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J Biosci ; 2005 Jun; 30(3): 371-6
Article Dans Anglais | IMSEAR | ID: sea-111269

Résumé

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.


Sujets)
Adolescent , Adulte , Enfant , Chromosomes humains de la paire 11 , Chromosomes humains de la paire 22 , Femelle , Humains , Inde , Mâle , Adulte d'âge moyen , Tumeurs neuroectodermiques primitives périphériques/classification , Protéines de fusion oncogènes/génétique , Sarcome d'Ewing/classification , Facteurs de transcription/génétique , Translocation génétique
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