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Molecular characterization of a 17q11.2 translocation in a malignant schwannoma cell line

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Abstract

Malignant schwannomas are soft-tissue neoplasms that occur at increased frequency with germline alterations of the neurofibromatosis-1 (NF1) gene at 17q11.2. We report molecular and cytogenetic characterization of a malignant schwannoma cell line established from an individual affected with NF1. This cell line has a complex hyperdiploid karyotype with two cytogenetically identical der(13)t(13;17)(p11,q11.2) chromosomes. Using somatic cell hybrids, we mapped twelve chromosome-17 probes to either the der(13)t(13;17) chromosome or a small der(17) chromosome. Two chromosome-17p loci, including the p53 tumor suppressor gene, were present in the schwannoma cell line, but did not map to either of these chromosomes. Loss of heterozygosity studies indicated that the two der(13)t(13;17) chromosomes arose by duplication, presumably after the translocation event. The 17q11.2 translocation breakpoint maps distal to the NF1 gene, and may not disrupt its functioning. Although NF1 mRNA was detected in this cell line by polymerase chain reaction, Northern blot analysis revealed very little or none of the 13-kb mature NF1 transcript. This suggests that the single remaining allele of the NF1 gene contains a mutation that results in either greatly reduced transcription or message instability.

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Authors and Affiliations

  1. Department of Human Genetics, Medical College of Virginia, Virginia Commonwealth University, 23298, Richmond, VA, USA

    Jennifer E. Reynolds & Scott R. Diehl

  2. Department of Pathology, Brigham and Woman's Hospital and Harvard Medical School, 02115, Boston, MA, USA

    Jonathan A. Fletcher & Cynthia C. Morton

  3. Department of Pediatric Oncology, Dana-Farber Cancer Institute, Division of Hematology-Oncology, The Children's Hospital, 02115, Boston, MA, USA

    Jonathan A. Fletcher

  4. Department of Pediatrics, Harvard Medical School, 02115, Boston, MA, USA

    Jonathan A. Fletcher

  5. Department of Psychiatry, Medical College of Virginia, Virginia Commonwealth University, 23298, Richmond, VA, USA

    Christian H. Lytle, Li Nie & Scott R. Diehl

Authors
  1. Jennifer E. Reynolds
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  2. Jonathan A. Fletcher
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  3. Christian H. Lytle
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  4. Li Nie
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  5. Cynthia C. Morton
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  6. Scott R. Diehl
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Reynolds, J.E., Fletcher, J.A., Lytle, C.H. et al. Molecular characterization of a 17q11.2 translocation in a malignant schwannoma cell line. Hum Genet 90, 450–456 (1992). https://doi.org/10.1007/BF00220476

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  • DOI: https://doi.org/10.1007/BF00220476

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