May cytogeneticist and molecular geneticist bring help to children suffering from malignant tumor?

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Klin Onkol 2003; 16(Suppl 2003): 107-112.

Abstract: Numerical and/or structural chromosome aberrations occur frequently in cancer cells. Those aberrations may be specific markers of cancer cells with diagnostic or prognostic significance and they may be detected by karyotype examination or by some molecular genetic methods (FISH, PCR, RT PCR, or CGH). The aim of this paper was to exemplify significance of cytogenetical and molecular genetical examination in neuroblastoma and Ewing_s sarcoma family of tumors (skeletal and extraskeletal Ewing’s sarcoma and primitive neuroectodermal tumor). Classification of patients suffering from neuroblastoma into prognostic groups (DNA ploidy, N-myc amplification, histological classification, age at the time of diagnosis, and clinical stage) is fundamental for therapy selection. Detection of specific translocations t (11;22)(q24;q12) or t (21;22)(q22;q12) in Ewing\s sarcoma family of tumors is helpful for diagnosis determination and if using sensitive method like RT PCR (detects 1 cancer cell in 105-6 normal cells) also for minimal residual disease. The above mentioned examinations are necessary not only for selection of correct therapy but also for participation in international multicentric studies.

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