Detailed assessment of chromosome 22 aberrations in sporadic pheochromocytoma using array-CGH

Caroline Jarbo, Patrick G. Buckley, Arkadiusz Piotrowski, Kiran K. Mantripragada, Magdalena Benetkiewicz, Teresita Diaz De Ståhl, Cordelia F. Langford, Simon G. Gregory, Henning Dralle, Oliver Gimm, Martin Bäckdahl, Janos Geli, Catharina Larsson, Gunnar Westin, Göran Åkerström, Jan P. Dumanski

Research output: Contribution to journalArticlepeer-review

21 Scopus citations


Pheochromocytoma is a predominantly sporadic neuroendocrine tumor derived from the adrenal medulla. Previous low resolution LOH and metaphase-CGH studies reported the loss of chromosomes 1p, 3q, 17p and 22q at various frequencies. However, the molecular mechanism(s) behind development of sporadic pheochromocytoma remains largely unknown. We have applied high-resolution tiling-path microarray-CGH with the primary aim to characterize copy number imbalances affecting chromosome 22 in 66 sporadic pheochromocytomas. We detected copy number alterations on 22q at a frequency of 44%. The predominant finding was monosomy 22 (30%), followed by terminal deletions in 8 samples (12%) and a single interstitial deletion. We further applied a chromosome 1 tiling-path array in 1 tumors with terminal deletions of 22q and found deletions of 1p in all cases. Our overall results suggest that at least 2 distinct regions on both 22q and 1p are important in the tumorigenesis of sporadic pheochromocytoma. A large proportion of pheochromocytomas also displayed indications of cellular heterogeneity. Our study is to our knowledge the first array-CGH study of sporadic pheochromocytoma. Future analysis of this tumor type should preferably be performed in the context of the entire human genome using genome-wide array-CGH, which is a superior methodological approach. Supplemental material for this article can be found on the International Journal of Cancer website at

Original languageEnglish (US)
Pages (from-to)1159-1164
Number of pages6
JournalInternational Journal of Cancer
Issue number5
StatePublished - Mar 1 2006
Externally publishedYes


  • Amplifications
  • Chromosome 1
  • Deletions
  • Genomic microarray
  • PTCH2
  • Tiling-path array
  • Tumor heterogeneity

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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