R27X nonsense mutation of the SDHB gene in a patient with sporadic malignant paraganglioma
| Autor: | Tamiko Tamanaha, Sachiko-Tsukamoto Kawashima, Manabu Kurosawa, Tetsuya Tagami, Takeshi Usui, Akira Shimatsu, Mitsuhide Naruse, Hanae Hagiwara, Takashi Kimura, Masaki Naito, Hitomi Iogawa |
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| Rok vydání: | 2009 |
| Předmět: |
Male
Pathology medicine.medical_specialty SDHB Endocrinology Diabetes and Metabolism Nonsense mutation Neoplasms Multiple Primary Paraganglioma Pheochromocytoma Endocrinology Peripheral Nervous System Neoplasms Biopsy medicine Humans Malignant Paraganglioma Fluorodeoxyglucose biology medicine.diagnostic_test business.industry Chromogranin A Middle Aged medicine.disease Succinate Dehydrogenase Codon Nonsense Positron-Emission Tomography biology.protein business medicine.drug |
| Zdroj: | Endocrine. 36:10-15 |
| ISSN: | 1559-0100 1355-008X |
| Popis: | It has been estimated that approximately 10% of pheochromocytomas and paragangliomas are part of a hereditary syndrome. Recent studies, however, suggest that the genetic involvement in pheochromocytoma/paraganglioma is actually far more common. Here, we report a case of malignant paraganglioma with no apparent family history. A 59-year-old man was referred to our services because of multiple abdominal masses. Plasma and urine adrenalin and noradrenalin levels were slightly elevated, and plasma dopamine and urine vanillylmandelic acid levels were remarkably elevated. Abdominal and chest computed tomography revealed multiple masses in the para-aortic region and in both lungs. Although (131)I-meta iodobenzylguanidine scintigraphy did not show significant uptake in these tumors, a 6-[(18)F]fluorodeoxyglucose positron emission tomographic scanning study showed multiple areas of uptake corresponding to the tumors. Biopsy of the tumors revealed paraganglioma with chromogranin A-immunopositive cells. Genetic analysis indicated a nonsense mutation at codon 27 of the SDHB gene. As recently described, SDHB mutations may cause extra-adrenal and malignant paragangliomas, such as in the present case. |
| Databáze: | OpenAIRE |
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