Type 1 (11;22)(q24:q12) translocation is common in Ewing's sarcoma/peripheral neuroectodermal tumour in south Indian patients

J Biosci. 2005 Jun;30(3):371-6. doi: 10.1007/BF02703674.

Abstract

The Ewing's sarcoma family can present diagnostic difficulties. In the past the basis of diagnosis has been a exclusion. Identification of a specific translocation especially t(11;22) (EWS-FLI 1 fusion gene), which is seen in nearly 85 percent of Ewing's sarcoma cases can help in precise diagnosis. We have carried out a study on twenty patient samples diagnosed to have Ewing's sarcoma/peripheral neuroectodermal tumour (PNET)/small round cell malignant tumour. The study involved RT-PCR analysis for the fusion transcript, followed by sequencing to identify the specific type of fusion. Ninety percent (18/20) of the samples tested were found to be t(11;22) translocations involving EWS-FLI 1 genes. Sixty-one percent (11/18) were found to be type 1 fusion and seven were type 2 (39 percentage). This is the first study in India with quantitative information about the types of EWS-FLI 1 translocations present in Ewing's family of tumours in south Indian patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Chromosomes, Human, Pair 11*
  • Chromosomes, Human, Pair 22*
  • Female
  • Humans
  • India
  • Male
  • Middle Aged
  • Neuroectodermal Tumors, Primitive, Peripheral / classification*
  • Neuroectodermal Tumors, Primitive, Peripheral / diagnosis
  • Neuroectodermal Tumors, Primitive, Peripheral / genetics*
  • Oncogene Proteins, Fusion / genetics
  • Proto-Oncogene Protein c-fli-1
  • RNA-Binding Protein EWS
  • Sarcoma, Ewing / classification*
  • Sarcoma, Ewing / diagnosis
  • Sarcoma, Ewing / genetics*
  • Transcription Factors / genetics
  • Translocation, Genetic*

Substances

  • EWS-FLI fusion protein
  • Oncogene Proteins, Fusion
  • Proto-Oncogene Protein c-fli-1
  • RNA-Binding Protein EWS
  • Transcription Factors