A Large Deletion in the Succinate Dehydrogenase B Gene (SDHB) in a Japanese Patient with Abdominal Paraganglioma and Concomitant Metastasis
| Autor: | Yasushi Kawakami, Kazumasa Isobe, Hitomi Kodama, Takahiro Okamoto, Kazuhiro Takekoshi, Sumiko Nissato, Masatoshi Iihara |
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| Rok vydání: | 2010 |
| Předmět: |
Adult
Heterozygote SDHB Endocrinology Diabetes and Metabolism Biology medicine.disease_cause Polymerase Chain Reaction Pheochromocytoma Norepinephrine Exon Catecholamines Endocrinology Paraganglioma Para-Aortic Bodies medicine Humans Malignant Paraganglioma Multiplex ligation-dependent probe amplification Neoplasm Metastasis Promoter Regions Genetic Paraganglioma Extra-Adrenal Mutation Liver Neoplasms DNA Exons Sequence Analysis DNA medicine.disease Normetanephrine Succinate Dehydrogenase Hypertension Cancer research Female SDHD Neoplasm Recurrence Local Tomography X-Ray Computed Gene Deletion |
| Zdroj: | Endocrine Journal. 57:351-356 |
| ISSN: | 1348-4540 0918-8959 |
| DOI: | 10.1507/endocrj.k09e-324 |
| Popis: | Recently, mutations in nuclear genes encoding two mitochondrial complex II subunit proteins, Succinate dehydrogenase D (SDHD) and SDHB, have been found to be associated with the development of familial pheochromocytomas and paragangliomas (hereditary pheochromocytoma/paraganglioma syndrome: HPPS). Growing evidence suggests that the mutation of SDHB is highly associated with abdominal paraganglioma and the following distant metastasis (malignant paraganglioma). In the present study, we used multiplex ligation dependent probe amplification (MLPA) analysis to identify a large heterozygous SDHB gene deletion encompassing sequences corresponding to the promoter region, in addition to exon 1 and exon 2 malignant paraganglioma patient in whom previously characterized SDHB mutations were undetectable. This is the first Japanese case report of malignant paraganglioma, with a large SDHB deletions. Our present findings strongly support the notion that large deletions in the SDHB gene should be considered in patients lacking characterized SDHB mutations. |
| Databáze: | OpenAIRE |
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