Publication at Faculty of Science, First Faculty of Medicine, Second Faculty of Medicine |
2010
Abstract
Paraganglioma is a rare tumor that can be found in the abdomen, thorax, and in the head and neck region. We describe the case of a female patient harbouring a globular paraganglioma of the right upper mediastinum.
A novel nucleotide change c. 589_600dup (p. Cys196 Cys200dup) in exon 6 of the SDHB gene was found in the proband.
Interestingly, the same four-codon duplication was found in her older sister and her father. This case illustrates the importance of genetic testing of patients suffering from paraganglioma.