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

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Abstract

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.

About the authors

A. E. Druy

Regional Children’s Hospital №1; Ural State Medical Academy; Institute of Medical Cell Technologies

Author for correspondence.
Email: Dr-Drui@yandex.ru
Russian Federation

G. A. Tsaur

Regional Children’s Hospital №1; Institute of Medical Cell Technologies

Russian Federation

A. M. Popov

Regional Children’s Hospital №1; Institute of Medical Cell Technologies

Russian Federation

A. S. Demina

Regional Children’s Hospital №1; Institute of Medical Cell Technologies

Russian Federation

T. O. Riger

Regional Children’s Hospital №1; Institute of Medical Cell Technologies

Russian Federation

S. N. Tuponogov

Regional Children’s Hospital №1

Russian Federation

E. V. Shorikov

Regional Children’s Hospital №1; Institute of Medical Cell Technologies

Russian Federation

L. I. Saveliev

Regional Children’s Hospital №1; Ural State Medical Academy; Institute of Medical Cell Technologies

Russian Federation

S. V. Tsvirenko

Regional Children’s Hospital №1; Ural State Medical Academy

Russian Federation

L. G. Fechina

Regional Children’s Hospital №1; Institute of Medical Cell Technologies

Russian Federation

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Copyright (c) 2012 Druy A.E., Tsaur G.A., Popov A.M., Demina A.S., Riger T.O., Tuponogov S.N., Shorikov E.V., Saveliev L.I., Tsvirenko S.V., Fechina L.G.

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