Malignant paraganglioma caused by a novel germline mutation of the succinate dehydrogenase D-gene--a case report.
BACKGROUND
Paragangliomas of the head and neck are rare, mostly benign tumors. Approximately 10% to 15% of paragangliomas are caused by mutations in the succinate dehydrogenase (SDH) genes B, C, or D. These are often multifocal as part of paraganglioma syndromes and hormone secreting, and malignant particularly associated with mutations in SDHB.


RESULTS
A 29-year-old man was seen with recurrent paraganglioma. The patient's father reportedly suffered from bilateral carotid body tumors. Imaging studies showed metastases in both lungs and the liver. There was no increased hormone production by the tumor. Sequence analysis of the SDH genes revealed a novel C to T nonsense mutation in the first exon of the SDHD gene (R17X).


CONCLUSIONS
A novel mutation in the SDHD gene associated with malignant paraganglioma is reported. This case underscores the relevance of family history and genetic analysis, thus permitting early detection of unaffected carriers. These have to be monitored clinically, biochemically and by imaging techniques.
Papaspyrou
Konstantinos
K
Department of Otorhinolaryngology, Johannes Gutenberg-University Medical School, Mainz, Germany. papaspyrou@hno.klinik.uni-mainz.de
Rossmann
Heidi
H
Fottner
Christian
C
Weber
Matthias M
MM
Mann
Wolf
W
Lackner
Karl J
KJ
Helling
Kai
K
D000328:Adult; D001707:Biopsy, Needle; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D009367:Neoplasm Staging; D010235:Paraganglioma / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D010375:Pedigree; D049268:Positron-Emission Tomography; D018570:Risk Assessment; D019292:Skull Base Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D013385:Succinate Dehydrogenase / Q000235:genetics*; D016312:Treatment Refusal
D013385:Succinate Dehydrogenase