PSUN27 Largest Cohort of Cervical Spine Metastases of Pheochromocytoma/Paraganglioma in the Setting of SDHB Mutation

BACKGROUND: Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors arising from chromaffin cells in adrenal or extra-adrenal locations, respectively. Overall, 10 to 20% of PPGLs are metastatic, with higher metastatic potential observed in succinate dehydrogenase subunit B (SDHB)-related tumors (up to 90%). Metastatic PPGLs are diagnosed based on the presence of tumor cells of chromaffin origin in a location outside the site of normal development (adrenal medulla and the sympathetic chain) in the bones and lymphatic nodes per 2017 WHO guidelines. Studies evaluating both metastatic pheochromocytomas and extra-adrenal PGLs have reported bone to be the most common site of metastasis. CLINICAL CASE: We reviewed the metastatic patients in our PPGL cohort and found 40 (29.85%) out of 134 patients with SDHB-related metastatic PPGLs developing metastatic lesions in the cervical spine. The related descriptive analyses were as follows: 25 (62.5%) were males, 15 (37.5%) females. Fourteen patients (35%) have died due to metastatic PPGL complications. The average age of patients at the time of the primary tumor diagnosis was 30.3 ± 35 years and the age at the initial metastatic tumor diagnosis was 34 ± 33 years. The average time interval to metastatic disease was 7.4 ± 38 years. At their initial presentation, there were 25 (62.5%) patients with solitary tumors; 1 (2.5%) with multiple primary tumors; and 14 (35%) with metastatic tumors. All the patients either developed or had metastatic lesions in the cervical vertebrae. Nine (22.5%) patients required surgical fusions of the vertebrae to manage their pathological fractures and another 9 (22.5%) patients received radiation therapy. CONCLUSION: Genetic testing is recommended for all patients with PPGLs. Genetic analysis, especially finding a SDHB mutation may be helpful in determining metastatic potential. Most patients with spinal metastatic lesions are asymptomatic, but when clinical symptoms arise, the most common clinical symptom involves pain and neurological deficit. Metastasis to the spine is an important complication that can lead to significant pain and disability and requires surgical interventions or radiotherapy. Awareness for such spinal tumors is essential for offering the correct treatment to the patients. Presentation: Sunday, June 12, 2022 12:30 p.m. - 2:30 p.m.