FLT3 gene, ITD mutation
Acute myelogenous leukemia (AML)
FLT3 is ordered as part of the AML mutational profile. A negative result for both FLT3 and NPM1 will automatically reflex to CEBPA mutation analysis [CEBPA
Polymerase chain reaction (PCR) and capillary gel electrophoresis.
Testing will be performed at Laboratory for Personalized Molecular Medicine (LabPMM.com) of San Diego, California pursuant to patents licensed from Takara Bio of Otsu, Japan.
5.0 mL (min. 3.0 mL) whole blood or (min. 2.0 mL) bone marrow EDTA, Sodium Heparin or ACD
Stable 18-25°C for 1 week
Stable 4°C up to 14 days
Storage & Handling
Ship at ambient temperature, cool in summer. (Do not allow cool/refrigerated pack to directly contact sample.)
Causes for Rejection
Improper specimen labeling; Insufficient sample volume; Clotted specimen; Specimen older than 7 days
Internal tandem duplication (ITD) or missense (D835) mutations detected / not detected
Intended for use as a screening test in patients with AML to assist with stratification and selection of post-remission therapies.
Internal tandem duplications in exons 14 and 15 of the FMS-related tyrosine kinase 3 (FLT3) gene are found in ~30% of cytogenetically normal AML patients. The duplications result in an abnormally active protein that promotes proliferation and survival of leukemic cells. FLT3 mutations are associated with a poor prognosis.
- Acute myeloid leukemia, NCCN clinical practice guidelines in oncology (2008).
- Mrozek K et al. (2007). Clinical relevance of mutations and gene-expression changes in adult acute myeloid leukemia with normal cytogenetics: are we ready for a prognostically prioritized molecular classification? Blood. 109:431-448.
- Meshinchi S et al. (2006). Clinical implications of FLT3 mutation in pediatric acute myeloid leukemia. Blood. 108(12):3654-3661.
- Kiyoi H and Naoe T. (2006). Biology, clinical relevance, and molecularly targeted therapy in acute leukemia with FLT3 mutation. Int J Haematol. 83(4):301-308.
- Fohling S et al. (2005). Genetics of myeloid malignancies: pathogenetic and clinical implications. J Clin Oncol. 23(26):6285-6295.
- Kiyoi H et al. (2005). Clinical significance of FLT3 in leukemia. Int J Haematol. 82(2):85-92.
- Yamamoto Y et al. (2001). Activating mutation of D835 within the activation loop of FLT3 in human hematologic malignancies. Blood. 97(8):2434-2439.