Journal of Biosciences

, Volume 30, Issue 3, pp 371–376 | Cite as

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

  • T. Parija
  • S. Shirley
  • S. Uma
  • K. R. Rajalekshmy
  • S. Ayyappan
  • T. Rajkumar
Article

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% 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%). 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.

Keywords

Desmoplastic small round cell tumour Ewing’s sarcoma EWS-FLI 1 PNET small round cell tumour south Indian patients t(11, 22) translocation type 1 and type 2 fusion 

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Copyright information

© Indian Academy of Sciences 2005

Authors and Affiliations

  • T. Parija
    • 1
  • S. Shirley
    • 2
  • S. Uma
    • 3
  • K. R. Rajalekshmy
    • 4
  • S. Ayyappan
    • 5
  • T. Rajkumar
    • 1
  1. 1.Department of Molecular OncologyCancer Institute (WIA)ChennaiIndia
  2. 2.Department of PathologyCancer Institute (WIA)ChennaiIndia
  3. 3.Department of BiochemistryCancer Institute (WIA)ChennaiIndia
  4. 4.Department of Immunology/HematologyCancer Institute (WIA)ChennaiIndia
  5. 5.Department of Surgical OncologyCancer Institute (WIA)ChennaiIndia

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