Abstract
Paragangliomas are rare tumours with a prevalence of 1/10000 to 1/30000. Tumors arising from the paraganglia are characteristically of low malignant potential. Vertebral metastases are exceedingly rare, and only isolated case reports have described them. The authors present the clinical course of a 47 years-old female patient with a familial paraganglioma [PGL] with vertebral metastastization, who underwent an intralesional tumor excision and corpectomy. Genetic screening demonstrated a new germinal frameshift mutation of the SDHB exon 6 [c.587-591DelC]. After surgery there was normalization of the analytical parameters and imagiologic screening. One year later she presented a new image in the the pedicle of T11 on the contralateral side of the surgical incision. She performed 2 treatments with MIBG and 1 cicle of radiotherapy that made the new lesion regress. Currently the patient does not present any clinical or analytical evidence of new metastasis.This case outlines the clinical course of a patient with a PGL syndrome for whom a rare vertebral metastasis was diagnosed. It highlights the importance of identifying patients with germline SDHB mutations, as these patients are at a high risk of developing malignant disease.
Highlights
The paragangliomas/pheochromocytomas are rare tumours with a prevalence of 1/10000 to 1/30000 [1]
Several studies have suggested that patients who are carriers of the SDHB mutation [PGL type 4], like the patient we describe, are more likely to develop extra-adrenal lesions [abdominal or thoracic] and malignant disease [10]
This case outlines the clinical course of a patient with a PGL type 4 syndrome for whom a rare vertebral metastasis was diagnosed
Summary
The paragangliomas/pheochromocytomas are rare tumours with a prevalence of 1/10000 to 1/30000 [1]. The patient underwent a new surgical removal of the tumor Pathologic report confirmed this to be a local metastasis of the previous paraganglioma. In the current case the patient presented one local recidiva and a distant metastasis 9 and 10 years after the initial diagnosis, respectively In both situations it was decided that the patient was eligible for surgical treatment with curative intention because these were always isolated lesions at the time of diagnosis [13]. The fact that the patient presented only a solitary metastasis was the reason the authors chose to pursuit a surgical exertion, in an attempt to perform a curative treatment It was taken under consideration the fact that metastatic paraganglioma, like pheochromocytoma, is relatively radioresistant, as compared with lymphoma and breast cancer [13]. The patient's direct family was offered genetic screening, having been diagnosed 5 positive patients, and one already died of metastatic pheocromocytoma [17]
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