Novel mdm2 splice variants identified in pediatric rhabdomyosarcoma tumors and cell lines

Oncol Res. 2001;12(11-12):451-7. doi: 10.3727/096504001108747459.

Abstract

Mdm2 is an oncogene that binds to and inactivates the tumor suppressor p53. However, the presence of oncogenic splice variants of mdm2 in human tumors that lack the p53 binding site has suggested a p53-independent transforming function for this protein. This report describes expression of 11 different mdm2 splice variants in pediatric rhabdomyosarcoma (RMS) cell lines and tumors at a frequency of 75% and 82%, respectively. Five of these isoforms have previously been described in other tumor histiotypes but six are novel and may be unique to RMS. There was no association between expression of splice variants and mdm2 gene amplification or p53 status. In addition, the frequency of splice variants was much higher than the incidence of mdm2 amplification or p53 mutations. These variants may be important to consider with respect to RMS tumor progression and therapeutic response.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alternative Splicing*
  • Blotting, Northern
  • Child
  • Genetic Variation*
  • Humans
  • Neoplasm Proteins / genetics
  • Neoplasm Staging
  • Nuclear Proteins*
  • Oncogenes
  • Proto-Oncogene Proteins / genetics*
  • Proto-Oncogene Proteins c-mdm2
  • RNA, Neoplasm / genetics
  • Reverse Transcriptase Polymerase Chain Reaction
  • Rhabdomyosarcoma / genetics*
  • Rhabdomyosarcoma / pathology
  • Tumor Cells, Cultured

Substances

  • Neoplasm Proteins
  • Nuclear Proteins
  • Proto-Oncogene Proteins
  • RNA, Neoplasm
  • MDM2 protein, human
  • Proto-Oncogene Proteins c-mdm2