FLT3-ITD Mutation Analysis

FLT3 ITD MUTATION ANALYSIS

Acute myelogenous leukemia (AML) is a rare but devastating disease resulting in 1.2% of all cancer related deaths. One of the most common genes mutated in AML is the FMS-Iike tyrosine kinase 3, FLT3. FLT3 is a type Ill tyrosine kinase receptor expressed on the surface of hematopoietic stem cells that regulates differentiation and proliferation of hematopoietic elements. A point mutation in the activation loop of the tyrosine kinase domain (TKD) or an internal tandem duplications (ITD) in the juxtamembrane domain cause constitutive activation of the FLT3 receptor. Studies have shown that AML patients with FLT3-ITD have a lower complete remission rate (78% vs 84%), shorter disease-free survival (30% vs 46% at 5 years) and lower overall survival rate (33% vs 44%) at 5 years. FLT3-TKD mutation has unclear prognosis. Assessing the mutation status of FLT3 may impact diagnosis, prognosis and therapy of patients affected with AML. FLT3-ITD or TKD positive patients may be eligible for therapy with XOSPATA, an FDA-approved drug that inhibits ITD and TKD mutations.  

Blood, Bone Marrow

Lavender Top Tube

Container/Tube: Lavender top tube (EDTA)  Specimen: 1 - 3 mL peripheral blood or Bone marrow Transport Temperature: Room Temperature or 4C

Room Temperature or 4C

Specimens are stable for a week refrigerated.

Polymerase chain reaction (PCR) amplification of FLT3 ITD followed by fragment analysis by capillary electrophoresis, TKD is performed by PCR RFLP (EcorRV) followed by capillary electrophoresis.

Monday through Friday TAT: 8 Calendar days

Northwell Health Laboratories

81245 81246

1863168