Unusual genetic aberrations including a deletion of KLF6 tumor suppressor gene revealed by integrated cytogenetic approaches in a pediatric ewing sarcoma

J Pediatr Hematol Oncol. 2015 Jan;37(1):e51-4. doi: 10.1097/MPH.0000000000000081.

Abstract

Ewing sarcoma is the third most common sarcoma in children and young adults. Its characteristic chromosomal rearrangement results in a chimerical EWSR1-ETS transcription factor. Secondary genetic alterations are very common. Membranous expression of CD99 is seen in almost all tumors. We report 2 unusual cytogenetic findings in a pediatric Ewing sarcoma, an insertion of the MIC2 gene encoding CD99 from Xp to 10p and a submicroscopic deletion of the well-known tumor supressor gene KLF6. The latter has not been described previously in pediatric neoplasms. Molecular pathways in tumorigenesis and genetic complexity in cancer are discussed.

Publication types

  • Case Reports

MeSH terms

  • 12E7 Antigen
  • Antigens, CD / genetics
  • Bone Neoplasms / genetics*
  • Cell Adhesion Molecules / genetics
  • Child
  • Gene Deletion*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Kruppel-Like Factor 6
  • Kruppel-Like Transcription Factors / genetics*
  • Male
  • Proto-Oncogene Proteins / genetics*
  • Sarcoma, Ewing / genetics*

Substances

  • 12E7 Antigen
  • Antigens, CD
  • CD99 protein, human
  • Cell Adhesion Molecules
  • KLF6 protein, human
  • Kruppel-Like Factor 6
  • Kruppel-Like Transcription Factors
  • Proto-Oncogene Proteins