Multiple head and neck paragangliomas (HNPGLs) are neuroendocrine tumors of a mostly benign nature that can be associated with a syndrome, precipitated by the presence of a germline mutation. Familial forms of the disease are usually seen with mutations of SDHx genes, especially the SDHD gene. SDHB mutations are predisposed to malignant tumors. We found 6 patients with multiple tumors amongst 30 patients with HNPGLs during the period of 2016 to 2021. We discuss the phenotypic and genetic patterns in our patients with multiple HNPGLs and explore the management possibilities related to the disease. Fifty percent of our patients had incidental findings of HNPGLs. Twenty-one biochemically silent tumors were found. Four patients had germline mutations, and only one had a positive family history. Three out of five underwent surgery without permanent complications. Preventative measures (genetic counselling and tumor surveillance) represent the gold standard in effectively controlling the disease in index patients and their relatives. In terms of treatment, apart from surgical and radiotherapeutic interventions, new therapeutic measures such as gene targeted therapy have contributed very sparsely. With the lack of standardized protocols, management of patients with multiple HNPGLs still remains very challenging, especially in those with sporadic or malignant forms of the disease.

Department of Biology and Medical Genetics 1st Faculty of Medicine Charles University and General University Hospital 128 00 Prague Czech Republic

Department of Internal Medicine 1st Faculty of Medicine Charles University and General University Hospital 128 08 Prague Czech Republic

Department of Otorhinolaryngology 3rd Faculty of Medicine Charles University and University Hospital Kralovske Vinohrady 100 34 Prague Czech Republic

Department of Pediatric Hematology and Oncology 2nd Faculty of Medicine Charles University and University Hospital Motol 150 06 Prague Czech Republic

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High incidence of occult familial SDHD cases amongst Czech patients with head and neck paragangliomas

Head and Neck Paragangliomas in the Czech Republic: Management at the Otorhinolaryngology Department