FLT3 and NPM1 gene mutations in patients with acute myeloid leukemias and the impact of FLT3-ITD mutations on the survival of patients with a normal karyotype
Aim. To estimate the extent of FLT3 and NPM1 gene mutations and the impact of mutations of FLT3-ITD on the survival of patients with acute myeloid leukemias (AML). Materials and methods. The nucleus-containing cells of bone marrow and blood were studied in 43 patients with AML. Polymerase chain reac...
| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
"Consilium Medicum" Publishing house
2010-12-01
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| Series: | Терапевтический архив |
| Subjects: | |
| Online Access: | https://ter-arkhiv.ru/0040-3660/article/view/30741 |
| _version_ | 1828483087841886208 |
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| author | Irina Stepanovna Martynkevich Sergey Vasil'evich Gritsaev Mikhail Viktorovich Moskalenko Marina Petrovna Ivanova Vasilisa Yur'evna Aksenova Sof'ya Aleksandrovna Tiranova Kudrat Mugutdinovich Abdulkadyrov I S Martynkevich S V Gritsayev M V Moskalenko M P Ivanova V Yu Aksenova S A Tiranova K M Abdulkadyrov |
| author_facet | Irina Stepanovna Martynkevich Sergey Vasil'evich Gritsaev Mikhail Viktorovich Moskalenko Marina Petrovna Ivanova Vasilisa Yur'evna Aksenova Sof'ya Aleksandrovna Tiranova Kudrat Mugutdinovich Abdulkadyrov I S Martynkevich S V Gritsayev M V Moskalenko M P Ivanova V Yu Aksenova S A Tiranova K M Abdulkadyrov |
| author_sort | Irina Stepanovna Martynkevich |
| collection | DOAJ |
| description | Aim. To estimate the extent of FLT3 and NPM1 gene mutations and the impact of mutations of FLT3-ITD on the survival of patients with acute myeloid leukemias (AML).
Materials and methods. The nucleus-containing cells of bone marrow and blood were studied in 43 patients with AML. Polymerase chain reaction analysis of total genomic DNA was applied.
Results. Mutations of FLT3-ITD, FLT3-TDK, and the NPM1 gene were found in 16 (37.2%) patients. A total of 19 mutations were revealed. There were 8 mutations of FLT3-ITD, 5 of FLT3-TKD, and 6 in the NPM1 gene. Single damages to genes were detected in 13 patients: FLT3-ITD in 6 (13.9%), FLT3-TKD in 4 (9.3%), and NPM1 in 3 (7%). Three (7%) patients exhibited 2 mutations simultaneously: in the NPM1 and FLT3-ITD in 2 (4.7%) and in the NPM1 gene and FLT3-TKD in 1 (2.3%). In AML patients with a normal karyotype and the FLT3-ITD-/NPM1- and FLT3-ITD+/ NPM1- genotypes, median overall survival was 17.3 versus 8 months (p = 0.069); and event-free survival (EFS) was 11 versus 5 months (p = 0.026). Univariate analysis established the negative impact of FLT3-ITD mutation on EFS.
Conclusion. The findings allow AML patients with a normal karyotype and the FLT3-ITD-/NPM1- genotypes to be identified as a poor prognosis group. |
| first_indexed | 2024-12-11T08:28:00Z |
| format | Article |
| id | doaj.art-361b220bc6a649f19cff5530e6b31352 |
| institution | Directory Open Access Journal |
| issn | 0040-3660 2309-5342 |
| language | Russian |
| last_indexed | 2024-12-11T08:28:00Z |
| publishDate | 2010-12-01 |
| publisher | "Consilium Medicum" Publishing house |
| record_format | Article |
| series | Терапевтический архив |
| spelling | doaj.art-361b220bc6a649f19cff5530e6b313522022-12-22T01:14:30Zrus"Consilium Medicum" Publishing houseТерапевтический архив0040-36602309-53422010-12-018212333927768FLT3 and NPM1 gene mutations in patients with acute myeloid leukemias and the impact of FLT3-ITD mutations on the survival of patients with a normal karyotypeIrina Stepanovna MartynkevichSergey Vasil'evich GritsaevMikhail Viktorovich MoskalenkoMarina Petrovna IvanovaVasilisa Yur'evna AksenovaSof'ya Aleksandrovna TiranovaKudrat Mugutdinovich AbdulkadyrovI S Martynkevich0S V Gritsayev1M V Moskalenko2M P Ivanova3V Yu Aksenova4S A Tiranova5K M Abdulkadyrov6Russian