bloodjourГематология и трансфузиологияRussian journal of hematology and transfusiology0234-57302411-3042ООО Издательский дом «Практика»10.18821/0234-5730-2016-61-2-72-80bloodjour-43Research ArticleОРИГИНАЛЬНЫЕ СТАТЬИORIGINAL ARTICLESКлинические, гематологические и молекулярно-генетические особенности острых миелоидных лейкозов с мутациями в генах FLT3, CKIT, NRAS и NPM1Clinical, hematological and molecular-genetic features of acute myeloid leukemia with mutations in FLT3, CKIT, NRAS and NPM1https://orcid.org/0000-0002-6052-6472ПетроваЕ. В.PetrovaE. V.

Петрова Екатерина Вадимовна, кандидат биол. наук, научный сотрудник лаборатории молекулярной генетики

191024, г. Санкт-Петербург

Petrova Ekaterina V., BD, PhD, research associate of laboratory of molecular genetics

191024, St.Petersburg

katteerina@mail.ruhttps://orcid.org/0000-0001-5958-0490МартынкевичИ. С.MartynkevichI. S.

191024, г. Санкт-Петербург

191024, St.Petersburg

https://orcid.org/0000-0003-0051-2121ПолушкинаЛ. Б.PolushkinaL. B.

191024, г. Санкт-Петербург

191024, St.Petersburg

https://orcid.org/0000-0003-1428-3059МартыненкоЛ. С.MartynenkoL. S.

191024, г. Санкт-Петербург

191024, St.Petersburg

https://orcid.org/0000-0001-5450-2944ИвановаМ. П.IvanovaM. P.

191024, г. Санкт-Петербург

191024, St.Petersburg

https://orcid.org/0000-0002-0107-6184ЦыбаковаН. Ю.TsybakovaN. Yu.

191024, г. Санкт-Петербург;

191015, г. Санкт-Петербург

St. Petersburg, 191024;

St. Petersburg, 191015

https://orcid.org/0000-0002-8134-7422КлеинаЕ. В.KleinaE. V.

191024, г. Санкт-Петербург

191024, St.Petersburg

https://orcid.org/0000-0002-8701-2754ШабановаЕ. С.ShabanovaE. S.

191024, г. Санкт-Петербург;

191015, г. Санкт-Петербург

St. Petersburg, 191024;

St. Petersburg, 191015

 

https://orcid.org/000-0002-7569-0697ЧечеткинА. В.ChechetkinA. V.

191024, г. Санкт-Петербург

191024, St.Petersburg

https://orcid.org/0000-0002-3771-909XАбдулкадыровК. М.AbdulkadyrovK. M.

191024, г. Санкт-Петербург

191024, St.Petersburg

ФГБУ «Российский научно-исследовательский институт гематологии и трансфузиологии» ФМБА РоссииРоссияRussian Research Institute of Hematology and TransfusiologyRussian FederationФГБУ «Российский научно-исследовательский институт гематологии и трансфузиологии» ФМБА России; ГБОУ ВПО «Северо-Западный государственный медицинский университет им. И.И. Мечникова» Минздрава РоссииРоссияRussian Research Institute of Hematology and Transfusiology; NorthWestern State Medical University n.a. I.I. MechnikovRussian Federation2016280220196127280Copyright © Петрова Е.В., Мартынкевич И.С., Полушкина Л.Б., Мартыненко Л.С., Иванова М.П., Цыбакова Н.Ю., Клеина Е.В., Шабанова Е.С., Чечеткин А.В., Абдулкадыров К.М., 20192019Петрова Е.В., Мартынкевич И.С., Полушкина Л.Б., Мартыненко Л.С., Иванова М.П., Цыбакова Н.Ю., Клеина Е.В., Шабанова Е.С., Чечеткин А.В., Абдулкадыров К.М.Petrova E.V., Martynkevich I.S., Polushkina L.B., Martynenko L.S., Ivanova M.P., Tsybakova N.Y., Kleina E.V., Shabanova E.S., Chechetkin A.V., Abdulkadyrov K.M.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.htjournal.ru/jour/article/view/43

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.

Current methods of the laboratory diagnostics permit to detect a large quantity of the molecular markers, typical for patients with acute myeloid leukemia. However, low frequency of some aberrations does not not to determine their prognostic value. Thus, the necessity of the selection of the most frequent and prognostically significant molecular markers specifies the actuality of the present research. We analyzed the incidence and prognostic relevance of NRAS, CKIT, FLT3 and NPM1 mutations in 200 AML patients. Cytogenetic and molecular-genetic analysis was carried out by GTG-method, PCR and sequencing. We found out, that mutations in CKIT, FLT3 and NPM1 significantly influence on the prognosis, thereby the algorithm of genetic diagnostics of AML patients was suggested. We underlined the importance of the detection of simultaneous mutations in genes with different functionality.

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