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Diagnostic value of the molecular genetic detection of the t(11;22) translocation in Ewing's tumours

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Abstract

One consistent feature of the Ewing's tumour family is the presence of a balanced translocation involving band q12 and band q24 of chromosome 22 and chromosome 11. Recent cloning of the chromosome breakpoint regions of t(11;22)(q24;q12) Ewing's sarcoma translocation has revealed that the breakpoints were localized within the Ewing's sarcoma gene (EWS gene) on chromosome 22 and the Fli-1 gene on chromosome 11. Molecular genetic techniques can thus be applied to the detection of the t(11;22) translocation in Ewing's tumours. By reverse transcription and polymerase chain reaction technique (RT-PCR) 11 Ewing's tumour derived cell lines, 12 primary Ewing's tumours, and 11 tumours after treatment were analysed for the occurence of the t(11;22) translocation. Furthermore, blood and bone marrow samples from 5 patients were available for RT-PCR. In 78% of the cell lines and 91% of the primary Ewing's tumours the t(11;22) translocation was detectable by RT-PCR. In bone marrow samples from a Ewing's sarcoma patient presenting in relapse tumour cells were detected by molecular genetic analysis. Our results indicate that molecular genetic detection of the t(11;22) translocation is valuable in the differential diagnosis of small round cell tumours and will provide important information for the staging and prognosis of Ewing's tumour.

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Authors and Affiliations

  1. Gerhard Domagk Institute of Pathology, Westfälische Wilhelms-University, D-48149, Münster, Germany

    B. Dockhorn-Dworniczak, K.-L. Schäfer, R. Dantcheva, S. Blasius & W. Böcker

  2. Department of Pediatric Hematology and Oncology, Heinrich Heine University, Düsseldorf, Germany

    S. Burdach

  3. Children's Cancer Research Institute (CCRI), St. Anna Kinderspital, Vienna, Austria

    S. Strehl

  4. Department of Orthopedic Surgery, Westfälische Wilhelms University, Münster, Germany

    W. Winkelmann

  5. Department of Pediatric Hematology and Oncology, Westfälische Wilhelms University, Münster, Germany

    F. van Valen & H. Jürgens

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  1. B. Dockhorn-Dworniczak
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  2. K.-L. Schäfer
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Dockhorn-Dworniczak, B., Schäfer, KL., Dantcheva, R. et al. Diagnostic value of the molecular genetic detection of the t(11;22) translocation in Ewing's tumours. Vichows Archiv A Pathol Anat 425, 107–112 (1994). https://doi.org/10.1007/BF00230345

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  • DOI: https://doi.org/10.1007/BF00230345

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