Research Institute of Hematology and Transfusion, Federal Biomedical AgencyRussian Research Institute of Hematology and Transfusion, Federal Biomedical AgencyRussian Research Institute of Hematology and Transfusion, Federal Biomedical AgencyRussian Research Institute of Hematology and Transfusion, Federal Biomedical AgencyRussian Research Institute of Hematology and Transfusion, Federal Biomedical AgencyRussian Research Institute of Hematology and Transfusion, Federal Biomedical AgencyRussian Research Institute of Hematology and Transfusion, Federal Biomedical AgencyAim. To estimate the extent of FLT3 and NPM1 gene mutations and the impact of mutations of FLT3-ITD on the survival of patients with acute myeloid leukemias (AML). Materials and methods. The nucleus-containing cells of bone marrow and blood were studied in 43 patients with AML. Polymerase chain reaction analysis of total genomic DNA was applied. Results. Mutations of FLT3-ITD, FLT3-TDK, and the NPM1 gene were found in 16 (37.2%) patients. A total of 19 mutations were revealed. There were 8 mutations of FLT3-ITD, 5 of FLT3-TKD, and 6 in the NPM1 gene. Single damages to genes were detected in 13 patients: FLT3-ITD in 6 (13.9%), FLT3-TKD in 4 (9.3%), and NPM1 in 3 (7%). Three (7%) patients exhibited 2 mutations simultaneously: in the NPM1 and FLT3-ITD in 2 (4.7%) and in the NPM1 gene and FLT3-TKD in 1 (2.3%). In AML patients with a normal karyotype and the FLT3-ITD-/NPM1- and FLT3-ITD+/ NPM1- genotypes, median overall survival was 17.3 versus 8 months (p = 0.069); and event-free survival (EFS) was 11 versus 5 months (p = 0.026). Univariate analysis established the negative impact of FLT3-ITD mutation on EFS. Conclusion. The findings allow AML patients with a normal karyotype and the FLT3-ITD-/NPM1- genotypes to be identified as a poor prognosis group.https://ter-arkhiv.ru/0040-3660/article/view/30741flt3-itdflt3-tkdnpm1acute myeloid leukemiaflt3-itdflt3-tkdnpm1normal karyotypesurvival |
| spellingShingle | Irina Stepanovna Martynkevich Sergey Vasil'evich Gritsaev Mikhail Viktorovich Moskalenko Marina Petrovna Ivanova Vasilisa Yur'evna Aksenova Sof'ya Aleksandrovna Tiranova Kudrat Mugutdinovich Abdulkadyrov I S Martynkevich S V Gritsayev M V Moskalenko M P Ivanova V Yu Aksenova S A Tiranova K M Abdulkadyrov FLT3 and NPM1 gene mutations in patients with acute myeloid leukemias and the impact of FLT3-ITD mutations on the survival of patients with a normal karyotype Терапевтический архив flt3-itd flt3-tkd npm1 acute myeloid leukemia flt3-itd flt3-tkd npm1 normal karyotype survival |
| title | FLT3 and NPM1 gene mutations in patients with acute myeloid leukemias and the impact of FLT3-ITD mutations on the survival of patients with a normal karyotype |
| title_full | FLT3 and NPM1 gene mutations in patients with acute myeloid leukemias and the impact of FLT3-ITD mutations on the survival of patients with a normal karyotype |
| title_fullStr | FLT3 and NPM1 gene mutations in patients with acute myeloid leukemias and the impact of FLT3-ITD mutations on the survival of patients with a normal karyotype |
| title_full_unstemmed | FLT3 and NPM1 gene mutations in patients with acute myeloid leukemias and the impact of FLT3-ITD mutations on the survival of patients with a normal karyotype |
| title_short | FLT3 and NPM1 gene mutations in patients with acute myeloid leukemias and the impact of FLT3-ITD mutations on the survival of patients with a normal karyotype |
| title_sort | flt3 and npm1 gene mutations in patients with acute myeloid leukemias and the impact of flt3 itd mutations on the survival of patients with a normal karyotype |
| topic | flt3-itd flt3-tkd npm1 acute myeloid leukemia flt3-itd flt3-tkd npm1 normal karyotype survival |
| url | https://ter-arkhiv.ru/0040-3660/article/view/30741 |
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