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http://lib.inmeds.com.ua:8080/jspui/handle/lib/4731| Назва: | Results of NGS analysis in AML pediatric patients from Ukraine |
| Автори: | Левкович, Наталія Трофімова, Наталія Білоус, Юлія Ольхович, Наталія Сич, Ольга Кубаля, Наталія Стецюк, Ігор Горовенко, Наталія |
| Ключові слова: | Acute myeloid leukemia (AML) FLT3-ITD CEBPA NGS |
| Дата публікації: | 2023 |
| Видавництво: | CLLS 2023 – Electronic Book of Abstracts The 13th Biennial Childhood Leukemia and Lymphoma Symposium |
| Серія/номер: | ;Р.132 |
| Короткий огляд (реферат): | Acute myeloid leukemia (AML) is a malignancy that accounts for approximately 20% of pediatric acute leukemias. The prognosis of pediatric AML has been improved last years, but it trails that of most other types of pediatric cancer, with mortality rates of 30–40%. Currently, the newest drugs for the treatment of acute myeloid leukemia are being actively developed and used, selectively aimed at cells with specific gene changes. Also, an identification of molecular markers unique to different stages of the disease can provide valuable information about disease prognosis. The aim of our study was to use the possibilities of next-generation sequencing technology (NGS) for children with acute myeloid leukemia and other myeloproliferative diseases (MDS, CML, UMML) first time in Ukraine |
| Опис: | Methods: Bone marrow (BM) were collected from 46 AML children at the time of initial diagnosis (42 cases) or relapse (4 cases). Samples of nucleic acids (DNA and RNA) was isolated from BM using solid phase extraction methods. BM samples were sent to be analyzed with Oncomine™ Myeloid Research Assay based on a 40 key DNA genes and a broad fusion panel of 29 driver genes, in an Ion GeneStudio S5™ System. Results: Among 69 genes sequenced by the NGS platform, a total of 23 abnormal genes and 15 fusions were identified in 52 patients. The expression of almost all chimeric oncogenes (fusions) and some of mutation, which was detect by the NGS method, was confirmed by routine methods (PCR, real-time PCR, MLPA, fragment analysis). The most commonly mutated gene was CEBPA (30.43%), followed by NRAS (19.56%), FLT3-ITD (15.22%), FLT3- TKD (6.5%), PTNN11 (8.7%) and DNMT3A (6.5%). The data we obtained agree with The European LeukemiaNet (ELN) risk classification system and emphasizes the role of genetic alterations in AML, for example FLT3-ITD, NPM1 and CEBPA mutations have been shown to have a significant impact on prognostic assessment and therapeutic strategies for patients with a normal karyotype. Conclusion/Application to practice: As follows, the study of spectrum of genetic changes in a cohort of pediatric patients with AML is a tool that allows doctors to stratify patients by risk groups and make a prognosis. |
| URI (Уніфікований ідентифікатор ресурсу): | http://lib.inmeds.com.ua:8080/jspui/handle/lib/4731 |
| Розташовується у зібраннях: | Кафедра медичної та лабораторної генетики |
Файли цього матеріалу:
| Файл | Опис | Розмір | Формат | |
|---|---|---|---|---|
| Results of NGS analysis in AML pediatric patients from Ukraine.docx | Тези | 285.43 kB | Microsoft Word XML | Переглянути/Відкрити |
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