Frequency and Diversity of p53 Mutations in Childhood Rhabdomyosarcoma

Carolyn A. Felix, Cynthia Chavez Kappel, Gary D. Crouch, Lee J. Helman

Research output: Contribution to journalArticlepeer-review


The p53 gene was examined in primary or metastatic tumors from six patients with rhabdomyosarcoma (RMS) and in five RMS cell lines by screening methods including single-strand conformation polymorphism analysis, the RNase protection assay, sequencing of complementary DNÕ subclones, and Southern blotting. Six original tumors were of embryonal histology, four alveolar, and one mixed. p53 mutations were identified in four of the six tumors or cell lines derived from tumors with embryonal histology and in one of the four with alveolar histology. Consistent with p53 alãeleloss, each mutation was found in the homo- or hemizygous state. One tumor showed a G to C transversion at p53 codon 213 (arginine to proline), and another showed deletion of the entire gene. The p53 mutations in cell lines included a codon 248 C to T transition (arginine to tryptophan) in RD and a codon 280 A to T transversion (arginine to serine) in RH30. The cell line CTR contained a 4-base pair deletion at codons 219/220 in exon 6 with resultant frame shift and premature termination in exon 7. These data support the role of diverse types of p53 mutations in the pathogenesis and/or progression of a significant proportion of cases of childhood RMS.

Original languageEnglish (US)
Pages (from-to)2243-2247
Number of pages5
JournalCancer Research
Issue number8
StatePublished - Apr 1992

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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