An apparently sporadic paraganglioma with an SDHB gene germline mutation presenting at age 68 years.
Paragangliomas (PGLs) are rare tumours arising from parasympathetic-associated paraganglia (particularly of the head and neck) or from sympathetic-associated paraganglia such as in the adrenal medulla when they are termed phaeochromocytomas and at extra-adrenal sites in the abdomen and thorax. Recent reports have found frequent germline mutations of VHL, RET, SDHB or SDHD not only in familial cases but also in apparently sporadic cases of phaeochromocytoma. These germline mutations are particularly likely to be found if multifocal disease is present or if the phaeochromocytoma or PGL occurs at a young age. We report a germline splice site mutation in SDHB in a patient presenting with an incidental, apparently sporadic, abdominal sympathetic PGL at 68 years of age.
Elston
M S
MS
Department of Endocrinology, Waikato Hospital, Hamilton, New Zealand.
Benn
D
D
Robinson
B G
BG
Conaglen
J V
JV
D000008:Abdominal Neoplasms / Q000175:diagnosis / Q000235:genetics*; D000368:Aged; D044963:Biopsy, Fine-Needle; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics*; D005500:Follow-Up Studies; D018095:Germ-Line Mutation; D006801:Humans; D007506:Iron-Sulfur Proteins / Q000235:genetics*; D008297:Male; D010236:Paraganglioma, Extra-Adrenal / Q000175:diagnosis / Q000235:genetics*; D021122:Protein Subunits / Q000235:genetics*; D013385:Succinate Dehydrogenase / Q000235:genetics*; D014057:Tomography, X-Ray Computed
D004273:DNA, Neoplasm; D007506:Iron-Sulfur Proteins; D021122:Protein Subunits; C108095:SDHB protein, human; D013385:Succinate Dehydrogenase