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Published on: September 20, 2016
FLT3 mutations in acute myeloid leukemia
1Department of Infectious Diseases, Nagoya University School of Medicine, Japan.
Abstract:
The prevalence of an internal tandem duplication (ITD) of the juxtamembrane domain-coding sequence and a missense mutation of D835 within the kinase domain of the FLT3 gene is 15-35% and 5-10% of adults with acute myeloid leukemia (AML), respectively. In addition, point mutations, deletions, and insertions have been found in the juxtamembrane domain and in the other codons within the kinase domain, though these are less common. Several large-scale studies in well-documented patients published to date have demonstrated that FLT3 mutations are strongly associated with a poor prognosis and a high leukemia cell count in patients with AML, suggesting that FLT3 mutations are involved in disease progression. Because the detection of FLT3 mutations is fast, easy, and inexpensive, mutation analysis should be performed as a routine test. This chapter describes methods for detecting ITD and D835 mutations in the FLT3 gene.
Insights
FLT3 mutations, including internal tandem duplications (ITD) and D835 mutations, are common in acute myeloid leukemia (AML) and linked to poor prognosis. Routine genetic testing for these FLT3 mutations is recommended for AML patients.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Internal tandem duplication (ITD) and D835 mutations in the FLT3 gene are prevalent in adult acute myeloid leukemia (AML), occurring in 15-35% and 5-10% of cases, respectively.
- FLT3 mutations are associated with poor prognosis and increased leukemia cell counts in AML patients, indicating their role in disease progression.
- Other less common mutations, including point mutations, deletions, and insertions, can also occur in the FLT3 gene's juxtamembrane and kinase domains.
Purpose of the Study:
- To describe methods for detecting internal tandem duplication (ITD) and D835 mutations in the FLT3 gene.
- To highlight the clinical significance of FLT3 mutations in acute myeloid leukemia (AML).
Main Methods:
- Describes established laboratory techniques for identifying specific FLT3 mutations.
- Focuses on the detection of ITD and D835 mutations, which are common in AML.
Main Results:
- FLT3 mutations are common in adult AML.
- FLT3 mutations are associated with a poor prognosis and high leukemia cell counts.
- Mutation analysis for FLT3 is fast, easy, and inexpensive.
Conclusions:
- FLT3 mutation analysis should be a routine diagnostic test for acute myeloid leukemia (AML) patients.
- Early detection of FLT3 mutations aids in prognosis assessment and treatment planning.
