Surgical approach to rare case of recurrent pheochromocytoma and bones metastatic paraganglioma

Background. Paraganglioma/Pheochromocytoma (PGL/PCC) are neuroendocrine tumors characterized by association of paraganglioma and pheochromocytoma. PGLPCC are caused by mutations in a series of genes involved in cell metabolism. These genetic conditions can be both sporadics or less frequently hereditaries, usually diagnosed in younger patients. PCC-PGL incidence is about 1 in 300,000. PGL type 4 represents 5% of all PCC-PGL, it's related to SDHB mutations and has higher risk for malignancy than the other types. Malignancy is defined by presence of metastases that arise in sites devoid of chromaffin tissue such as bone. Malignant PGLs are extremely rare. Case presentation. The patient is a 37-year-old-female affected by paraganglioma in left paravertebral region and pheochromocytoma in the left adrenal gland (PPGL type 4). Pheocromocytoma was suspected after sporadic episode of hypertensive crisis and in 2012 a diagnosis was obtained. Genetic analysis were performed and showed mutation of SDHB gene. The patient underwent a left adrenalectomy to remove left pheochromocytoma. In October 2016 laboratory tests and instrumental exams showed recurrence of pheochromocytoma in left adrenal loggia, a metastases involving D10 and other small osteolytic areas spread in vertebral column and other bones. Meantime the patient complained lumbar and intercostal pain, blood pressure was always in normal range. A surgical intervention of nerve decompression was needed urgently. Our intervention consisted in metastasis excision with apposition of bone cement and stabilization of column through polyaxial pedicle screw and bar. Outcomes. After surgery the patient showed improvement of symptoms, after two months was reported a regression of pain. Discussion. Our case report is a rare example of malignant PGLPCC with pheochromocytoma recurrence and paraganglioma metastatic lesions spread in bones (specially in vertebral column) and other organs whereas PGL4 is generally benignant. Few are similar cases described in literature. In particular our report is exceptional for the multiples metastatic lesions spread in bones like sternum, right femurs, iliac wings and vertebras. This case confirmed that the surgery plays a significant role in the management of malignant PGLPCC. Our case remarks the need to carefully follow this kind of patients after diagnosis both to identify recurrence and/or secondary localizations of disease. Strict control of a set of markers in the blood flow is cost-effective and primary. Our case confirm the need, in these rare cases, to perform MIBG scintigraphy and PET total body in addition to standard imaging techniques to improve our ability to recognize recurrences when suspected. We recommend a multidisciplinar approach to ensure rapid recognition of disease and to choose the most appropriate treatment. For this reason it is demanding to report these cases to better understand this rare disease and all its multiple forms. © 2018 CIC Edizioni Internazionali s.r.l.. All rights reserved. SciVal Topic Prominenc