Evaluation of TH and PHOX2B gene expression by real time PCR for diagnostic of bone marrow metastatic lesion in neuroblastoma patients

L V Kushniarova,I V Praliaskouskaya,I V Pakhomava

doi:10.29235/1029-8940-2019-64-2-216-221

L V Kushniarova, I V Praliaskouskaya + Show 1 more

Open Access

https://doi.org/10.29235/1029-8940-2019-64-2-216-221

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Abstract

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.

Highlights

Real time PCR is the most promising method for detecting neuroblastoma cells in bone marrow (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
We demonstrated that patients with overexpression of these genes has significantly worse overall and relapse-free survival

Summary

ПОРАЖЕНИЯ КОСТНОГО МОЗГА ПРИ НЕЙРОБЛАСТОМЕ

В данной работе нами разработан метод оценки экспрессии генов TH и PHOX2B для детекции метастатического поражения КМ при нейробластоме. 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 клинической практике как для оценки степени поражения КМ, так и для стратификации пациентов по группам риска на момент постановки диагноза. Ключевые слова: нейробластома, TH, PHOX2B, ПЦР в режиме реального времени, общая выживаемость, бессобытийная выживаемость. В. Оценка экспрессии генов TH и PHOX2B с использованием ПЦР в режиме реального времени для диагностики метастатического поражения костного мозга при нейробластоме / Е. EVALUATION OF TH AND PHOX2B GENE EXPRESSION BY REAL TIME PCR FOR DIAGNOSTIC OF BONE MARROW METASTATIC LESION IN NEUROBLASTOMA PATIENTS

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