R27X nonsense mutation of the SDHB gene in a patient with sporadic malignant paraganglioma
- PDF / 399,920 Bytes
- 6 Pages / 595.276 x 790.866 pts Page_size
- 35 Downloads / 209 Views
CASE REPORT
R27X nonsense mutation of the SDHB gene in a patient with sporadic malignant paraganglioma Masaki Naito Æ Takeshi Usui Æ Tamiko Tamanaha Æ Sachiko-Tsukamoto Kawashima Æ Hitomi Iogawa Æ Hanae Hagiwara Æ Takashi Kimura Æ Tetsuya Tagami Æ Manabu Kurosawa Æ Akira Shimatsu Æ Mitsuhide Naruse
Received: 22 September 2008 / Accepted: 10 April 2009 / Published online: 5 May 2009 Ó Humana Press 2009
Abstract 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 131I-meta iodobenzylguanidine scintigraphy did not show significant uptake in these tumors, a 6-[18F]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
M. Naito T. Usui T. Tamanaha S.-T. Kawashima H. Iogawa H. Hagiwara T. Kimura T. Tagami A. Shimatsu M. Naruse Department of Endocrinology and Metabolism, National Hospital Organization, Kyoto Medical Center, Kyoto, Japan T. Usui (&) T. Tagami A. Shimatsu M. Naruse Clinical Research Institute Center for Endocrine and Metabolic Diseases, National Hospital Organization, Kyoto Medical Center, 1-1 Mukaihata-cho Fukakusa Fushimi-ku, Kyoto 612 8555, Japan e-mail: [email protected] M. Kurosawa Department of Diagnostic Pathology, Graduate School of Medicine, Kyoto University, Kyoto, Japan
described, SDHB mutations may cause extra-adrenal and malignant paragangliomas, such as in the present case. Keywords Sporadic
Paraganglioma SDHB Malignant
Introduction Pheochromocytoma is a rare tumor of the adrenal gland, comprising less than 5% of all adrenal tumors [1]. Pheochromocytoma occurs sporadically or as part of an inherited multiple endocrine neoplasia type 2 (MEN2) syndrome or von Hippel–Lindau (VHL) disease [2–4]. RET protooncogene and VHL tumor suppressor genes are responsible for these two familial types of pheochromocytoma. In MEN2, most patients present with a phenotype of medullary thyroid carcinoma in addition to pheochromocytoma. In contrast, patients with VHL sometimes present with only the pheochromocytoma phenotype, which is recognized as type-2C VHL [5, 6]. NF1 gene mutations, which cause neurofibromatosis type I, also contribute to the development of pheochromocytoma [7, 8]. The development of
Data Loading...
