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ctt-journal > Druy et al. (Abstract)

Druy et al. (Abstract)

Cellular Therapy and Transplantation (CTT), Vol. 3, No. 12
doi: 10.3205/ctt-2011-No12-abstract17

© The Authors. This abstract is provided under the following license: Creative Commons Attribution 3.0 Unported

Abstract accepted for "5th Raisa Gorbacheva Memorial Meeting Hematopoietic Stem Cell Transplantation in Children and Adults", Saint Petersburg, Russia, September 18–20, 2011

Preliminary Program

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Molecular markers´ application for bone marrow involvement detection in patiens with Ewing family tumors

Alexander E. Druy1,2,3, Grigory A. Tsaur1,3, Alexander M. Popov1,2,3, Anna S. Ivanova1,3, Egor V. Shorikov1,3, Sergey N. Tuponogov1, Leonid I. Saveliev1,2,3, Larisa G. Fechina1,3

1Regional Childen Hospital No 1, Ekaterinburg, Russia; 2Ural State Medical Academy, Ekaterinburg, Russia; 3Institute of Medical Cell Technologies, Ekaterinburg, Russia

Correspondence: Alexander E. Druy, Regional Children Hospital No 1, Pediatric Oncology/Hematology Center, 32 S. Deryabina Str. Ekaterinburg, Russia, E-mail: Dr-Drui@spam is badyandex.ru


Aim: An evaluation of NKX2, STEAP1, and CCND1 genes' expression for bone marrow (BM) involvement detection in patients with Ewing family tumors (EFT).

Methods. Gene expression was estimated by multiplex quantitative real-time RCR in 59 BM samples obtained from 10 EFT patients and in 8 BM samples of patients without malignancies.

Results. NKX2 expression was not detected in normal BM, although STEAP1 and CCND1 expression was revealed in all BM samples from patients without malignancies. Seventeen BM samples from EFT patients were considered true positive in the case of tumor cell presence in BM smears or detection of fusion transcript (EWS-FLI1 or EWS-ERG) by nested PCR. Expression of NKX2 was detected in 16, and STEAP1 and CCND1 in 17 positive samples. In negative BM samples mRNA NKX2 was detected in 2 cases, but STEAP1 and CCND1 expression was noted in all 42 negative samples. The best diagnostic test performance values assessed by ROC-analysis were obtained for NKX-2; the overall correct prediction (OCP) value was 0.949. OCP values for STEAP1 and CCND1 were relatively low (0.695 and 0.763). The only positive BM sample with an absence of NKX2 expression but presence of the fusion transcript EWS-FLI1 was obtained at the time of primary diagnosis. Simultaneous analysis of BM samples obtained from two another sites revealed the expression of both NKX2 and EWS-FLI1 but microscopically these samples were negative. NKX2 mRNA was detected in 2 BM samples from a patient who had the atypical fusion gene variant EWS exon 9; ERG exon 7 was verified by sequencing.

Conclusions. NKX2 revealed the best diagnostic values for BM involvement detection in patients with EFT both at the diagnosis and during treatment. STEAP1 and CCND1 showed remarkably low diagnostic characteristics and their application for marrow disease detection is inappropriate.

Keywords: Ewing family tumors, Bone marrow involvement, NKX2, STEAP1, CCND1, PCR