| Autor: |
da Silva Manuel Eduardo, Carvalho Manuel João Queiroz de Fariados Santos, Rodrigues António Pedro, Neves Nuno Silva, Gonçalves António, Pinto Rui Alexandre, Carvalho Davide |
| Jazyk: |
angličtina |
| Rok vydání: |
2012 |
| Předmět: |
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| Zdroj: |
Hereditary Cancer in Clinical Practice, Vol 10, Iss 1, p 12 (2012) |
| Druh dokumentu: |
article |
| ISSN: |
1897-4287 |
| DOI: |
10.1186/1897-4287-10-12 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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