Nové metody klasifikace a prognostifikace u paragangliomů a pheochromocytomů

Guha, Anasuya

Pheochromocytomas and paragangliomas are rare, mostly benign neuroendocrine tumors. Head and neck paragangliomas (HNPGLs) are extra-adrenal counterparts of pheochromocytomas, representing 3% of all head and neck tumors. These can occur as sporadic tumors or as part of a hereditary syndromes. Studies reporting HNPGLs in Czech Republic have been limited. We conducted a systematic review to ascertain gene mutations that are directly linked to HNPGLs. We also studied the phenotypic-genotypic profiles as well as treatment outcomes of HNPGLs. Genetic analysis was performed in Czech Republic and in collaboration with Bethesda, USA. Our review showed that ten genes contribute to the development of HNPGLs when mutated. Familial forms of the disease are most commonly associated with the SDHD gene. SDHB mutations are predisposed to malignant tumors. We assessed 30 patients (11 males; 19 females) of 34-80 years of age at our clinic between 2016 and 2021. Amongst all patients, 24 had solitary tumors and 6 showed multiple tumors. Jugular paragangliomas were the most frequently diagnosed HNPGL. Only 11.5% of all examined patients were positive for SDHD germline mutation; 50% of our younger patients with bilateral carotid body tumors had the SDHD mutation. Four patients with negative family history were diagnosed...

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