Prognostic Value of Genetic Mutations in Patients with Acute Myeloid Leukemias: Results of a Cooperative Study of Hematology Clinics of Saint Petersburg (Russia) and Charite Clinic (Germany)

Мотыко, Е В; Transfusiology, ya Sovetskaya str.; Блау, О В; Polushkina, LB; Ls, Martynenko; Бакай, М П; Tsybakova, NYu; Ruzhenkova, YuS; Kleina, EV; Павленко, Н Б; Раджабова, А М; Karyagina, EV; Uspenskaya, OS; Волошин, С В; Чечеткин, А В; Мартынкевич, И С

doi:10.21320/2500-2139-2019-12-2-211-219

Клиническая онкогематология

2019

DOI: 10.21320/2500-2139-2019-12-2-211-219

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Prognostic Value of Genetic Mutations in Patients with Acute Myeloid Leukemias: Results of a Cooperative Study of Hematology Clinics of Saint Petersburg (Russia) and Charite Clinic (Germany)

Е В Мотыко¹,

ya Sovetskaya str. Transfusiology²,

О В Блау³

et al.

Abstract: Цель. Проанализировать влияние на прогноз ряда типичных для больных острыми миелоидными лейкозами (ОМЛ) мутаций. Материалы и методы. В исследование включено 620 пациентов с ОМЛ, проходивших обследование в гематологических клиниках Санкт-Петербурга (Россия) и в клинике Шарите (Берлин, Германия). Цитогенетическое исследование выполнено методом G-дифференциального окрашивания хромосом. Скрининг аберраций в генах DNMT3A, IDH1/2 проводили с помощью полимеразной цепной реакции (ПЦР) в режиме реального времени с даль… Show more

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Identification of Mutations in IDH1/2, DNMT3A, ASXL1 Genes of Genome Epigenetic Regulation and Their Co-Occurrence with FLT3, NPM1, RUNX1 Mutations in Acute Myeloid Leukemia

Belotserkovskaya¹,

Zaikova²,

Petukhov³

et al. 2021

Клиническая онкогематология

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Aim. To identify mutations in IDH1/IDH2, DNMT3A, and ASXL1 genes responsible for genome epigenetic regulation and their co-occurrence with FLT3, NPM1, and RUNX1 mutations in newly diagnosed adult acute myeloid leukemias (AML). Materials & Methods. The study included 56 patients with newly diagnosed AML treated at the VA Almazov National Medical Research Center. Among them there were 34 men and и 22 women aged 18-76 years (median 46 years). Mutation status of IDH1, IDH2, DNMT3A, and ASXL1 genes of epigenetic regulation was assessed by Sanger sequencing method. Molecular genetic analysis of FLT3, NPM1, and RUNX1-RUNX1T1 genes was performed using commercial kits. Results. Mutations in epigenetic regulation genes were detected in 14 (25 %) out of 56 patients. Mutation prevalence was not associated with risk groups (p = 0.072). IDH1/2 mutations were identified in 15.6 % of patients and were significantly oftener observed concurrent with NPM1 mutations (62.5 %; p = 0.01) compared to patients with wild-type IDH1/2. In most patients IDH1/2 mutations were associated with normal karyotype (p = 0.002). The DNMT3A (R882) mutation was identified in 4 (7.1 %) out of 56 patients within the analyzed group. In 6 patients (11.1 %) ASXL1 mutations were detected co-occurring with RUNX1-RUNX1T1 and FLT3-ITD mutations. Conclusion. Mutations in epigenetic regulation genes are often identified in AML patients and can be concurrent with abnormalities in NPM1, FLT3 и RUNX1 genes.

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Identification of Mutations in IDH1/2, DNMT3A, ASXL1 Genes of Genome Epigenetic Regulation and Their Co-Occurrence with FLT3, NPM1, RUNX1 Mutations in Acute Myeloid Leukemia

Belotserkovskaya¹,

Zaikova²,

Petukhov³

et al. 2021

Клиническая онкогематология

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Prognostic Value of Genetic Mutations in Patients with Acute Myeloid Leukemias: Results of a Cooperative Study of Hematology Clinics of Saint Petersburg (Russia) and Charite Clinic (Germany)

Cited by 1 publication

References 45 publications

Identification of Mutations in IDH1/2, DNMT3A, ASXL1 Genes of Genome Epigenetic Regulation and Their Co-Occurrence with FLT3, NPM1, RUNX1 Mutations in Acute Myeloid Leukemia

Identification of Mutations in IDH1/2, DNMT3A, ASXL1 Genes of Genome Epigenetic Regulation and Their Co-Occurrence with FLT3, NPM1, RUNX1 Mutations in Acute Myeloid Leukemia

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