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CEBPA Mutation Analysis Test

Last updated Feb. 1, 2017

Approved by: Krish Tangella MD, MBA, FCAP

The CEBPA Mutation Analysis Test is a genetic test that detects abnormalities in the CEBPA gene. It aids in the diagnosis of leukemia. It also aids in the treatment of leukemia by guiding selection of therapeutic drugs, including disqualifying certain drugs from being used.


What are other Names for this Test? (Equivalent Terms)

  • C/EBP-alpha Mutation Analysis Test
  • CCAAT/Enhancer-Binding Protein Alpha Gene Mutation Analysis Test
  • CEBPA_HUMAN Mutation Analysis Test

What is CEBPA Mutation Analysis Test? (Background Information)

  • CEBPA mutation refers to an alteration in the CEBPA gene, which is associated with cancer of the white blood cells (leukemia)
  • The CEBPA gene gives instructions for the CEBPA protein, which has 2 known functions:
    • Transcription factor: CEBPA binds regions of DNA and helps turn on and off their conversion into proteins. This is an important regulatory mechanism for the growth and divisions of cells
    • Tumor suppressor: CEBPA is involved in regulating growth and division, preventing cells from turning cancerous
  • Alterations in the CEBPA gene may result in a faulty CEBPA protein and uncontrolled growth and division of white blood cells. Thus, CEBPA mutation is linked with leukemia
  • The CEBPA Mutation Analysis Test is a genetic test that detects abnormalities in the CEBPA gene. It aids in the diagnosis of leukemia. It also aids in the treatment of leukemia by guiding selection of therapeutic drugs, including disqualifying certain drugs from being used

The molecular testing, in general, can be performed using a variety of methods. Some of these methods include:

  • In situ hybridization technique, such as fluorescence in situ hybridization (FISH)
  • Immunohistochemistry (IHC)
  • Next-generation sequencing (NGS)
  • Polymerase chain reaction (PCR)
  • Comparative genomic hybridization (CGH)
  • Karyotyping including spectral karyotyping
  • mRNA analysis
  • Tissue microarrays (TMAs)
  • Southern blot test
  • Northern blot test
  • Western blot test
  • Eastern blot test

The methodology used for the test may vary from one laboratory to another. 

Note: Molecular testing has limitations due to the molecular method and genetic mutational abnormalities being tested. This can affect the results on a case-by-case basis. Consultation with your healthcare provider will help in determining the right test and right molecular method, based on individual circumstances.

What are the Clinical Indications for performing the CEBPA Mutation Analysis Test?

Following are the clinical indications for performing the CEBPA Mutation Analysis Test: 

  • Fatigue, shortness of breath
  • Fever
  • Loss of appetite
  • Bleeding, bruising
  • Pale appearance
  • Increased susceptibility to infection
  • Red spots on skin

In general, the molecular genetic testing is undertaken in the following situations: 

  • To assist (and in some cases, confirm) the initial diagnosis
  • To distinguish other tumors/conditions that have similar histological features, when examined by a pathologist under the microscope
  • To help in determining treatment options
  • To confirm recurrence of the tumor: Tumor recurrence can either be at the original tumor site, or at a distant location (away from the initial site)

How is the Specimen Collected for CEBPA Mutation Analysis Test?

Following is the specimen collection process for CEBPA Mutation Analysis Test:

The specimen sample requirements may vary from lab to lab. Hence, it is important to contact the testing lab for exact specimen requirements, before initiating the testing process.

  • Sample on which the test is performed may include:
    • Fresh tumor tissue during biopsy
    • Formalin-fixed paraffin-embedded solid tumor tissue (FFPE tumor tissue), often referred to as paraffin block of the tumor
    • Unstained tissue slides
  • Process of obtaining the sample: As outlined by the laboratory testing facility
  • Preparation required: As outlined by the laboratory testing facility

Note:

  • In some cases, a different source of specimen (such as peripheral blood, bone marrow biopsy specimen, or other body fluids) may be acceptable to the laboratory performing the test
  • Occasionally, additional samples may be required to either repeat the test or to perform follow-up testing
  • Depending on the location of testing, it may take up to 2 weeks’ turnaround time, to obtain the test results
  • Many hospitals preserve the paraffin blocks for at least 7 years. In general, older paraffin blocks (over 5 years) may affect the detection of specific mutations, due to degradation of the tumor specimen over time

Cost of CEBPA Mutation Analysis Test:

  • The cost of the test procedure depends on a variety of factors, such as the type of your health insurance, annual deductibles, co-pay requirements, out-of-network and in-network of your healthcare providers and healthcare facilities
  • In many cases, an estimate may be provided before the test is conducted. The final amount may depend upon the findings during the test procedure and post-operative care that is necessary (if any)

What is the Significance of the CEBPA Mutation Analysis Test Result?

