Abstract for presentation at 11th International Congress of Human Genetics

Molecular cytogenetic analyses of malignant brain tumor cells

  • Kyra Michalova, Center of Oncocytogenetics, General Faculty Hospital Prague, Czech Republic
  • Dr Zuzana Zemanova, Center of Oncocytogenetics, General Faculty Hospital Prague, Czech Republic
  • Libuse Babicka, Center of Oncocytogenetics, General Faculty Hospital Prague, Czech Republic
  • Sarka Ransdorfova, Institute of Hematology and Blood Transfusion Prague, Czech Republic
  • Dr Filip Kramar, Neurosurgical Department of Central Military Hospital Prague, Czech Republic
  • Dr Petr Hrabal, Central Military Hospital Prague, Czech Republic
  • Dr Petr Kozler, Neurosurgical Department of Central Military Hospital Prague, Czech Republic

    • The most frequent tumors of central nervous system include diffuse gliomas - heterogeneous group with various histological subtypes varying in response to treatment and prognosis. Differentiation of glial subtypes based solely on morphology is subjective. Therefore, new diagnostic and prognostic indicators must be searched for to enable stratification of treatment and reduce morbidity and mortality. Subclassification of patients according to cytogenetic findings seems to be one of possible way. For the detection of most frequent changes in glial cells (deletion of tumor-suppressor genes p53, p16 and RB1, deletion of 1p36 and/or 19q13.3, amplification of EGFR gene, trisomy 7 and monosomy 10) we used I-FISH with locus- and/or centromere-specific probes (Abbott Vysis™). We examined 59 tissue specimens in 58 patients with different types of gliomas (2x pilocytic astrocytoma, 13x diffuse astrocytoma, 8x anaplastic astrocytoma, 23x glioblastoma, 3x oligodendroglioma, 8x anaplastic oligodendroglioma, 2x anaplastic oligoastrocytoma). Molecular-cytogenetic analyses were correlated with morphological and clinical findings. In two patients with original diagnosis of anaplastic astrocytoma (grade III) we proved amplification of EGFR gene - typical aberration found in glioblastoma (grade IV), which we detected in eight glioblastoma specimens. Most typical finding, monosomy 10 was found in 19 of 23 glioblastomas. In one case diagnosed as oligodendroglioma (grade II) we proved deletion of RB1 gene – typical for high grade astrocytoma. In six patients with anaplastic oligodendroglioma, and also in two patients with anaplastic oligoastrocytoma combined deletion of 1p36 and 19q13.3 was found, which is considered to be a predictor of good response to chemotherapy. A systematic molecular cytogenetic analyses by means of interphase FISH showed in our cohort advancement of diagnosis, grading and classification of brain tumours. Supported by grant IGA MZ CR 1A/8237-3 and VZ 064165.

    Conference Organiser - ICMS Pty Ltd