AML Prognostic Profiling
Using the AML Reflex Panel & NeoTYPE™ AML Prognostic Profile

Molecular stratification for acute myeloid leukemia patients with normal or intermediate-risk cytogenetics

Acute myeloid leukemia is a genetically and biologically heterogeneous disorder, though up to one half of cases have normal or intermediate-risk karyotypes.1 Discovery of numerous mutations involved in the pathogenesis and progression of AML has been especially useful in this group to further classify patients and predict disease course. Molecular profiling in AML patients with intermediate-risk cytogenetic abnormalities can improve risk stratification by confirming and refining intermediate risk, or reclassifying patients to favorable or unfavorable risk categories depending on the combination of mutations detected.2-4

AML Graph 

Frequency and effect of AML mutations tested by the NeoTYPE AML Prognostic Profile.1-5

Frequency and prognostic influence of each mutation is shown for the cytogenetic intermediate-risk group, though significance may be modified by co-occurrence of other mutations. Many patients will have mutations in more than one of these genes.

Test overview

NeoGenomics offers cytogenetic and molecular profiling of AML in a convenient testing pathway, the AML Reflex Panel. With this panel, molecular profiling of eight genes is automatically performed when indicated by a normal or intermediate-risk cytogenetics result. For patients whose karyotype is already known, the molecular profile may be ordered separately as the NeoTYPE AML Prognostic Profile.

Risk stratification at NeoGenomics is based on SWOG/ECOG cytogenetic criteria6, combined molecular and cytogenetic classification by the European LeukemiaNet1, and emerging research.2-4

Contact us for more information about the AML Prognostic Profile.

 

Details and ordering information

AML Reflex Panel

The AML Reflex Panel includes cytogenetics followed by the NeoTYPE AML Prognostic Profile when chromosomes indicate intermediate risk as determined by SWOG/ECOG criteria (normal karyotype, +6, +8, -Y, and/or del[12p]).

Specimen requirements:

  • Bone marrow: 1-2 mL in sodium heparin tube and 2 mL in EDTA tube OR
  • Peripheral blood: 2-5 mL in sodium heparin tube and 5 mL in EDTA tube

TAT: 10-12 days if cytogenetics is reflexed to molecular testing, or 3-5 days without reflex

NeoTYPE AML Prognostic Profile

The NeoTYPE AML Prognostic Profile can be ordered separately or as part of the AML Reflex Panel. This NeoTYPE Profile includes bi-directional sequencing and mutation analysis of select exons of the genes CEBPA, DNMT3A, FLT3 (ITD and tyrosine kinase domain mutations), IDH1, IDH2, NPM1, RUNX1, and WT1. Fragment analysis is performed on select genes for enhanced detection of low levels of insertion/deletion mutations. All genes are analyzed concurrently. Testing can be performed on plasma for increased sensitivity when adequate leukemic cells are not available.

Specimen requirements (for the Profile separate from AML Reflex Panel):

  • Bone marrow: 2 mL in EDTA tube OR
  • Peripheral blood: 5 mL in EDTA tube

TAT: 7 days

 

Follow-up testing options for favorable and unfavorable cytogenetic risk groups

The NeoTYPE AML Prognostic Profile is appropriate for patients with normal or other intermediate-risk cytogenetics. NeoGenomics offers the following molecular tests for diagnostic confirmation, monitoring, or assessing prognosis in AML with favorable and unfavorable cytogenetics.

Core-Binding Factor AML:
inv(16), CBFB-MYH11
RUNX1-RUNX1T1, t(8;21)
c-KIT Mutation Analysis

APL (AML M3):
PML-RARA, t(15;17)

Complex Karyotype:
TP53 Mutation Analysis

References:

  1. Dohner H, Estey EH, Amadori S, et al. Diagnosis and management of AML in adults: recommendations from an international expert panel, on behalf of the European LeukemiaNet. Blood. 2010;115(3):453-474.
  2. Patel JP, Gonen H, Figueroa ME, et al. Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. N Engl J Med. 2012;366(12):1079-1089.
  3. Roboz GJ. Current treatment of acute myeloid leukemia. Cur Opin Oncol. 2012;24:711-719.
  4. Dohner H, Gaidzik VI. Impact of genetic features on treatment decisions in AML. Am Soc Hematol Edu Program. 2011;2011:36-42.
  5. Greif PA, Konstandin NP, Metzeler KH, et. al. RUNX1 mutations in cytogenetically normal acute myeloid leukemia are associated with a poor prognosis and up-regulation of lymphoid genes. Haematologica. 2012 Dec; 97(12):1909-15.
  6. Slovak ML, Kopecky KJ, Cassileth PA, et al. Karyotypic analysis predicts outcome of preremission and postremission therapy in adult acute myeloid leukemia: a Southwest Oncology Group/Eastern Cooperative Oncology Group study. Blood. 2000;96:4075–4083.