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CEBPA Mutation

Item Value
Approval req'd? No
Available Stat? No
Test code CEBPA
Test group AML molecular markers
Performed by ARUP
Sendout? Yes
Method PCR, sequencing
Container type Lavendar top vacutainer
Amount to Collect
EDTA whole blood 5 mL
Bone marrow aspirate in EDTA 3 mL
Sample type EDTA whole blood or bone marrow aspirate
Preferred volume
EDTA whole blood 5 mL
Bone marrow aspirate in EDTA 3 mL
Min. Volume
EDTA whole blood 1 mL
Bone marrow aspirate in EDTA 1 mL
Processing notes Deliver tube to Hematology for processing. Do not freeze. Ship at room temp or 4 degrees C. Order ARUP test code # 2004247.
Normal range Negative for mutation
Synonyms CCAAT/enhancer-binding protein alpha
Stability Room temperature 1 week, refrigerated 2 weeks
Turn around times 2 weeks
Additional information CEBPA mutations have been show to have clinical significance in patients with normal cytogenetic acute myeloid leukemia. CEBPA mutations have been identified in a subset of acute myeloid leukemia (AML) patients (5-14%). Determination of the clinical characteristics of patients with CEBPA mutations is still evolving. Initial studies were performed comparing CEBPA mutation positive, cytogenetically normal, AML patients with 'wild type' AML (absence of NPM1, FLT3-ITD or CEBPA mutations). Both overall survival and relapse free survival were seen to be improved in patients with CEBPA patients in comparison to 'wild type' AML. Further study differentiated between patients with single CEBPA mutations verses double CEBPA mutations. It was seen that the favorable outcome occurs only in patients with two CEBPA mutations, whereas those with a single CEBPA mutation have survival characteristics similar to 'wild type' AML. Understanding of the biology underlying these findings suggest that the mutations should be found on separate alleles for the favorable outcome (roughly 90% of double CEBPA mutations have been shown to be biallelic). In addition, the favorable outcome of CEBPA mutations is negated in the presence of a FLT-ITD mutation or non-core binding factor chromosomal abnormalities. Therefore, it is suggested that the results of this study be used in conjunction with the recent literature to best determine the clinical significance of the findings.

In this assay, DNA is chosen as a starting material for detection of CEBPA mutations. Because this assay relies on sequencing methodology, it should be performed on diagnostic specimens in which the blast percent is high, so optimally at diagnosis. (Sequencing assay methodology requires ~20% involvement for mutation detection). This test is not intended for minimal residual disease detection.


1 Renneville et al. N Engl J Med 358;18 1909-1918 (2008)
2 Wouters et al. Blood. 113;13 3088-3091 (2009)
3 Pabst et al. Brit J Canc. 100, 1343-1346 (2009)
4 Renneville et al. Blood. 113 : 5090-5093 (2009)
CPT coding 83891-90, 83894-90, 83904-90, 83898-90, 83912-90
Last Updated 2/14/2013 12:19:02 PM
Entry Number 1362
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