APPLICATION OF NKX2-2, STEAP1 AND CCND1 GENES EXPRESSION FOR BONE MARROW INVOLVEMENT DETECTION IN PATIENTS WITH EWING FAMILY TUMORS

We estimated the applicability of NKX2-2, STEAP1 and CCND1 genes expression evaluation by real-time PCR for bone marrow (BM) involvement detection in Ewing family tumors (EFT) patients. Expression of molecular markers were analyzed in 59 BM samples from 6 EFT patients with EWS gene rearrangements, in 20 BM samples from 5 patients without detected rearrangements, in 8 BM samples from 8 patients without malignancies, in SK-N-MC cell line and in 9 samples of the peripheral blood stem cells. BM samples were considered true positive in case of EWS-FLI1 or EWS-ERG fusion gene transcript presence or tumor cells in BM smears. NKX2-2 expression was not revealed in normal BM while was present in positive BM samples and was not found in the majority of negative BM samples. Expression of NKX2-2 and CCND1 remained stable during EFT treatment, while STEAP1 expression was downmodulated. ROC-analysis revealed threshold levels of expression for each marker which were used for diagnostic values calculation. NKX2-2 demonstrated high positive and negative predictive values (0,889 и 0,976 respectively) for EFT marrow disease detection and monitoring. Overall correct prediction value achieved 0,949. STEAP1 and CCND1 assessment was not relevant for BM disease monitoring in EFT patients.

NKX2-2, Ewing family tumors, bone marrow, real-time quantitative PCR, NKX2-2

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