b'MolecularDiagnosticsNPM1 TestsClinical Information Test Name Indications for TestingThe Nucleophosmin (NPM1) gene is one of the mostNPM1 mutation analysis (qualitative)At initial diagnosis of AML Favorable prognosis: NPM1 mutation without FLT3 ITDcommonly mutated genes in acute myeloid leukemiaor with FLT3 ITD low Stratification high and low risk AML (AML), occurring in about 35% of AML patients at diagnosis. 1 Intermediate prognosis: NPM1 mutation and FLT3 ITD high ;Assay Type Recurrence of leukemia after induction therapy on The vast majority of NPM1 mutations are insertions in exon- low12 occurring near the C-terminus of the protein that result NPM1without FLT3 ITD or with FLT3 ITD(withoutCapillary Electrophoresis patients not initially screened for NPM1 mutations in cytoplasmic localization. 2Currently there are over 40adverse-risk genetic lesions)known NPM1 mutations, most of which will be detected Poor prognosis: NPM1 wild-type and FLT3 ITD high Method Descriptionwith our assay.It is recommended that AML patients be screened for Clinical studies have found that NPM1 mutationsNPM1 mutations as an effort to assess prognosis andPrimers targeting exon 12 on the NPM1 gene are used to are associated with increased blast counts, higheraid in treatment decisions. Results from NPM1 andamplify the patients DNA. The size of the NPM1 PCR product extramedullary involvement and increased plateletFLT3 mutational screening should be available withinis determined by capillary electrophoresis.counts in AML. 3Furthermore, in the absence of a FLT3 ITD48 to 72 hours (at least in patients eligible for intensiveLabPMM offers the only internationally harmonized assay mutation (or FLT3 ITD with a low ratio), NPM1 mutations arechemotherapy). Utilizing both NPM1 and FLT3 for NPM1 mutations and testing is performed pursuant to associated with a favorable prognosis. 4(mutant:wild-type ratio) mutation status is the mostpatents licensed from TrovaGene, Inc. of San Diego, CA.common molecular method for stratification of theIt has been suggested that the identification of mutationsAML population.in both NPM1 and FLT3 genes allows for the stratification of the AML patients into three different prognostic groups: Interpretation TurnaroundSpecimenShippingSpecimen Time Requirements Conditions StabilityAn interpretive1-3 business days1-3 mL peripheralAmbient or Cool; Room Temp report will be issuedblood in EDTA, do not freezeup to 72 hoursindicating whether aACD or Heparin (peripheral blood or2-8 C upNPM1 mutation wasbone marrow) 0.25-1 mL boneto 7 daysdetectedmarrow in EDTA,Ambient or frozen on References ACD or Heparin dry ice (isolated DNA)250 ng of 1.Thiede C, et al. (2006) Prevalence and prognostic impact of NPM1 mutations in 1485 adult patients with acute myeloidleukemia (AML). Blood 107:4011-4020. previously isolated 2.Falini B. et al. (2007) Translocations and mutations involving the nucleophosmin (NPM1) gene in lymphomas and leukemias.DNA Haematologica 92(4):519-532.3.Dhner K, et al. (2005) Mutant nucleophosmin (NPM1) predicts favorable prognosis in younger adults with acute myeloidleukemia and normal cytogenetics: interaction with other gene mutations. Blood 106(12):3740-3746.4.Dhner H, et al. (2017) Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expertpanel. Blood 129:424-447.20 LabPMM Services Catalog 2021|21'