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Acute Myeloid Leukemia (AML): Laboratory Evaluation

Acute Myeloid Leukemia (AML): Laboratory Evaluation

Test Guide

Acute Myeloid Leukemia (AML): Laboratory Evaluation

  

AML is a heterogeneous disease that involves the clonal expansion of myeloid blasts in the blood, bone marrow, or other tissue.1 Diagnosis requires the detection of these blasts, detection of specific chromosomal translocations, or evidence of myeloid sarcoma.1,2 Once AML is diagnosed, prognosis can be assessed with the help of tests that detect chromosomal and molecular abnormalities. These test results, combined with treatment and clinical history, are used by the World Health Organization to classify AML.1,2 Such classification and prognostic information has an important role in determining an appropriate treatment strategy.3 We provide a suggested algorithm (Figure) for the use of laboratory testing in the diagnosis, classification, and prognostic assessment of AML.

Figure. Use of laboratory testing in AML Diagnosis and prognosis assessment.

After treatment is selected and initiated, treatment response can be monitored by assessing the blast cell percentage in bone marrow using morphology evaluation and immunophenotyping. Individuals who have chromosomal abnormalities at treatment initiation should be monitored for disappearance (indicates remission) and re-emergence (indicates relapse) of these abnormalities.3 PCR-based assays specific for these abnormalities may provide more sensitive detection than FISH or routine chromosome analysis; PCR testing is especially important for monitoring the PML/RARA t(15;17) translocation.3 Monitoring during and after therapy can also identify minimal residual disease (MRD), which helps evaluate the risk of relapse. Examples of markers used in MRD detection include mutations in the FLT3 and NPM1 genes.4

The Table provides an overview of the use of laboratory testing for diagnosing and classifying AML, determining prognosis, and monitoring treatment response.

Table. Tests Used in Diagnosis, Classification, Prognosis, and Management of Acute Myeloid Leukemia (AML)
Test Code

Test Name

Clinical Use
Diagnosis

Prognosis and

Treatment

Selection

Monitoring
90871X Acute Myeloid Leukemia Prognostic Panel
(Normal Karyotype)
Includes NPM1, FLT3, and CEBPA gene mutation analysis
  X  
14995Xa,b AML1/ETO t(8;21), Quantitative Real-Time PCR X X X
15052Xa,b BCR/ABL Gene Rearrangement, Quantitative PCR, Cell-based   X X
14992Xa,b CBFB/MYH11 inv(16), Quantitative Real-Time PCR X X X
90812a CEBPA Mutation Analysis X
14600X Chromosome Analysis, Hematologic Malignancy X X X
19961a c-KIT Mutation Analysis, Cell based X
19960Xa c-KIT Mutation Analysis, Plasma based, Leumeta®   X  
17734X Comprehensive Hematopathology Report
Includes morphology evaluation and, at the discretion of the hematopathologist, may also include immunophenotyping and detection of chromosomal abnormalities.
X X  
TBD DNMT3A Mutation Analysis X
10106Xc FISH, AML, AML1/ETO Translocation 8;21 X X X
10635Xc FISH, AML, CBFB/MYH11, Inversion 16 X X X
14617Xc FISH, AML M3, PML/RARA, Translocation 15;17 X X X
10055Xc FISH, Chromosome 20q Deletion X
12070Xc FISH, CML/ALL, BCR/ABL Translocation 9;22 X X
19799Xc FISH, MDS/Myeloid Panel,-5/5q-, -7/7q-, +8, 20q- X X X
36055Xc FISH, MLL (11q23) Gene Rearrangement X X
90574d,e FLT3 ITD and D835 Variant Detection by PCRf X X
35080Xc

Leukemia/Lymphoma Evaluation
Includes CD2, CD3, CD4, CD5, CD7, CD8, CD10, CD11c, CD13, CD19, CD20, CD23, CD33, CD34, CD38, CD45, CD56, CD64, CD117, HLA-DR, Kappa, and Lambda

X X X
16158Xa,b NPM (Exon 12) Mutation Analysis, Cell-based X X
16159Xa,b NPM (Exon 12) Mutation Analysis, Plasma-based, Leumeta   X X
14994Xa,b PML/RARA t(15;17), Quantitative Real-Time PCR, Cell-based X X X
3542 Tissue, Pathology Report X X X

FISH, fluorescence in situ hybridization; RT, room-temperature; PCR, polymerase chain reaction; ITD, internal tandem duplication.

a This test was developed and its performance characteristics have been determined by Quest Diagnostics Nichols Institute. Performance characteristics refer to the analytical performance of the test.

b Polymerase chain reaction (PCR) is performed pursuant to a license agreement with Roche Molecular Systems, Inc.

c This test was developed and its performance characteristics have been determined by Quest Diagnostics Nichols Institute. It has not been cleared or approved by the U.S. Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. Performance characteristics refer to the analytical performance of the test.

d This test is performed by the Laboratory for Personalized Molecular Medicine.™ This test was developed and its performance characteristics determined by the Laboratory for Personalized Molecular Medicine. It has not been cleared or approved by the U.S. Food and Drug Administration. However, such approval is not required for clinical implementation, and test results have been shown to be clinically useful. The Laboratory for Personalized Molecular Medicine is CLIA certified to perform high complexity testing.

e FLT3 mutation testing is performed pursuant to patents licensed from Takara Bio of Otsu, Japan.

f The prognostic significance of the FLT3 D835 mutation is less clear than that of FLT3-ITD mutations.1

References

  1. Vardman JW, Brunning RD, Aruber DA, et al. Introduction and overview of the classification of the myeloid neoplasms. In: Swerdlow SH, Campo E, Harris NL, et al. eds. WHO Classification of Tumours of Hematopoietic and Lymphoid Tissues. Lyon, France: IARC Press; 2008:18-30.

  2. Arber DA, Brunning RD, Le Beau MM, et al. Acute myeloid leukemia with recurrent genetic abnormalities. In: Swerdlow SH, Campo E, Harris NL, et al. eds. WHO Classification of Tumours of Hematopoietic and Lymphoid Tissues. Lyon, France: IARC Press; 2008:110-123.

  3. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology. Acute Myeloid Leukemia. Version 2.2011. http://www.nccn.org/professionals/physician_gls/f_guidelines.asp. Updated December 21, 2010. Accessed October 18, 2011.

  4. Kern W, Haferlach C, Haferlach T, et al. Monitoring of minimal residual disease in acute myeloid leukemia. Cancer. 2008;112:4-16.
     

 Content reviewed 12/2011

 

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