A mutation in the CEBPA gene indicates a positive result for the CEBPA Mutation Analysis Test. This may point to a diagnosis of:

  • Cytogenetically normal acute myeloid leukemia (CN-AML)
  • Familial acute myeloid leukemia with mutated CEBPA gene

The laboratory test results are NOT to be interpreted as results of a "stand-alone" test. The test results have to be interpreted after correlating with suitable clinical findings and additional supplemental tests/information. Your healthcare providers will explain the meaning of your tests results, based on the overall clinical scenario.

Additional and Relevant Useful Information:

  • CEBPA mutation most notably occurs in a location of the chromosome called 19q13.11 - i.e., the long arm (q) of chromosome 19 in position 13.11
  • Many laboratories may not have the capability to perform this test. Only highly-specialized labs with advanced facilities and testing procedures may perform this test

Certain medications that you may be currently taking may influence the outcome of the test. Hence, it is important to inform your healthcare provider of the complete list of medications (including any herbal supplements) you are currently taking. This will help the healthcare provider interpret your test results more accurately and avoid unnecessary chances of a misdiagnosis.

What are some Useful Resources for Additional Information?

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/leukemia-and-lymphoma/

Please visit our Laboratory Procedures Center for more physician-approved health information:

http://www.dovemed.com/common-procedures/procedures-laboratory/

References and Information Sources used for the Article:

https://ghr.nlm.nih.gov/primer/testing/genetictesting (accessed on 05/10/2017)

https://www.cdc.gov/mmwr/preview/mmwrhtml/rr5806a1.htm (accessed on 05/10/2017)

http://www.nature.com/gim/journal/v10/n5/full/gim200852a.html (accessed on 05/10/2017)

http://pediatrics.aappublications.org/content/106/6/1494 (accessed on 05/10/2017)

American Cancer Society. (2014, December 9). Signs and symptoms of acute myeloid leukemia. Retrieved from http://www.cancer.org/cancer/leukemia-acutemyeloidaml/detailedguide/leukemia--acute-myeloid--myelogenous--signs-symptoms

CEBPA gene - Genetics Home Reference. (n.d.). Retrieved from https://ghr.nlm.nih.gov/gene/CEBPA#location

Helpful Peer-Reviewed Medical Articles:

Carrano, A. V., et al. Measurement and purification of human chromosomes by flow cytometry and sorting. Proceedings of the National Academy of Sciences 76, 1382–1384 (1979)

Drets, M. E., & Shaw, M. W. Specific banding patterns of human chromosomes. Proceedings of the National Academy of Sciences 68, 2073–2077 (1971)

Druker, B. J. Perspectives on the development of a molecularly targeted agent. Cancer Cell 1, 31–36 (2002)

Parra, I., & Windle, B. High resolution visual mapping of stretched DNA by fluorescent hybridization. Nature Genetics 5, 17–21 (1993) doi:10.1038/ng0993-17

Pinkel, D., et al. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nature Genetics 20, 207–211 (1998) doi:10.1038/2524

Speicher, M. R., et al. Karyotyping human chromosomes by combinatorial multi-fluor FISH. Nature Genetics 12, 368–375 (1996) doi:10.1038/ng0496-368

Behdad, A., Weigelin, H. C., Elenitoba-Johnson, K. S., & Betz, B. L. (2015). A clinical grade sequencing-based assay for CEBPA mutation testing: report of a large series of myeloid neoplasms. The Journal of Molecular Diagnostics, 17(1), 76-84.

Ghosh, K., Hodjat, P., Priyanka, P., Thakral, B., Patel, K. P., Routbort, M., ... & Muzzafar, T. (2015). Mutation Analysis in 200 Cases of Newly Diagnosed Myelodysplastic Syndrome By Next Generation Sequencing: Association with Established Prognostic Variables and IPSS-R. Blood, 126(23), 1703-1703.

Port, M., Böttcher, M., Thol, F., Ganser, A., Schlenk, R., Wasem, J., ... & Pouryamout, L. (2014). Prognostic significance of FLT3 internal tandem duplication, nucleophosmin 1, and CEBPA gene mutations for acute myeloid leukemia patients with normal karyotype and younger than 60 years: a systematic review and meta-analysis. Annals of hematology, 93(8), 1279-1286.

Lavallée, V. P., Krosl, J., Lemieux, S., Boucher, G., Gendron, P., Pabst, C., ... & Hébert, J. (2016). Chemo-genomic interrogation of CEBPA mutated AML reveals recurrent CSF3R mutations and subgroup sensitivity to JAK inhibitors. Blood, 127(24), 3054-3061.

Xie, M., Lu, C., Wang, J., McLellan, M. D., Johnson, K. J., Wendl, M. C., ... & Ozenberger, B. A. (2014). Age-related mutations associated with clonal hematopoietic expansion and malignancies. Nature medicine, 20(12), 1472-1478.

Matsuo, H., Kajihara, M., Tomizawa, D., Watanabe, T., Saito, A. M., Fujimoto, J., ... & Nakayama, H. (2014). Prognostic implications of CEBPA mutations in pediatric acute myeloid leukemia: a report from the Japanese Pediatric Leukemia/Lymphoma Study Group. Blood cancer journal, 4(7), e226.

Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: Feb. 1, 2017
Last updated: Feb. 1, 2017