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General
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Clinical Use:
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FLT3 gene mutations ITD and TKD (D835/I836 codon mutations) result in constitutive activation of the FLT3 protein and have been found in 24% and 7% of adult AML patients respectively. ITD mutations are reported in 15% of paediatric AML patients. They appear to be a poor prognostic factor associated with an increased risk of relapse in patients less than 60 years of age with a normal karyotype. This association is strongest in relation to ITD mutations but has also been indicated in some studies for TKD mutations. However the prognostic significance of the TKD mutations remains uncertain and they are not tested for routinely.
FLT3 and NPM1 mutation studies are recommended on AML patients at diagnosis and relapse. Results can be used to assist treatment stratification in normal karyotype (intermediate prognosis) AML.
Note that these markers and/or the assays used to detect them are not suitable to monitor residual disease. Bone marrow is the sample of choice as FLT3 and NPM1 mutations are present in AML blast cells, although blood can be tested if there is a high number of circulating blasts. False negatives may be reported if the population of cells carrying the FLT3 mutation and/or the number of blast cells are too few in the sample. |
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Availability:
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As required. |
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Aliases/Synonyms:
| Internal Tandem Duplication FLT3, ITD, MGM, TKD, |
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Code:
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HFITD/HFTKD |
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Handling Instructions (to laboratory):
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Send sample ambient. |
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Hyperlink:
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Reference Interval:
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Results for the FLT3 mutation studies are reported as detected, not detected or a minor population of cells carrying the mutation was detected. A final report summary provides comment on the combined prognostic impact of the mutations detected.
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Collection Requirements
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Container:
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EDTA (LAVENDER), |
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Sample Type:
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Blood; Bone Marrow. For other specimen types, please contact the laboratory on (08) 6152 8118 to discuss. |
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Minimum Collection Volume:
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Collection Instructions:
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Processing Requirements
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Alternate Containers:
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Processing Instructions:
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Store sample at room temperature. |
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Minimum Assay Volume:
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3mL Blood; 1mL Bone Marrow |
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Stability:
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96 hours ambient |
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Transport Instructions (to testing laboratory):
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Send sample ambient. |
Testing Locations
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Performed at:
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Section
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Department
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Site
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Contact Phone
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| Molecular |
Haematology |
Fiona Stanley Hospital |
6152 8118 |
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Last Updated : 15-04-2025 09:50 |