R27X nonsense mutation of the SDHB gene in a patient with sporadic malignant paraganglioma.
It has been estimated that approximately 10% of pheochromocytomas and paragangliomas are part of a hereditary syndrome. Recent studies, however, suggest that the genetic involvement in pheochromocytoma/paraganglioma is actually far more common. Here, we report a case of malignant paraganglioma with no apparent family history. A 59-year-old man was referred to our services because of multiple abdominal masses. Plasma and urine adrenalin and noradrenalin levels were slightly elevated, and plasma dopamine and urine vanillylmandelic acid levels were remarkably elevated. Abdominal and chest computed tomography revealed multiple masses in the para-aortic region and in both lungs. Although (131)I-meta iodobenzylguanidine scintigraphy did not show significant uptake in these tumors, a 6-[(18)F]fluorodeoxyglucose positron emission tomographic scanning study showed multiple areas of uptake corresponding to the tumors. Biopsy of the tumors revealed paraganglioma with chromogranin A-immunopositive cells. Genetic analysis indicated a nonsense mutation at codon 27 of the SDHB gene. As recently described, SDHB mutations may cause extra-adrenal and malignant paragangliomas, such as in the present case.
Department of Endocrinology and Metabolism, National Hospital Organization, Kyoto Medical Center, Kyoto, Japan.
Masaki
M
Naito
Takeshi
T
Usui
Tamiko
T
Tamanaha
Sachiko-Tsukamoto
ST
Kawashima
Hitomi
H
Iogawa
Hanae
H
Hagiwara
Takashi
T
Kimura
Tetsuya
T
Tagami
Manabu
M
Kurosawa
Akira
A
Shimatsu
Mitsuhide
M
Naruse
D018389:Codon, Nonsense; D006801:Humans; D008297:Male; D008875:Middle Aged; D009378:Neoplasms, Multiple Primary / Q000000981:diagnostic imaging / Q000235:genetics*; D010235:Paraganglioma / Q000000981:diagnostic imaging / Q000235:genetics*; D010524:Peripheral Nervous System Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics*; D049268:Positron-Emission Tomography; D013385:Succinate Dehydrogenase / Q000235:genetics*
D018389:Codon, Nonsense; C108095:SDHB protein, human; D013385:Succinate Dehydrogenase