Клинические, гематологические и молекулярно-генетические особенности острых миелоидных лейкозов с мутациями в генах FLT3, CKIT, NRAS и NPM1

Современные методы лабораторной диагностики дают возможность выявить большое количество молекулярно-генетических маркеров, характерных для ОМЛ. Однако невысокая частота встречаемости некоторых повреждений и разрозненность данных литературы не позволяют определить их прогностический потенциал. Таким образом, актуальность работы обусловлена необходимостью выбора наиболее часто встречающихся и прогностически значимых молекулярно-генетических маркеров. Мы провели исследование частоты встречаемости и прогностического потенциала мутаций генов NRAS, CKIT, FLT3 и NPM1. В работе проанализированы 200 больных ОМЛ. Цитогенетические и молекулярно-генетические исследования выполнены с помощью методов GTG дифференциальной окраски хромосом, метода ПЦР и секвенирования. Получены результаты о статистически значимом влиянии на прогноз заболевания мутаций в генах CKIT, FLT3 и NPM1, на основании чего предложен алгоритм генетической диагностики больных ОМЛ. Подчеркнута важность детекции сочетанной встречаемости мутаций в генах, несущих разную функциональную нагрузку.

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