vestibИзвестия Национальной академии наук Беларуси. Серия биологических наукProceedings of the National Academy of Sciences of Belarus, Biological Series1029-89402524-230XThe Republican Unitary Enterprise Publishing House "Belaruskaya Navuka"10.29235/1029-8940-2019-64-2-216-221vestib-432Research ArticleСтатьиОценка экспрессии генов TH и PHOX2B с использованием ПЦР в режиме реального времени для диагностики метастатического поражения костного мозга при нейробластомеEvaluation of TH and PHOX2B gene expression by real time PCR for diagnostic of bone marrow metastatic lesion in neuroblastoma patientsКушнероваЕ. В.KushniarovaL. V.

Кушнерова Елизавета Викторовна – студент.

пр. Независимости, 4, 220030, г. Минск.

Lizaveta V. Kushniarova – student.

43, Frunzenskaya Str., v. Borovliany, 223053, Minsk Region.

elizaveta.kushnerova@gmail.comПахомоваИ. В.PakhomavaI. V.

Пахомова Ирина Вениаминовна – м л. науч. сотрудник.

ул. Фрунзенская, 43, 223053, Минский р-н, д. Боровляны.

Iryna V. Pakhomava – Junior researcher.

43, Frunzenskaya Str., v. Borovliany, 223053, Minsk Region.

Pachomova.Irina@gmail.comПролесковскаяИ. В.PraliaskouskayaI. V.

Пролесковская Инна Витальевна – канд. мед. наук, доцент, заведующий отделением.

ул. Фрунзенская, 43, 223053, Минский р-н, д. Боровляны.

Inna V. Praliaskouskaya – Ph. D. (Med.), Assistant Professor, Head of the Department.

43, Frunzenskaya Str., v. Borovliany, 223053, Minsk Region.

proleskai@mail.ruРеспубликанский научно-практический центр детской онкологии, гематологии и иммунологии.Republican Center for Pediatric Oncology, Hematology and Immunology.201917052019642216221Copyright © Кушнерова Е.В., Пахомова И.В., Пролесковская И.В., 20192019Кушнерова Е.В., Пахомова И.В., Пролесковская И.В.Kushniarova L.V., Pakhomava I.V., Praliaskouskaya I.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://vestibio.belnauka.by/jour/article/view/432

Несмотря на применение комплексного лечения, выживаемость пациентов группы высокого риска при нейробластоме не превышает 50 %, при этом основная причина смертельных исходов – развитие рецидива забо- левания. Ключевыми факторами неблагоприятного прогноза в отношении выживаемости и частоты развития реци- дивов являются поражение костного мозга (КМ), а также наличие минимальной остаточной болезни на различных этапах терапии.

Наиболее перспективным методом, позволяющим с высокой чувствительностью и специфичностью (за счет комбинации молекулярных маркеров) выявлять клетки нейробластомы в образцах КМ является ПЦР в режиме реального времени. В данной работе нами разработан метод оценки экспрессии генов TH и PHOX2B для детекции метастатиче- ского поражения КМ при нейробластоме. Разработанный метод обладает высокой чувствительностью (1·10–4) и спе- цифичностью к опухолевым клеткам. Экспрессия генов TH и PHOX2B оценена у 67 пациентов детского возраста с нейробластомой на момент постановки диагноза. Показано наличие клинического значения оценки экспрессии генов TH и PHOX2B, что проявляется достоверно худшими показателями общей и безрецидивной выживаемости в группе пациентов с гиперэкспрессией детектируемых генов. Разработанный метод может быть использован в кли- нической практике как для оценки степени поражения КМ, так и для стратификации пациентов по группам риска на момент постановки диагноза.

Despite on using the use of complex treatment, the survival of high risk neuroblastoma patients doesn’t exceed 50 % with relapse as the main cause of death. The bone marrow (BM) lesion and presence of minimal residual disease at various stages of therapy are key factors of poor outcome and high frequency of relapse. Real time PCR is the most promising method for detecting neuroblastoma cells in BM samples due to the high sensitivity and specificity, which achieved by combination of several molecular markers. In this study we developed a method for evaluation TH and PHOX2B expression for monitoring metastatic BM lesion in neuroblastoma patients. This method has high sensitivity (1·10–4) and specificity to tumor cells. Evaluation of TH and PHOX2B gene expression was performed for 67 children with neuroblastoma at the time of diagnosis. We demonstrated that patients with overexpression of these genes has significantly worse overall and relapse-free survival. So, the developed method can be used in clinical practice for evaluation BM lesion degree as well as for risk group stratification in neuroblastoma patients at the time of diagnosis.

Real time PCR is the most promising method for detecting neuroblastoma cells in BM samples due to the high sensitivity and specificity, which achieved by combination of several molecular markers. In this study we developed a method for evaluation TH and PHOX2B expression for monitoring metastatic BM lesion in neuroblastoma patients. This method has high sensitivity (1·10–4) and specificity to tumor cells. Evaluation of TH and PHOX2B gene expression was performed for 67 children with neuroblastoma at the time of diagnosis. We demonstrated that patients with overexpression of these genes has significantly worse overall and relapse-free survival. So, the developed method can be used in clinical practice for evaluation BM lesion degree as well as for risk group stratification in neuroblastoma patients at the time of diagnosis.

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The authors declare that there are no conflicts of interest present.