Type 1 (11; 22)(q24: q12) translocation is common in Ewing’s sarcoma/ peripheral neuroectodermal tumour in south Indian patients
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.
KeywordsDesmoplastic 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
Unable to display preview. Download preview PDF.
- Aurias A, Rimbaut C, Buffe D, Dubousset J and Mazarabad A1983 Chromosomal translocations in Ewing’s sacoma;N. Engl. J. Med. 309 496–497Google Scholar
- de Alava Eand Gerald W L J 2000 Molecular biology of Ewing’ s sarcoma/primitive neuroectodermal tumor family;Clin. Oncol. 18 204–213Google Scholar
- de Alava E, Kawai A, Healey J H, Fligman I, Meyers P A, Huvos A G, Gerald W L, Jhanwar S C, Argani P, Antonescu C R, Pardo-Mindass F J, Ginsberg J, Womer R, Lawlor E R, Wunder J, Andrulis I, Sorensen P H, Barr F G and Ladyani M 1998 EWS-FLI 1 fusion transcript is an independent determinant of prognosis in Ewing’s sarcoma;J. Clin. Oncol. 16 1248–1255PubMedGoogle Scholar
- Delattre O, Zucman J, Melot T, Garau X S, Zucker J-M, Lenoir G M, Ambross P F, Sheer D, Turc-Carel C, Triche T J, Aurias A and Thomas G 1994 The Ewing family of tumors — a subgroup of small-round-cell tumors defined by specific chimeric transcripts;New. Engl. J. Med. 331 294–299PubMedCrossRefGoogle Scholar
- Dowing J R, Head D R, Parham D M, Dougalss E C, Hulshof M G, Link M P, Motroni T A, Grier H E and Shapiro D N 1993 Detection of the (11; 22)(q 24; q 12) translocation of Ewing’s’ sarcoma peripheral neuroectodermal tumor by reverse transcription polymerase chain reaction;Am. J. Pathol. 143 1294–1300Google Scholar
- Levy E R and Herrington C S 1995Non-isotopic methods in molecular biology — A practical approach (IRL Press)Google Scholar
- Stevenson A J, Chatten J, Bertoni F and Miettinen M1994 CD 99 (p30/32 MIC 2) neuroectodermal/Ewing’s’ sarcoma antigen as an IHC marker. Review of more than 600 tumors and the literature experience;Appl. Immunohistochem. 2 231–240Google Scholar