title: Type 1 (11;22)(q24:q12) translocation is common in Ewing's sarcoma/peripheral neuroectodermal tumour in south Indian patients.
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.
authors.affiliation: Department of Molecular Oncology, Cancer Institute (WIA), Adyar, Chennai 600 020, India.
authors.forename: T
authors.initials: T
authors.lastname: Parija
authors.forename: S
authors.initials: S
authors.lastname: Shirley
authors.forename: S
authors.initials: S
authors.lastname: Uma
authors.forename: K R
authors.initials: KR
authors.lastname: Rajalekshmy
authors.forename: S
authors.initials: S
authors.lastname: Ayyappan
authors.forename: T
authors.initials: T
authors.lastname: Rajkumar
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002880:Chromosomes, Human, Pair 11; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D018241:Neuroectodermal Tumors, Primitive, Peripheral / Q000145:classification* / Q000175:diagnosis / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D051789:Proto-Oncogene Protein c-fli-1; D034802:RNA-Binding Protein EWS; D012512:Sarcoma, Ewing / Q000145:classification* / Q000175:diagnosis / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics; D014178:Translocation, Genetic
chemical_list: C106031:EWS-FLI fusion protein; D015514:Oncogene Proteins, Fusion; D051789:Proto-Oncogene Protein c-fli-1; D034802:RNA-Binding Protein EWS; D014157:Transcription Factors