Duplication of the mutant RET allele in trisomy 10 or loss of the wild-type allele in multiple endocrine neoplasia type 2-associated pheochromocytomas

Steve C. Huang, Christian A. Koch, Alexander O. Vortmeyer, Svetlana D. Pack, Urs D. Lichtenauer, Poonam Mannan, Irina A. Lubensky, George P. Chrousos, Robert F. Gagel, Karel Pacak, Zhengping Zhuang

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Abstract

Inherited mutations of the RET proto-oncogene are tumorigenic in patients with multiple endocrine neoplasia type 2 (MEN 2). However, it is not understood why only few of the affected cells in the target organs develop into tumors. Genetic analysis of nine pheochromocytomas from five unrelated patients with MEN 2 showed either duplication of the mutant RET allele in trisomy 10 or loss of the wild-type RET allele. Our results suggest a 'second hit' causing a dominant effect of the mutant RET allele, through either duplication of the mutant allele or loss of the wild-type allele, as a possible mechanism for pheochromocytoma tumorigenesis in patients with MEN 2.

Original languageEnglish (US)
Pages (from-to)6223-6226
Number of pages4
JournalCancer Research
Volume60
Issue number22
StatePublished - Jan 1 2000

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ASJC Scopus subject areas

  • Oncology
  • Cancer Research

Cite this

Huang, S. C., Koch, C. A., Vortmeyer, A. O., Pack, S. D., Lichtenauer, U. D., Mannan, P., Lubensky, I. A., Chrousos, G. P., Gagel, R. F., Pacak, K., & Zhuang, Z. (2000). Duplication of the mutant RET allele in trisomy 10 or loss of the wild-type allele in multiple endocrine neoplasia type 2-associated pheochromocytomas. Cancer Research, 60(22), 6223-6226.