Metastatic Paraganglioma of the Spine With SDHB Mutation: Case Report and Review of the Literature

Abstract

Background: Paragangliomas (PGLs) are rare neuroendocrine tumors that can arise from any autonomic ganglion of the body. Most PGLs do not metastasize. Here, we present a rare case of metastatic PGL of the spine in a patient with a germline pathogenic succinate dehydrogenase subunit B (SDHB) mutation. Methods: In addition to a case report we provide a literature review of metastatic spinal PGL to highlight the importance of genetic testing and long-term surveillance of these patients. Results: A 45-year-old woman with history of spinal nerve root PGL, 17 years prior, presented with back pain of several months' duration. Imaging revealed multilevel lytic lesions throughout the cervical, thoracic, and lumbar spine as well as involvement of the right mandibular condyle and clavicle. Percutaneous biopsy of the L1 spinal lesion confirmed metastatic PGL and the patient underwent posterior tumor resection and instrumented fusion of T7-T11. Postoperatively the patient was found to have a pathogenic SDHB deletion. Conclusions: Patients with SDHx mutation, particularly SDHB, have increased risk of developing metastatic PGLs. Consequently, these individuals require long-term surveillance given the risk for developing new tumors or disease recurrence, even years to decades after primary tumor resection. Surgical management of spinal metastatic PGL involves correcting spinal instability, minimizing tumor burden, and alleviating epidural cord compression. In patients with metastatic PGL of the spine, genetic testing should be considered.

Surgical Treatment of Spinal Metastatic Pheochromocytoma and Paraganglioma: A Single Institutional Cohort of 18 Patients

“…4,6 Spinal involvement is rare and was sporadically reported. [8][9][10][11][12][13][14][15][16][17] Currently, there is no mature guideline on the treatment of metastatic spinal PPGLs. Surgical resection is the treatment of choice for the spinal lesions, and a complete resection remains the goal of surgery, which, however, is hard to achieve due to the complex anatomic structures, adjacent to vital organs and heavy bleeding due to hypervascularity.…”

Clinical features and treatment of spinal metastatic pheochromocytoma and paraganglioma: a single institutional experience with 18 patients

“…The common metastases include lymph nodes, liver, lung, urinary systems and bone [4,6]. Spinal involvement is rare and was sporadically reported [8][9][10][11][12][13][14][15][16][17].Currently, no mature guideline on the treatment of metastatic spinal PPGLs exists.Surgical resection is the treatment of choice for the spinal lesions, and a complete resection remains the goal of surgery, which, however, is hard to achieve due to the complex anatomic structures, adjacent to vital organs and heavy bleeding due to hypervascularity [4,7,16,18]. In the present study, we retrospectively reviewed the patients who were consecutively treated in our spinal center and described their clinical features and surgical outcomes.…”

Commentary: En Bloc Resection of a Cauda Equina Paraganglioma and Associated Intradural Hematoma After Diagnosis of Renal Clear Cell Carcinoma: 2-Dimensional Operative Video

“…17 In addition, patients with paraganglioma with a SDHx mutation are more likely to demonstrate metastatic potential. 18 This is reflected in the current Endocrine Society guidelines that “suggest patients with paraganglioma undergo testing of succinate dehydrogenase (SDH) mutations.” 10 The presented patient's genetic testing results would be informative and possibly of clinical benefit. Nevertheless, the authors showcase an interesting example of the relationship between paragangliomas and renal cell carcinoma.…”