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Case Reports
. 2012 May-Jun;31(3):142-5.
doi: 10.5414/np300451.

Identification of t(1;19)(q12;p13) and ploidy changes in an ependymosarcoma: a cytogenetic evaluation

Abeer Z Tabbarah  1 , Austin W Carlson, Angelica Oviedo, Rhett P Ketterling, Fausto J Rodriguez
Affiliations
Case Reports

Identification of t(1;19)(q12;p13) and ploidy changes in an ependymosarcoma: a cytogenetic evaluation

Abeer Z Tabbarah et al. Clin Neuropathol. 2012 May-Jun.

Abstract

Gliosarcoma, a recognized subtype of glioblastoma, is a biphasic tumor exhibiting distinct glial and sarcomatous components. Ependymosarcomas are rarer, biphasic ependymal tumors exhibiting sarcomatous change. Genetic abnormalities associated with this curious phenotype are not well understood. We are presenting the first karyotype of ependymosarcoma with identification of a clonal t(1;19)(q12;p13). Fluorescence in situ hybridization (FISH) was performed with a probe set targeting 1q23 and 19p13.3. Although the tumor did not show evidence of t(1;19)(q23;p13.3) by FISH, increased ploidy was a feature of the sarcomatous component. On clinical followup the patient is doing well without evidence of recurrence 55 months after initial resection, and postoperative treatment with irradiation and temozolomide. The significance of the genetic alterations we describe associated with sarcomatoid change in ependymal neoplasms, and ultimately their prognostic relevance, merits further study.

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Figures

Figure 1
Figure 1. Increased ploidy in sarcomatous component of ependymosarcoma. An ependymosarcoma with distinct ependymal (a) and sarcomatous (b) components was subjected to cytogenetic analysis. Conventional cytogenetics revealed several clonal abnormalities, including a t(1;19)(q12;p13) translocation (arrow) (c). In addition a subset of metaphases demonstrated tetraploidy (d). Dual color FISH studies performed in the ependymal (e) and sarcomatous (f) components demonstrated a lack of PBX1/E2A fusion, but increased ploidy in the sarcomatous component.
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References

    1. Actor B Cobbers JM Büschges R Wolter M Knobbe CB Lichter P Reifenberger G Weber RG Comprehensive analysis of genomic alterations in gliosarcoma and its two tissue components. Genes Chromosomes Cancer. 2002; 34: 416–427 doi:10.1002/gcc.10087 - PubMed
    1. Behling E Birbe R Veznadaroglu E Andrews DW Flanders A Kenyon LC Gliosarcoma arising from an anaplastic ependymoma: a case report of a rare entity. Hum Pathol. 2004; 35: 512–516 doi:10.1016/j.humpath.2003.10.018 - PubMed
    1. Biernat W Aguzzi A Sure U Grant JW Kleihues P Hegi ME Identical mutations of the p53 tumor suppressor gene in the gliomatous and the sarcomatous components of gliosarcomas suggest a common origin from glial cells. J Neuropathol Exp Neurol. 1995; 54: 651–656 doi:10.​1097/00005072-199509000-00006 - PubMed
    1. Boerman RH Anderl K Herath J Borell T Johnson N Schaeffer-Klein J Kirchhof A Raap AK Scheithauer BW Jenkins RB The glial and mesenchymal elements of gliosarcomas share similar genetic alterations. J Neuropathol Exp Neurol. 1996; 55: 973–981 doi:10.1097/00005072-199609000-00004 - PubMed
    1. Burger PC Scheithauer BW Tumors of the Central Nervous System, AFIP Atlas of Tumor Pathology, Series 4. Washington, DC: American Registry of Pathology; 2007;

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