Endocrine Abstracts

Introduction: Paraganglioma (PGL) develops from cells of the parasympathetic and sympathetic system. It usually manifests as a slow- growing and painless mass. PGL may be hereditary, benign, malignant, unilateral or bilateral tumors. In most cases PGL is located around the common carotid artery but may also be located within the middle ear or in the abdomen. Non functional retroperitoneal PGL are rare tumors, usually asymptomatic, and can attain big dimensions. Mutations in the succinate dehydrogenase gene complex have been identified as a cause of inherited Pheocromocytoma-Paraganglioma Syndrome (PGL/PCC). Malignant PGL is a uncommon presentation diagnosed by local recurrence after total resection of primary mass or findings of distant metastases.

Case report: A 47 years-old woman with a non functional retroperitoneal PGL. A large pararenal tumor was removed completely. No distant metastases were found in imaging studies. After a follow up period of 10 months the patient was in a good health, asymptomatic, but a second operation was performed because of evidence of tumor recurrence. After surgery the patient was treated with Radiotherapy. Genetic analysis revealed succinate dehydrogenase B mutation in our patient (and subsequently in two of her three children.)

Conclusions: The malignant potential of the PGL is determined by local invasion as well as distant metastases as there are no characteristic cellular changes. In retroperitoneal PGL 50% are thought to be malignant. The SDHB mutation plays an important role in malignant PCC/PGL. The present case indicates that conducting genetic testing, including SDHB mutation analyses, is required to determine the prognosis in patients highly suspected of having malignant tumors in the context of a PGL/PCC Syndrome.