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Interpretive Handbook

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Test 60444 :
CEBPA Mutations, Gene Sequencing

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Acute myeloid leukemia (AML) with mutated CCAAT/enhancer-binding protein alpha gene (CEBPA) is a diagnostic category in the current WHO classification of hematopoietic neoplasms.(1) In addition, CEBPA mutation on both alleles (so-called double mutation status) is considered a good prognostic feature in adults with newly diagnosed AML who have a normal karyotype or do not contain an alternate diagnostic genetic abnormality.(2,3) Thus, evaluation for CEBPA mutations is necessary for accurate diagnosis in the current classification system and contributes prognostic information for a large group of AML patients.

Useful For Suggests clinical disorders or settings where the test may be helpful

Initial evaluation of acute myeloid leukemia, both for assigning an appropriate diagnostic subclassification and as an aid for determining prognosis.

Interpretation Provides information to assist in interpretation of the test results

The results will be given as positive or negative for CEBPA mutation and, if positive, the mutation will be described and single or double mutation status will be indicated.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

The assay is performed using Sanger sequencing, which has a sensitivity of 20%. This means that 20% or more of the DNA in the sample must be mutated to be detected. Consequently, this test is intended for use at the time of diagnosis, and not for disease monitoring.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided

Clinical References Provides recommendations for further in-depth reading of a clinical nature

1. Swerdlow S, Campo E, Harris N, et al: WHO classification of tumours of haematopoietic and lymphoid tissues. WHO Press 2008; pp 109-145

2. Wouters B, Lowenberg B, Erpelinck-Verschueren C, et al: Double CEBPA mutations, but not single CEBPA mutations, define a subset of acute myeloid leukemia with a distinctive expression profile that is uniquely associated with a favorable outcome. Blood 2009;113:3088-3091

3. Pabst T, Eyholzer M, Fos J, et al: Heterogeneity within AML with CEBPA mutations; only CEBPA double mutations, but not single CEBPA mutations are associated with favourable prognosis. Br J Cancer 2009;100:1343-1346


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