NPM1 and FLT3-ITD/TKD Gene Mutations in Acute Myeloid Leukemia
Background: A number of mutations have been reported to occur in patients with acute myeloid leukemia (AML), of which NPM1 and FLT3 gene mutations are the commonest and have important diagnostic and therapeutic implications, respectively. Material and Methods: Molecular testing for NPM1 and FLT3...
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| Language: | English |
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Tehran University of Medical Sciences
2021-01-01
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| Series: | International Journal of Hematology-Oncology and Stem Cell Research |
| Subjects: | |
| Online Access: | https://ijhoscr.tums.ac.ir/index.php/ijhoscr/article/view/1191 |
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| author | Shano Naseem Jogeshwar Binota Harpreet Virk Neelam Varma Subhash Varma Pankaj Malhotra |
| author_facet | Shano Naseem Jogeshwar Binota Harpreet Virk Neelam Varma Subhash Varma Pankaj Malhotra |
| author_sort | Shano Naseem |
| collection | DOAJ |
| description | Background: A number of mutations have been reported to occur in patients with acute myeloid leukemia (AML), of which NPM1 and FLT3 gene mutations are the commonest and have important diagnostic and therapeutic implications, respectively.
Material and Methods: Molecular testing for NPM1 and FLT3 genes was performed in 92 de-novo AML patients. The frequency and characteristics of NPM1 and FLT3 mutations were analyzed.
Results: Nucleophosmin 1(NPM1) and FMS-like tyrosine kinase 3 (FLT3) mutations were seen in 22.8% and 16.3% of patients, respectively. Amongst FLT3 mutations, FLT3-ITD mutation was seen in 8.7% cases, FLT3-TKD in 5.4%, and FLT3-ITD+TKD in 2.2% cases. Certain associations between the gene mutations and clinical characteristics were found, including in NPM1 mutated group- female preponderance, the higher incidence in M4/M5 categories and decreased expression of CD34 and HLA-DR; and in FLT3-ITD mutated group- higher age of presentation, higher total leucocyte count and blast percentage.
Conclusion- AML patients with NPM1 and FLT3 mutations have differences in clinical and hematological features, which might represent their different molecular mechanisms in leukemogenesis. The frequency of NPM1 and FLT3 mutations in this study was comparable to reports from Asian countries but lower than that reported from western countries. However, as the number of patients in the study was less, a larger number of patients need to be studied to corroborate these findings |
| first_indexed | 2024-03-12T11:08:06Z |
| format | Article |
| id | doaj.art-f76a5bd56b784dad9ddaf5dde3f15323 |
| institution | Directory Open Access Journal |
| issn | 2008-2207 |
| language | English |
| last_indexed | 2024-03-12T11:08:06Z |
| publishDate | 2021-01-01 |
| publisher | Tehran University of Medical Sciences |
| record_format | Article |
| series | International Journal of Hematology-Oncology and Stem Cell Research |
| spelling | doaj.art-f76a5bd56b784dad9ddaf5dde3f153232023-09-02T03:40:36ZengTehran University of Medical SciencesInternational Journal of Hematology-Oncology and Stem Cell Research2008-22072021-01-0115110.18502/ijhoscr.v15i1.5246NPM1 and FLT3-ITD/TKD Gene Mutations in Acute Myeloid LeukemiaShano Naseem0Jogeshwar Binota1Harpreet Virk2Neelam Varma3Subhash Varma4Pankaj Malhotra5Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, IndiaDepartment of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, IndiaDepartment of Pathology, Postgraduate Institute of Medical Education and Research, Chandigarh, IndiaDepartment of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, IndiaDepartment of Internal Medicine, Postgraduate Institute of Medical Education and Research, Chandigarh, IndiaDepartment of Internal Medicine, Postgraduate Institute of Medical Education and Research, Chandigarh, IndiaBackground: A number of mutations have been reported to occur in patients with acute myeloid leukemia (AML), of which NPM1 and FLT3 gene mutations are the commonest and have important diagnostic and therapeutic implications, respectively. Material and Methods: Molecular testing for NPM1 and FLT3 genes was performed in 92 de-novo AML patients. The frequency and characteristics of NPM1 and FLT3 mutations were analyzed. Results: Nucleophosmin 1(NPM1) and FMS-like tyrosine kinase 3 (FLT3) mutations were seen in 22.8% and 16.3% of patients, respectively. Amongst FLT3 mutations, FLT3-ITD mutation was seen in 8.7% cases, FLT3-TKD in 5.4%, and FLT3-ITD+TKD in 2.2% cases. Certain associations between the gene mutations and clinical characteristics were found, including in NPM1 mutated group- female preponderance, the higher incidence in M4/M5 categories and decreased expression of CD34 and HLA-DR; and in FLT3-ITD mutated group- higher age of presentation, higher total leucocyte count and blast percentage. Conclusion- AML patients with NPM1 and FLT3 mutations have differences in clinical and hematological features, which might represent their different molecular mechanisms in leukemogenesis. The frequency of NPM1 and FLT3 mutations in this study was comparable to reports from Asian countries but lower than that reported from western countries. However, as the number of patients in the study was less, a larger number of patients need to be studied to corroborate these findingshttps://ijhoscr.tums.ac.ir/index.php/ijhoscr/article/view/1191Acute myeloid leukemia; Nucleophosmin 1(NPM1) mutation; FMS-like tyrosine kinase 3 (FLT3) mutation |
| spellingShingle | Shano Naseem Jogeshwar Binota Harpreet Virk Neelam Varma Subhash Varma Pankaj Malhotra NPM1 and FLT3-ITD/TKD Gene Mutations in Acute Myeloid Leukemia International Journal of Hematology-Oncology and Stem Cell Research Acute myeloid leukemia; Nucleophosmin 1(NPM1) mutation; FMS-like tyrosine kinase 3 (FLT3) mutation |
| title | NPM1 and FLT3-ITD/TKD Gene Mutations in Acute Myeloid Leukemia |
| title_full | NPM1 and FLT3-ITD/TKD Gene Mutations in Acute Myeloid Leukemia |
| title_fullStr | NPM1 and FLT3-ITD/TKD Gene Mutations in Acute Myeloid Leukemia |
| title_full_unstemmed | NPM1 and FLT3-ITD/TKD Gene Mutations in Acute Myeloid Leukemia |
| title_short | NPM1 and FLT3-ITD/TKD Gene Mutations in Acute Myeloid Leukemia |
| title_sort | npm1 and flt3 itd tkd gene mutations in acute myeloid leukemia |
| topic | Acute myeloid leukemia; Nucleophosmin 1(NPM1) mutation; FMS-like tyrosine kinase 3 (FLT3) mutation |
| url | https://ijhoscr.tums.ac.ir/index.php/ijhoscr/article/view/1191 |
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