Test Code

M CEBPA*

Associations

Acute myelogenous leukemia (AML)

Reflex testing

Methodology

PCR amplification, fragment analysis, and direct sequencing of the coding and junctional regions of the CEBPA gene.

*Performed by affiliate laboratory

Turnaround Time

10-14 days

Specimen Requirements

5.0 mL (min. 3.0 mL) whole blood or (min. 2.0 mL) bone marrow Heparin, EDTA, or ACD

Specimen Stability

Storage & Handling

Ship at ambient temperature, cool in summer. (Do not allow cool/refrigerated pack to directly contact sample.)

Causes for Rejection

Improper specimen labeling; Insufficient sample volume; Clotted specimen; Specimen older than 7 days

Reference Range

No mutation detected.

Description

Mutations in CEBPA are found in 15-18% of cases of cytogenetically normal AML and are associated with a favorable prognosis. Germline mutations in CEBPA are a cause of nonsyndromic, familial AML. Inheritance appears to be autosomal dominant with high to complete penetrance.

The gene CEBPA encodes a transcription factor important for granulocyte differentiation. Diminished activity contributes to the leukemic transformation of myeloid progenitor cells.

References

1. Pabst T et al. (2008). Somatic CEBPA mutations are a frequent second event in families with germline CEPBA mutations and familial acute myeloid leukemia. J Clin Oncol. 26:5088-93.
2. Arber DA et al. (2008). Acute myeloid leukaemia with recurrent genetic abnormalities. In: Swerdlow SH, Campo E, Harris NL et al., eds. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. 4th ed. Lyon, France: WHO Press. 110-23.
3. Leroy H et al. (2005). CEBPA point mutations in hematological malignancies. Leukemia. 19:329-34.
4. Smith ML et al. (2004). Mutation of CEBPA in familial acute myeloid leukemia. N Engl J Med. 351:2403-7.