zdorПроблемы здоровья и экологииHealth and Ecology Issues2220-09672708-6011Gomel State Medical University10.51523/2708-6011.2013-10-4-21zdor-1441Research ArticleЭКСПЕРИМЕНТАЛЬНАЯ МЕДИЦИНА И БИОЛОГИЯEXPERIMENTAL MEDICINE AND BIOLOGYАНАЛИЗ МУТАЦИЙ ГЕНОВ CEBPA, NPM1, FLT3 И P53 В ГРУППАХ ПАЦИЕНТОВ С МИЕЛОДИСПЛАСТИЧЕСКИМ СИНДРОМОМ И ОСТРЫМ НЕЛИМФОБЛАСТНЫМ ЛЕЙКОЗОМTHE Analysis of CEBPA, NPM1, FLT3 and P53 gene mutations in groups of patients with myelodysplastic syndrome and acute nonlymphocytic leukaemiaСилинА. Е.SilinA. E.noemail@neicon.ruМартинковВ. Н.MartinkovV. N.noemail@neicon.ruНовикД. К.NovikD. K.noemail@neicon.ruКозичЖ. М.KozichZh. M.noemail@neicon.ruТропашкоИ. Б.TropashkoI. B.noemail@neicon.ruШпудейкоВ. К.ShpudeykoV. K.noemail@neicon.ruСилинаА. А.SilinaA. A.noemail@neicon.ruВоропаеваА. В.VoropayevaA. V.noemail@neicon.ruМартыненкоС. М.MartynenkoS. M.noemail@neicon.ruРеспубликанский научно-практический центр радиационной медицины и экологии человека, г. ГомельRepublican Research Centre for Radiation Medicine and Human Ecology, Gomel20132812201304108114Copyright © Силин А.Е., Мартинков В.Н., Новик Д.К., Козич Ж.М., Тропашко И.Б., Шпудейко В.К., Силина А.А., Воропаева А.В., Мартыненко С.М., 20132013Силин А.Е., Мартинков В.Н., Новик Д.К., Козич Ж.М., Тропашко И.Б., Шпудейко В.К., Силина А.А., Воропаева А.В., Мартыненко С.М.Silin A.E., Martinkov V.N., Novik D.K., Kozich Z.M., Tropashko I.B., Shpudeyko V.K., Silina A.A., Voropayeva A.V., Martynenko S.M.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.gsmu.by/jour/article/view/1441

В группе, состоящей из 23 пациентов с миелодиспластическим синдромом МДС (вариант - рефрактерная анемия с избытком бластов, РАИБ) и 97 пациентов с острым нелимфобластным лейкозом (ОНЛЛ) проведен молекулярно-генетический анализ распространенности соматических мутаций генов FLT3, NPM1, CEBPA и p53. Установлено, что мутации FLT3-ITD в группе пациентов с МДС РАИБ встречаются с частотой 8,7 ± 5,9 %, а в группе с ОНЛЛ - 22,7 ± 4,3 %. Мутация FLT3 D835 выявлена только в группе ОНЛЛ с частотой 7,2 ± 2,6 %. Мутации гена NPM1 выявлены в 8,7 ± 5,9 % случаев МДС РАИБ и 21,6 ± 4,2 % случаев ОНЛЛ. Соматические мутации CEBPA обнаружены в 11,3 ± 3,2 % случаев ОНЛЛ, а в группе МДС РАИБ отсутствовали. Мутации гена р53 выявлены в 17,4 ± 7,9 % случаев МДС РАИБ и 10,3 ± 0,3 % случаев ОНЛЛ. Посредством прямого секвенирования дана характеристика всем выявленным мутациям генов CEBPA и p53. В результате проведенного анализа установлено, что использование молекулярно-генетических маркеров совместно с цитогенетическими позволяет расширить группу с прогностическими маркерами на 41,3 % по сравнению с использованием только цитогенетических данных.

The article presents the molecular genetic analysis of the prevalence of somatic mutations in FLT3, NPM1, CEBPA, and p53 genes in a group consisting of 23 patients with myelodysplastic syndrome MDS (option - refractory anemia with excess blasts, RAEB) and 97 patients with acute nonlymphoblastic leukemia (ANLL). It was ascertained that FLT3-ITD mutations in the group of patients with MDS RAEB occur with the prevalence of 8,7 ± 5,9 %, while in the group with ANLL they are observed in 22,7 ± 4,3 % cases. FLT3 D835 mutations were detected only in the ANLL group with the prevalence of 7.2±2.6 %. NPM1 gene mutations were detected in 8,7 ± 5,9 % of MDS RAEB cases and in 21,6 ± 4,2 % of ANLL cases. CEBPA somatic mutations were found in 11,3 ± 3,2 % of ANLL cases, while the group of MDS RAEB was free of them. Mutations in the p53 gene were detected in 17,4 ± 7,9 % of MDS RAEB cases and in 10,3 ± 0,3 % of ANLL cases. All the detected CEBPA and p53 gene mutations were described by means of direct sequencing. The analysis results show that the use of molecular genetic markers in combination with cytogenetic ones makes it possible to expand the group with prognostic markers by 41,3 % in comparison with the use of only cytogenetic data.

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