Do somatic RET mutations represent a phenomenon of tumor progression?

C. A. Koch, S. C. Huang, A. O. Vortmeyer, G. P. Chrousos, K. Pacak, Z. Zhuang

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


Objective: To elucidate tumorigenesis of MEN 2-related tumors. Data Collection: We analyzed MEN 2A-related pheochromocytomas and found one tumor with a somatic RET mutation in exon 10 in addition to a RET germline mutation in exon 11. Importantly, this tumor had loss of the wild-type RET sequence in exon 11, leading to a dominant effect of mutant RET. Together with another tumor that had also loss of the wild-type RET sequence and with other pheochromocytomas that had duplication of mutant RET in trisomy 10, the latter mechanisms may be responsible for tumor initiation, leaving additional somatic RET mutations, especially when occuring on the same allele, as tumor progression phenomenon. Conclusion: MEN 2-related tumors develop through germline mutations of RET. Although the precise mechanisms of tumorigenesis are not entirely clear, somatic RET mutations seem to play a role in tumor progression rather than in tumor initiation.

Original languageEnglish (US)
Pages (from-to)140-145
Number of pages6
JournalCurrent Opinion in Clinical Experimental Research
Issue number3
StatePublished - Jan 1 2001
Externally publishedYes


  • Medullary thyroid carcinoma
  • Multiple endocrine neoplasia type 2
  • Pheochromocytoma
  • RET

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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