1. Multifocal Paraganglioma and Pheochromocytoma Due to Truncated SDHD Mutation.
- Author
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Zuo, Yuzhi, Li, Xiaoxin, Wu, Xingcheng, Zhou, Jing, Wang, Jianyi, Wang, Jing, Wu, Zhihong, Li, Hanzhong, and Zhang, Xuebin
- Subjects
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PARAGANGLIOMA , *PHEOCHROMOCYTOMA , *NEURAL crest , *CHROMAFFIN cells , *SUCCINATE dehydrogenase , *GENOTYPES , *GENETICS , *ADRENAL tumors , *DIAGNOSTIC imaging , *DNA , *EAR tumors , *GENES , *GENETIC disorders , *GENETIC techniques , *INNER ear , *MATHEMATICAL models , *MOLECULAR structure , *MULTIPLE tumors , *GENETIC mutation , *OXIDOREDUCTASES , *RNA , *THEORY , *SEQUENCE analysis , *HEREDITARY cancer syndromes - Abstract
Objective: Pheochromocytoma and paraganglioma (PPGL) are rare autosomal dominant disorders derived from the neural crest chromaffin tissues of the autonomic nervous system. The succinate dehydrogenase complex subunit D (SDHD) gene has been implicated as one of the pathogenic genes. Although more than 100 SDHD mutations have been reported, the phenotype-genotype association remains unclear.Methods: We reported a case of a patient who presented with multifocal PPGLs and with a rare SDHD mutation, and reviewed the phenotype-genotype association of SDHD.Results: We identified a pathogenic variant of SDHD (c.170-1G>T, NM_003002.3), which caused the complete deletion of exon 3 in the transcript and resulted in a shorter and unstable SDHD mRNA. And truncated SDHD mutations were prone to cause multifocal PPGL, whereas missense SDHD mutations usually caused unifocal lesions.Conclusion: This is the first report linking the c.170-1G>T variant to multifocal tumors. We recommend whole-body imaging examinations and close, regular follow-up for these patients, given the risk of multifocal tumor development. [ABSTRACT FROM AUTHOR]- Published
- 2018
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