Article


Rare vertebral metastasis in a case of Hereditary Paraganglioma


Manuel Eduardo R da Silva1 António Pedro C Rodrigues1 , Nuno Silva M Neves1 , António M Gonçalves1


*, Manuel João Queiroz de Fariados Santos Carvalho1 , Rui Alexandre P Pinto1


, and Davide Carvalho2 * Corresponding author: Manuel Eduardo R da Silva manuelrisilva@gmail.com 1Spine Group, Orthopaedic Department, Hospital São João, Porto Medical School, 4200, Porto, Portugal 2Endocrinology, Diabetes and Metabolism Department, Centro Hospitalar S. João, Porto Medical School, 4200, Porto, Portugal


Hereditary Cancer in Clinical Practice 2012, 10:12 doi:10.1186/1897-4287-10-12 © 2012 Ribeiro da Silva et al.; licensee BioMed Central Ltd.


Abstract


Paragangliomas are rare tumours with a prevalence of 1/10000 to 1/30000. Tumours 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 clini- cal course of a 47years-old female patient with a familial paraganglioma [PGL] with vertebral metastastisation, who underwent an intralesional tumour excision and corpectomy. Genetic screening demonstrated a new germinal frameshift mutation of the SDHB exon 6 [c.587-591DelC]. After surgery there was normalisation 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.


Keywords Familiar Paraganglioma; Vertebral Metastisation; SDHB


Background


The paragangliomas/pheochromocyto- mas are rare tumours with a prevalence of 1/10000 to 1/300001


. The sympathetic-


associated paragangliomas [PGL] arise from the adrenal medulla or from the sympathetic ganglia that extend along the paravertebral axis from the neck to the ab- domen and pelvis. These tumours are usu- ally functionally active and secrete either catecholamines or metanephrines.


The


parasympathetic-associated paraganglio- mas arise in the head and neck region and middle mediastinum, and are usually non- functioning. The term pheochromocytoma is commonly used for a tumour located in the adrenal gland2


.


Hereditary cases represent 35% of all pheochromocytoma


and paraganglioma and are associated with gene mutations. 20 | SpinalSurgeryNews | Autumn 2012


All cases display an autosomal dominant inheritance pattern with incomplete pen- etrance and variable expression3,4


.


Tumours arising from the paraganglia are characteristically of low malignant po- tential, with only 10% developing distant spread. The great majority of metastasis- ing tumours has evidence of distant spread at diagnosis. Fifty percent are located at the cervical lymph nodes, and the others are evenly distributed among bone, lung and liver. Vertebral metastases are exceed- ingly rare, and only isolated case reports have described them5


. The authors present the clinical course


of a 47 years-old female patient with a familial paraganglioma, for whom an un- usual vertebral metastasis was identified and treated.


Case presentation 37 years-old caucasian female, without known diseases until 1997, when she complains of headaches, restless feeling, anxiety and palpitations, symptoms that she attributes to stress. Routine screening showed hypertension that was resistant to medical treatment. Laboratory analy- ses demonstrated an elevation in the 24 h dosage of vanilmandelic acid [VMA]: 52 mg/24 h [N: 1.4 – 6.5]; epinephrine: 21 μg/24 h [N 0–20]; norepinephrine: 3161 μg/24 h [N: 23–105]; dopamine: 711 μg/24 h [N: 65–400]; metanephrine: 91 μg/24 h [N: 52–341]; normetanephrine: 3546 μg/24 h [N 88–444]. Abdominal CT showed a 5.2 cm mass in the region of the left adrenal gland, with a corresponding hyperfixation in the MIBG scintigraphy. She underwent surgery for exploration and


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