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Acute Myeloid Leukemia (AML), Rapid Mutation Panel
Test Code12346
CPT Codes
81450
Includes
CEBPA Mutation
NPM1 Mutation
FLT3 ITD/TKD
TP53 Mutation
c KIT Mutation
IDH1/IDH2 Mutation
CEBPA Mutation Analysis
NPM1 Mutation Analysis
FLT3 Mutation Analysis
TP53 Somatic Mutation, Prognostic
c KIT Mutation Analysis
IDH1/IDH2 Mutation Analysis
Mutations detected in FLT3, IDH1 and IDH2 will be communicated directly to clients as soon as available.
NPM1 Mutation
FLT3 ITD/TKD
TP53 Mutation
c KIT Mutation
IDH1/IDH2 Mutation
CEBPA Mutation Analysis
NPM1 Mutation Analysis
FLT3 Mutation Analysis
TP53 Somatic Mutation, Prognostic
c KIT Mutation Analysis
IDH1/IDH2 Mutation Analysis
Mutations detected in FLT3, IDH1 and IDH2 will be communicated directly to clients as soon as available.
Preferred Specimen
5 mL blood or 3 mL bone marrow collected in an EDTA (lavender-top) tube
Minimum Volume
3 mL blood • 1 mL bone marrow
Other Acceptable Specimens
5 mL blood or 3 mL bone marrow collected in a sodium heparin (green-top) tube, or extracted DNA from CLIA approved lab in leak-proof container
Instructions
Specimen viability decreases during transit for blood and bone marrow samples. Send specimens to testing lab for viability determination. Do not freeze. Do not reject.
Please submit completed requisition form with information.
Please submit completed requisition form with information.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: Preferred
Refrigerated: Acceptable
Frozen: Unacceptable
Refrigerated: Acceptable
Frozen: Unacceptable
Methodology
Next Generation Sequencing (NGS) • Fragment Analysis • Polymerase Chain Reaction (PCR) • Sanger Sequencing
Setup Schedule
Set up: Daily; Report available: 5-7 days
Reference Range
See Laboratory Report
Clinical Significance
FLT3 testing is established as a prognostic marker associated with poor prognosis (high percentage of bone marrow blast cells, increased risk of relapse from CR, and reduced survival). However, with the advent of FLT3 inhibitors it is now also a test for targeted therapy in AML. The multi-kinase inhibitor Midostaurin, in combination with chemotherapy, is a targeted agent that significantly prolongs survival in patients with newly diagnosed FLT3-mutated AML and was recently approved by the Food and Drug Administration (FDA). Recently, the European LeukemiaNet recommends FLT3 testing (both tyrosine kinase domain; TKD and internal tandem duplication; ITD mutations) for all patients with AML, with results required within 3 days.
In de novo AML, IDH1/2 mutations are associated with older age, normal karyotype, and NPM1 mutations. IDH1/2 and TET2 mutations are mutually exclusive. IDH1 mutations are found in 6-16% of de novo AML and are associated with a poorer outcome in patients treated with intensive chemotherapy, even in patients with favorable prognosis as per European LeukemiaNet (ELN) classification. IDH2 mutations are found in 8-19% of de novo AML. The prognostic impact of IDH2 mutations differs strongly and is less predictive overall. In the past 2 years, two mutant IDH (mutIDH) inhibitors, Enasidenib (AG-221), and Ivosidenib (AG-120), have been FDA-approved for IDH-mutant relapsed or refractory acute myeloid leukemia (AML) based on phase 1 safety and efficacy data and continue to be studied in trials in hematologic malignancies.
NPM1 mutations have an overall favorable effect on the outcome for AML. Patients with FLT3-ITD and NPM1 mutations have improved outcomes when compared to patients with those who only have the FLT3-ITD mutation, but those with both mutations had a poorer prognosis than patients with only NPM1 mutations.
CEBPA mutated AML into separates into 2 prognostic subsets: (1) CEBPA double-mutated AML and (2) CEBPA single-mutated AML. Favorable outcome was restricted to double-mutated AML cases and is an independent prognostic factor for a favorable outcome. FLT3-ITD, NPM1, ASXL1 and RUNX1 mutations are detected more frequently in CEBPA single-mutated AML.
TP53 mutations correlate with poor response to chemotherapy and poor survival in patients with or without complex karyotype. There is a decreased frequency of FLT3, and NPM1 mutations in TP53 mutated AML.
In de novo AML, IDH1/2 mutations are associated with older age, normal karyotype, and NPM1 mutations. IDH1/2 and TET2 mutations are mutually exclusive. IDH1 mutations are found in 6-16% of de novo AML and are associated with a poorer outcome in patients treated with intensive chemotherapy, even in patients with favorable prognosis as per European LeukemiaNet (ELN) classification. IDH2 mutations are found in 8-19% of de novo AML. The prognostic impact of IDH2 mutations differs strongly and is less predictive overall. In the past 2 years, two mutant IDH (mutIDH) inhibitors, Enasidenib (AG-221), and Ivosidenib (AG-120), have been FDA-approved for IDH-mutant relapsed or refractory acute myeloid leukemia (AML) based on phase 1 safety and efficacy data and continue to be studied in trials in hematologic malignancies.
NPM1 mutations have an overall favorable effect on the outcome for AML. Patients with FLT3-ITD and NPM1 mutations have improved outcomes when compared to patients with those who only have the FLT3-ITD mutation, but those with both mutations had a poorer prognosis than patients with only NPM1 mutations.
CEBPA mutated AML into separates into 2 prognostic subsets: (1) CEBPA double-mutated AML and (2) CEBPA single-mutated AML. Favorable outcome was restricted to double-mutated AML cases and is an independent prognostic factor for a favorable outcome. FLT3-ITD, NPM1, ASXL1 and RUNX1 mutations are detected more frequently in CEBPA single-mutated AML.
TP53 mutations correlate with poor response to chemotherapy and poor survival in patients with or without complex karyotype. There is a decreased frequency of FLT3, and NPM1 mutations in TP53 mutated AML.
