O-037 - CAROTID BODY PARAGANGLIOMA - GENETICS AND CLINICAL RECOMMENDATIONS

TOPIC:
Other
AUTHORS:
Erhart P. (Department of Vascular and Endovascular Surgery ~ Heidelberg ~ Germany) , Körfer D. (Department of Vascular and Endovascular Surgery ~ Heidelberg ~ Germany) , Böckler D. (Department of Vascular and Endovascular Surgery ~ Heidelberg ~ Germany)
Introduction:
Paraganglioma of the head- and neck region are rare tumors occurring sporadically or due to hereditary predisposition. Risk of malignancy, metastasis, multilocular appearance and recurrences represent challenging aspects in medical care of these patients. This presentation should highlight the genetical background and illustrate an algorithm for diagnostics, treatment and follow-up of carotid body paragangliomas.
Methods:
64 patients treated for carotid body paraganglioma from 1990 - 2022 were investigated for genetical diagnostics and clinical follow up. Gene panel diagnostics for the paraganglioma/ pheochromocytoma syndrome incorporating 11 candidate genes was performed to identify hereditary variants mainly within the SDH (succinate dehydrogenase) genes. An interdisciplinary algorithm was used for diagnostics, treatment and follow-up of these patients.
Results:
Mean age at disease onset was 47 years (37 females, 27 males). Familial hereditary was detected in approx. 21 % of cases with positive familial history for paraganglioma or other associated malignant diseases. Paternal genomic imprinting was a common finding in affected families. Genetical diagnostics mainly detected pathogenic variants in SDHA, SDHB, SDHC and SDHD genes. Complete surgical excision without pre-operative embolization was the primary way of treatment. Follow-up investigations did not detect recurrence after complete surgical excision but metachronous multilocular (2 cases) or contralateral (3 cases) disease manifestation. A high incidence of other malignant disease is frequently observed in families with hereditary paragangliomas. Endocrinological and radiological follow-up investigations including whole-body magnetic resonance tomography or F18 Dopa-PET computed tomography surveillance should be recommend for low-risk individuals every 5 years and every 2 years in high-risk patients.
Conclusion:
Low- and high-risk patients can be identified based on genetical findings in addition to pathological investigations of tumour tissue. An interdisciplinary team should perform long-term surveillance and genetical diagnostics and family counselling should be offered to all patients with carotid body paraganglioma. Cancer screening programs are essential for patients with hereditary paraganglioma as other malignancies occur.