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      https://www.ias.ac.in/article/fulltext/jbsc/030/03/0371-0376

    • 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

    • 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.

    • Author Affiliations

       

      T Parija1 S Shirley2 S Uma3 K R Rajalekshmy4 S Ayyappan5 T Rajkumar1

      1. Department of Molecular Oncology, Cancer Institute (WIA), Adyar, Chennai - 600 020, India
      2. Department of Pathology, Cancer Institute (WIA), Adyar, Chennai - 600 020, India
      3. Department of Biochemistry, Cancer Institute (WIA), Adyar, Chennai - 600 020, India
      4. Department of Immunology/Hematology, Cancer Institute (WIA), Adyar, Chennai - 600 020, India
      5. Department of Surgical Oncology, Cancer Institute (WIA), Adyar, Chennai - 600 020, India
    • Dates

       
  • Journal of Biosciences | News

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