FLT3-ITD, FLT3-TKD, NPM1 by PCR

Minimum of 1 mL whole blood in a purple (EDTA) or pink top tube (EDTA); minimum of 1 mL of bone marrow aspirate in a purple, pink, or green (heparin) top tube.

FLT3 is a receptor tyrosine kinase that is expressed on early hematopoietic progenitor cells and plays an important role in stem cell survival and differentiation. Internal tandem duplication mutations arise from duplications of the juxtamembrane portion of the gene and result in constitutive activation of the FLT3 protein. This mutation has been identified in ~20-30% of patients with acute myelogenous leukemia (AML) and appears to be associated with a worse prognosis. Mutations in the tyrosine kinase domain of FLT3 gene (FLT3-TKD) have also been described in AML. FLT3-TKD mutations arise in the activation loop of FLT3, represented as point mutations in codon D835 or deletion of codon I836. These mutations lead to activation of the receptor tyrosine kinase.

The Nucleophosmin (NPM1) gene is one of commonly mutated genes in acute myeloid leukemia (AML), occurring in about 35% of AML patients at diagnosis and 60% of adult cytogenetically normal AML (CN-AML). The vast majority of NPM1 mutations are insertions in the last exon occurring near the C-terminus of the protein resulting in cytoplasmic localization. NPM1 insertion mutations, in conjunction with a normal karyotype and the absence of the FLT3 mutation, are associated with a good response to induction chemotherapy.

Copy of the referring client's requisition form to accompany specimen.

Refrigerated: 5 days; ambient (room temperature): 3 days; specimen must be received by laboratory within 7 days of collection.

Frozen specimen; clotted or grossly hemolyzed specimens; serum; specimens without 2 patient identifiers; serum or plasma, aliquots (previously open containers); specimen that were received >7 days after collection.

Whole blood and bone marrow - 1 week.

79210-1; 54447-8; 92843-2; 54447-8; 54448-6; 75034-9