ausgeprägte Vaskularisation auf. Im Kopf-Hals Bereich treten sie am häufigsten als Glomus caroticum Tumoren auf. Jugulotympanale und insbesondere vagale Paragangliome werden seltener beobachtet. Die vollständige chirurgische Entfernung stellt den einzigen kurativen Therapieansatz dar. Operationen an lokal fortgeschrittenen Paragangliomen gehen topografiebedingt jedoch mit dem nicht zu unterschätzenden Risiko einer Invalidisierung durch Funktionbeeinträchtigung der in unmittelbarer Nachbarschaft liegenden Hirnnerven und Gefäße einher. Ungefähr 30% aller Kopf-Hals Paragangliome sind assoziiert mit verschiedenen Tumorsyndromen. Die Paragangliomsyndrome 1, 3 und 4, verursacht durch Mutationen der Gene SDHD, SDHC und SDHB (Untereinheiten D, C und B der Succinatdehydrogenase) stehen hierbei zahlenmäßig eindeutig im Vordergrund. Multiple Paragangliome, maligne paraganglionäre Tumoren und das gemeinsame Auftreten von Paragangliomen und Phäochromozytomen werden sowohl bei SDHB als auch bei SDHD Patienten regelmäßig beobachtet. Das Risiko, ein malignes Paragangliom oder Phäochromozytom zu entwickeln ist für Patienten mit SDHB Mutationen jedoch signifikant höher, als für SDHD Patienten. SDHC Patienten hingegen erkranken fast ausschließlich an solitären, benignen Kopf-Hals Paragangliomen. Der Vererbungsmodus ist für alle 3 Syndrome autosomal dominant. SDHD Patienten leiden jedoch nur dann unter dem erhöhten Risiko einer Entwicklung paraganglionärer Tumoren, wenn sie die Mutation durch ihren Vater geerbt haben („parent-of-origin-dependent-inheritance”). Wir empfehlen ein molekulargenetisches Screening von Paragangliompatienten auf Mutationen im Bereich der Gene SDHB, SDHC und SDHD. Anhand diverser klinischer Parameter kann festgelegt werden, in welcher Reihenfolge eine Testung der genannten Gene sinnvollerweise erfolgen sollte, um unnötige Kosten zu vermeiden.

Abstract

Paragangliomas and Paraganglioma Syndromes

Paragangliomas are rare tumors of neural crest origin. They are benign in the majority of cases and are characterized by a strong vascularisation. In the head and neck region they most commonly occur as carotid body tumors. Jugulotympanic and especially vagal paragangliomas are seen less frequently. Complete surgical resection represents the only curative treatment option even though resection of locally advanced tumors regularly results in lesions of the lower cranial nerves and major vessels. Approximately 30% of all head and neck paragangliomas (HNPs) are hereditary and associated with different tumor syndromes. The paraganglioma syndromes 1, 3 and 4 (PGL 1, 3 and 4) make up the majority of those familial cases. PGL 1 is associated with mutations of the succinate dehydrogenase subunit D (SDHD) gene, PGL 3 is caused by SDHC and PGL 4 by SDHB gene mutations. Multiple HNPs and the occurance of HNPs together with pheochromocytomas are seen in SDHD as well as SDHB mutation carriers. In patients with SDHB mutations the risk for the development of malignant paraganglial tumors is significantly higher compared to SDHC and SDHD patients as well as patients with sporadic tumors. SDHC mutation carriers almost exclusively present with benign HNPs that are unifocal in the majority of cases. The role of transmission is autosomal dominant for all 3 symptoms. Interestingly, there is a “parent-of-origin-dependent-inheritance” in subjects with SDHD gene mutations. This means that the disease phenotype may only become present if the mutation is inherited through the paternal line. We recommend screening for mutations of the genes SDHB, SDHC and SDHD in all patients with HNPs. Certain clinical parameters can help to set up the order in which the 3 genes should be tested.

Schlüsselwörter

Paragangliom - Glomustumor - Phäochromozytom - Paragangliomsyndrom - seltene Erkrankungen

Key words

paraganglioma - glomus tumor - pheochromocytoma - paraganglioma syndrome - rare diseases

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Korrespondenzadresse

PD Dr. med. Carsten Christof Boedeker

Universitätsklinik für Hals-

Nasen- und Ohrenheilkunde

und Poliklinik

Killianstraße 5

79106 Freiburg

Email: carsten.boedeker@uniklinik-freiburg.de

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