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J Med Genet 2005;42:e48 doi:10.1136/jmg.2005.031708
  • Electronic letters

cDNA microarray analysis assists in diagnosis of malignant intrarenal pheochromocytoma originally masquerading as a renal cell carcinoma

  1. M Takahashi1,
  2. X J Yang2,
  3. S McWhinney3,
  4. N Sano4,
  5. C Eng5,
  6. S Kagawa1,
  7. B T Teh6,
  8. H-O Kanayama1
  1. 1Department of Urology, The University of Tokushima, School of Medicine, 3-18-15 Kuramoto-cho, Tokushima 770-8503, Japan
  2. 2Departments of Pathology and Surgery/Urology, University of Chicago, 5841 South Maryland Avenue, Chicago, IL 60637, USA
  3. 3Human Cancer Genetics Program, Comprehensive Cancer Center, Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA
  4. 4Department of Pathology, The University of Tokushima, School of Medicine, 3-18-15 Kuramoto-cho, Tokushima 770-8503, Japan
  5. 5Clinical Cancer Genetics Program, Comprehensive Cancer Center, Division of Human Genetics, Department of Internal Medicine and Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA
  6. 6Laboratory of Cancer Genetics, Van Andel Research Institute, 333 Bostwick Avenue, N.E., Grand Rapids, MI 49503, USA
  1. Correspondence to:
 Dr B T Teh
 Laboratory of Cancer Genetics, Van Andel Research Institute, 333 Bostwick Avenue NE, Grand Rapids, MI 49503, USA; bin.tehvai.org
  • Received 4 February 2005
  • Accepted 24 March 2005
  • Revised 22 March 2005

Abstract

Intrarenal pheochromocytoma (paraganglioma) is a very rare tumour. Its diagnosis is often difficult to establish because of its rarity and its histological similarity to renal cell carcinoma (RCC). Recently, we examined the molecular signatures of different subtypes of kidney tumours by using cDNA microarray. The signature pattern for one tumour, which was originally diagnosed as granular cell RCC, was clearly distinct from that of any other subtype of kidney tumour, and led us to re-evaluate the case. Haematoxylin and eosin staining revealed histological features suggestive of pheochromocytoma, and immunohistochemical studies showed positive staining for neuroendocrine markers but not for keratin. A germline missense mutation, D119E, in the familial paraganglioma related gene succinate dehydrogenase subunit D (SDHD), was subsequently identified. The treatment modality was revised and radiotherapy was given, to which the patient responded, leading to a reduction in tumour size of 25% within the first month. To our knowledge, this is the first report of an intrarenal pheochromocytoma that was diagnosed with the assistance of cDNA microarray analysis.

Footnotes

  • Competing interests: none declared

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