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CEBPA Mutation Analysis

Test Code

M CEBPA*

Associations

Acute myelogenous leukemia (AML)

Reflex testing
CEBPA is an automatic reflex test from AML Mutational Analysis Profile when FLT3 and NPM1 are both negative
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
Stable 18-25°C for 1 week
Stable 4°C for up to 14 days
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.