Endocrine

, Volume 36, Issue 1, pp 10–15

R27X nonsense mutation of the SDHB gene in a patient with sporadic malignant paraganglioma

  • Masaki Naito
  • Takeshi Usui
  • Tamiko Tamanaha
  • Sachiko-Tsukamoto Kawashima
  • Hitomi Iogawa
  • Hanae Hagiwara
  • Takashi Kimura
  • Tetsuya Tagami
  • Manabu Kurosawa
  • Akira Shimatsu
  • Mitsuhide Naruse
Case Report

DOI: 10.1007/s12020-009-9204-0

Cite this article as:
Naito, M., Usui, T., Tamanaha, T. et al. Endocr (2009) 36: 10. doi:10.1007/s12020-009-9204-0

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 described, SDHB mutations may cause extra-adrenal and malignant paragangliomas, such as in the present case.

Keywords

ParagangliomaSDHBMalignantSporadic

Copyright information

© Springer Science+Business Media, LLC 2009

Authors and Affiliations

  • Masaki Naito
    • 1
  • Takeshi Usui
    • 1
    • 2
  • Tamiko Tamanaha
    • 1
  • Sachiko-Tsukamoto Kawashima
    • 1
  • Hitomi Iogawa
    • 1
  • Hanae Hagiwara
    • 1
  • Takashi Kimura
    • 1
  • Tetsuya Tagami
    • 1
    • 2
  • Manabu Kurosawa
    • 3
  • Akira Shimatsu
    • 1
    • 2
  • Mitsuhide Naruse
    • 1
    • 2
  1. 1.Department of Endocrinology and MetabolismNational Hospital Organization, Kyoto Medical CenterKyotoJapan
  2. 2.Clinical Research Institute Center for Endocrine and Metabolic Diseases, National Hospital Organization, Kyoto Medical CenterKyotoJapan
  3. 3.Department of Diagnostic Pathology, Graduate School of MedicineKyoto UniversityKyotoJapan