CEBPA Full Gene Sequence with Interpretation, Blood
6004 BT GH
Formalin fixed, paraffin-embedded tissue
|Pink top tube 6 mL (K2-EDTA)
3 mL of peripheral blood. Specimens for which the AML blast count is at
least 20% will be tested. Testing on specimens with a lower blast count
may be attempted with approval of lab director. However, such testing
is not recommended due to the increased possibility of a false-negative
Testing is generally not available on a STAT basis. However, expedited
testing can be arranged by contacting the Molecular Pathology
Laboratory at 384-9568 or the Molecular Genetic Pathology Fellow (pager
7-10 working days
Unaffected samples will lack disease-associated CEBPA
mutations, but may harbor previously identified single nucleotide
polymorphisms (SNPs) that are reported as incidental findings.
In the bone marrow, the CCAAT/enhancer-binding protein, alpha (CEBPA)
is a myelomonocytic lineage-specific transcription factor that promotes
myeloid differentiation (1). Mutations in the CEBPA gene have
been reported in acute myelogenous leukemia (AML; 5-14% of cases) and
myelodysplastic syndromes (2-7). In the absence of other genetic
lesions known to confer a poor prognosis (e.g., FLT3-ITD
mutation), mutations in CEBPA are associated with a favorable
prognosis for AML. However, the benefit appears to be restricted to
cases in which there are biallelic CEBPA mutations, often
consisting of two discrete (compound heterozygous) mutations affecting
different functional domains of the CEBPA protein (3-5). A variety of
inactivating point mutations, deletions and insertions have been
described, requiring evaluation of the entire CEBPA coding
1. Zhang P, et al. Immunity 2004;21(6):853-63.
2. Nerlov C. Nature Reviews Cancer 2004;4(5):394-400.
3. Dufour A, et al. J Clin Oncol 2010;28(4):570-7.
4. Wouters BJ, et al. Blood 2009;113(13):3088-91.
5. Taskesan E, et al. Blood 2011;117:2469-75.
6. Gombart AF, et al. Blood 2002;99(4):1332-1340.
7. Shih LY, et al. Clin Cancer Res 2005;11(5):1821-26.
20% mutant allele
PCR amplification of CEBPA-specific fragments followed by DNA
cycle sequencing (Sanger method).