Phäochromozytom: Diagnostik und Therapie

Zusammenfassung

Phäochromozytome (P) sind seltene katecholamin produzierende neuroendokrine Tumore mit Ursprung in den chromaffinen Zellen der Nebennieren bzw. in 15 % im extraadrenalen chromaffinen Gewebe. Letztere werden als Paragangliome (PGL) bezeichnet. Aufgrund der Sekretion der Katecholamine Adrenalin, Noradrenalin und Dopamin besteht die Gefahr lebensbedrohlicher hypertensiver Krisen. Die derzeit beste Methode zur biochemischen Diagnostik ist die Bestimmung der Katecholaminmetabolite Metanephrin, Normetanephrin und mittlerweile auch Methoxytyramin im Plasma mit chromatografischen Verfahren in Kombination mit massenspektrometrischer Analyse. In ca. 30–40 % der Fälle liegt eine genetisch determinierte Erkrankung vor. Daher kommt der zielgerichteten genetischen Diagnostik eine größere Bedeutung zu als in der Vergangenheit angenommen. Mittlerweile sind 11 Suszeptibilitätsgene bekannt. Anhand des biochemischen Musters der Katecholaminmetabolite in der Synopsis mit den klinischen Befunden, der Tumorlokalisation, der Tumorgröße, dem Alter des Patienten und dem Vorhandensein von Metastasen kann eine gezielte genetische Diagnostik erfolgen. Therapie der Wahl ist die Operation, vorzugsweise mit minimal invasiven Verfahren, nach medikamentöser Vorbehandlung mit einem Alpha-Rezeptorblocker.

Abstract

Pheochromocytomas (P) are rare catecholamine producing neuroendocrine tumors originating from the chromaffin cells of the adrenal medulla or in 15 % of cases from extra adrenal chromaffin tissue and termed paragangliomas (PGL). Because of secretion of the catecholamines – adrenaline, noradrenaline and dopamine – the tumors are dangerous with a risk of life threating hypertensive crises. Measurements of plasma metanephrine, normetanephrine and methoxytyramine by liquid chromatography with tandem mass spectrometry provides the most accurate and precise method for biochemical diagnosis. Approximately 30–40 % of the tumors have a hereditary background due to mutations of 11 known susceptibility genes, with identification facilitated by targeted genetic testing according to clinical presentation. Apart from syndrome-dependent clinical stigmata, other hints to an underlying mutation can be provided by biochemical profiles of the catecholamine metabolites, tumor location, patient age and presence of metastatic disease. Surgery with minimal invasive procedures is the recommended therapeutic way after pretreatment with an alpha receptor blocking medication.

Schlüsselwörter

Phäochromozytom - Paragangliom - neuroendokrine Tumoren

Keywords

pheochromocytoma - paraganglioma - neuroendocrine tumors

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