title: A large deletion in the succinate dehydrogenase B gene (SDHB) in a Japanese patient with abdominal paraganglioma and concomitant metastasis.
abstract: 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.
authors.affiliation: Departments of Endocrine Surgery, Tokyo Women' s Medical University, Tokyo, Japan.
authors.forename: Hitomi
authors.initials: H
authors.lastname: Kodama
authors.forename: Masatoshi
authors.initials: M
authors.lastname: Iihara
authors.forename: Sumiko
authors.initials: S
authors.lastname: Nissato
authors.forename: Kazumasa
authors.initials: K
authors.lastname: Isobe
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Kawakami
authors.forename: Takahiro
authors.initials: T
authors.lastname: Okamoto
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Takekoshi
mesh_terms: D000328:Adult; D002395:Catecholamines / Q000097:blood; D004247:DNA / Q000097:blood / Q000737:chemistry; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D006973:Hypertension; D008113:Liver Neoplasms / Q000556:secondary; D009362:Neoplasm Metastasis; D009364:Neoplasm Recurrence, Local / Q000175:diagnosis; D009638:Norepinephrine / Q000097:blood; D009647:Normetanephrine / Q000652:urine; D010220:Para-Aortic Bodies; D010236:Paraganglioma, Extra-Adrenal / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic / Q000235:genetics; D017422:Sequence Analysis, DNA; D013385:Succinate Dehydrogenase / Q000235:genetics*; D014057:Tomography, X-Ray Computed
chemical_list: D002395:Catecholamines; D009647:Normetanephrine; D004247:DNA; C108095:SDHB protein, human; D013385:Succinate Dehydrogenase; D009638:Norepinephrine