ЗНАЧЕННЯ МУТАЦІЇ BRAFV600E ПРИ ІНТРААКСІАЛЬНИХ ПУХЛИНАХ МОЗКУ У ПАЦІЄНТІВ МАЛАЙЗІЇ: СЕРІЯ ВИПАДКІВ І ОГЛЯД ЛІТЕРАТУРИ
DOI:
https://doi.org/10.32471/exp-oncology.2312-8852.vol-43-no-2.16076Ключові слова:
пухлини головного мозку, інтрааксіальні пухлини, мутація BRAFV600E, Малайзія.Анотація
Резюме. Стан питання: До сьогодні мутації у гені BRAF у пацієнтів з пухлинами головного мозку не були охарактеризовані серед населення Малайзії. У численних дослідженнях повідомляється про існування основних мутацій у гені BRAF при різних типах раку. Міссенс-мутація в кодоні 600 ядерного онкогена BRAF (BRAFV600E) є найбільш поширеною мутацією в «гарячій точці», яка була ідентифікована у численних злоякісних новоутвореннях людини. Мета: з’ясувати частоту мутації BRAFV600E у серії малазійських пацієнтів з пухлинами головного мозку і встановити, чи існує зв’язок між мутацією BRAFV600E і клініко-патологічними особливостями пацієнтів. Матеріал та методи: Мутаційний статус BRAFV600E було проаналізовано у свіжозаморожених зразках пухлинної тканини, отриманих від 50 малазійських пацієнтів з пухлинами головного мозку, та визначено його кореляцію з клініко-патологічними особливостями пацієнтів (включаючи вік, стать і локалізацію пухлини, наприклад, інтрааксіальна — всередині речовини мозку, або позааксіальна: поза речовиною мозку). Результати: Загальна частота мутації BRAFV600E склала 22% (11 з 50 пацієнтів). Наявність мутації BRAFV600E достовірно корелювала з локалізацією пухлини, зокрема показано, що BRAFV600E частіше зустрічалась у групі інтрааксіальних пухлин, ніж у групі екстрааксіальних пухлин. У цьому дослідженні ми також виявили, що пацієнти чоловічої статі були дещо більш сприйнятливі до мутації BRAFV600E, і ця мутація переважала у пацієнтів вікової групи <40 років. Однак ці параметри не мали статистичної значущості. Висновок: Згідно отриманих даних, мутація BRAFV600E достовірно частіше спостерігається у пацієнтів з інтрааксіальною пухлиною головного мозку, що може бути основою для подальших досліджень генетичних змін, які відбуваються під час прогресування пухлинного процесу у головному мозку у малайзійській популяції.
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