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Updated: May 1, 2026
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Detection and biological characteristic of FLT3 gene mutations in children with acute leukemia
Nahid Nasiri1, Maryam Shaikhy2, Farhad Zaker3
1Department of Hematology, School of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran.farhadz20@yahoo.com.
Introduction:
FLT3 ITD and D835 mutations occur in high frequency in AML and to a lower rate in ALL patients with poor prognosis.
Methods:
ITD and D835 mutations were studied in 100 diagnosed acute leukemia patients including 27 AML and 73 ALL with various FAB classifications by PCR and PCR-RFLP, respectively. Subsequently, PCR products of positive samples were confirmed by sequencing analyses.
Results:
ITD mutations occurred in 10% of all pediatric acute leukemia, including AML and ALL. 25.9% of AML patients harbor a mutation in the ITD in various subtypes. The frequency of ITD mutations was 4% in ALL. Various insertions of nucleotides in ITD were observed, similar to those described in the literature previously.
Conclusion:
These preliminary data suggest that flt3-ITD mutations may play an important role in leukemogenesis in a proportion of children, particularly in the case of AML.
Insights
FLT3 ITD mutations are present in pediatric acute leukemia, particularly in acute myeloid leukemia (AML) cases. These findings suggest a role for FLT3 mutations in childhood leukemia development.
Area of Science:
- Hematology
- Molecular Biology
- Oncology
Background:
- FMS-like tyrosine kinase 3 (FLT3) internal tandem duplication (ITD) and D835 mutations are frequently observed in acute myeloid leukemia (AML) and less commonly in acute lymphoblastic leukemia (ALL).
- These mutations are associated with a poorer prognosis in leukemia patients.
Purpose of the Study:
- To investigate the frequency and spectrum of FLT3 ITD and D835 mutations in pediatric acute leukemia patients.
- To assess the potential role of these mutations in leukemogenesis.
Main Methods:
- Studied 100 pediatric acute leukemia patients (27 AML, 73 ALL) using Polymerase Chain Reaction (PCR) and PCR-restriction fragment length polymorphism (PCR-RFLP).
- Confirmed positive mutation samples through sequencing analysis.
Main Results:
- FLT3 ITD mutations were found in 10% of all pediatric acute leukemia cases.
- The frequency of ITD mutations was 25.9% in AML and 4% in ALL.
- Observed various nucleotide insertions in FLT3 ITD, consistent with prior literature.
Conclusions:
- Preliminary data indicate FLT3 ITD mutations may contribute to leukemogenesis in a subset of children.
- FLT3 ITD mutations appear particularly relevant in pediatric AML.
