Diffuse gliomas are heterogeneous group of central nervous system tumours with various histological subtypes that differ in their response to treatment and in the prognosis of the disease. The most frequent are tumors derived from astrocytes and/or from oligodendrocytes. Differentiation of glial subtypes based solely on morphology is subjective and also treatment (actinotherapy, chemotherapy and surgery) is rather problematic.
Therefore, new diagnostic and prognostic indicators must be sought to enable stratification of treatment and to help reduce morbidity and mortality of patients. One possibility is subclassification of patients according to specific chromosomal aberrations in tumour cells. For detection of the most frequent cytogenetic changes in glial cells (deletion of tumor-suppressor genes TP53, CDKN2A and RB1, deletion of 1p36 and/or 19q13.3, amplification of EGFR gene, trisomy 7 and monosomy 10) we used I-FISH with locus-specific and/or ?-satellite DNA probes (Abbott Vysis). We examined tissue specimens of 68 patients with different histological types of gliomas (2x pilocytic astrocytoma, 15x diffuse astrocytoma, 10x anaplastic astrocytoma, 27x glioblastoma, 3x oligodendroglioma, 9x anaplastic oligodendroglioma, 2x anaplastic oligoastrocytoma). The results of molecular-cytogenetic analyses were correlated with morphological and clinical findings. These analyses were successful in 63 patients (92,6%) and due to non-adequate tissue specimen were uninformative in five patients only. I-FISH results in the most cases corresponded well with histological and clinical findings and confirmed original diagnosis. In 29 patients I-FISH contributed to precise diagnosis and/or prognosis. Particularly, the most significant was finding of combined deletion 1p36/19q13.3 in seven patients with anaplastic oligodendroglioma, and two with anaplastic oligoastrocytoma, which is considered to be a predictor of good response to chemotherapy. Therefore, chemotherapy as primary treatment was recommended in these cases. I-FISH seems to be indispensable to survey specific chromosomal aberrations in tumour cells. A systematic molecular cytogenetic analyses by means of interphase FISH showed in our cohort advancement of diagnosis, grading and classification and in some cases also helped with stratification of brain tumours treatment. Supported by grants IGA MZ CR 1A/8237-3, MSM LC535 and MZO 00064165. (10th European Workshop of molecular Cytogenetics in Human Solid Tumors, Le Grande Motte, France, 8.-11.6. 2006)
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citation: Zemanová Zuzana, Kyra Michalová, Libuše Babická, Šárka Ransdorfová, Jela Melicherčíková, Filip Kramář, Petr Hrabal, Petr Kozler: Contribution of molecular cytogenetic analyses to diagnosis and treatment of malignant brain tumours. Multimedia support in the education of clinical and health care disciplines :: Portal of 1-st Faculty of Medicine - Charles University [online] , [cit. 29. 05. 2020]. Available from WWW: https://portal.lf1.cuni.cz/article-663-contribution-of-molecular-cytogenetic-analyses-to-diagnosis-and-treatment-of-malignant-brain-tumours. ISSN 1803-6619.