Please Remove Adblock
Adverts are the main source of Revenue for DoveMed. Please remove adblock to help us create the best medical content found on the Internet.

RUNX1-RUNX1T1 Mutation Analysis Test

Last updated May 29, 2017

The RUNX1-RUNX1T1 Mutation Analysis Test helps detect the RUNX1-RUNX1T1 fusion mutation. It helps diagnose cancer.

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

  • AML1-ETO Mutation Analysis Test
  • AML1-ETO t(8;21) Mutation Analysis Test

What is RUNX1-RUNX1T1 Mutation Analysis Test? (Background Information)

  • RUNX1-RUNX1T1 mutation refers to a problematic fusion between two genes - RUNX1 and RUNX1T1. It is associated with blood cell cancers, such as cancer of the white blood cells (leukemia)
  • The RUNX1 gene gives instructions for the RUNX1 protein. RUNX1 helps blood cells control the process of converting genetic material to proteins by turning on genes related to blood cell development
  • RUNX1 is thus essential in early blood cells. It acts in unison with other proteins, such as the CBFB protein, and helps form the CBF complex
  • The RUNX1-RUNX1T1 fusion mutation occurs when the RUNX1 gene combines with the RUNX1T1 gene, which results in a RUNX1 protein that is defective
  • The mutated RUNX1 protein may be unable to properly regulate blood cell growth and development, and may cause uncontrolled growth resulting in cancer
  • The RUNX1-RUNX1T1 Mutation Analysis Test helps detect the RUNX1-RUNX1T1 fusion mutation. It helps diagnose cancer. It also aids in the treatment of cancer by guiding selection of chemotherapy drugs

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 RUNX1-RUNX1T1 Mutation Analysis Test?

Following are the clinical indications for performing the RUNX1-RUNX1T1 Mutation Analysis Test: 

  • Fever
  • Bone pain
  • Lethargy and fatigue
  • Shortness of breath
  • Pale skin
  • Frequent infections
  • Easy bruising
  • Unusual bleeding, such as frequent nosebleeds and bleeding from the gums

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 RUNX1-RUNX1T1 Mutation Analysis Test?

Following is the specimen collection process for RUNX1-RUNX1T1 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


  • 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 RUNX1-RUNX1T1 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 RUNX1-RUNX1T1 Mutation Analysis Test Result?

The presence of the RUNX1-RUNX1T1 mutation indicates a positive result for the RUNX1-RUNX1T1 Mutation Analysis Test. This may point to a diagnosis of any of the following:

  • Core binding factor acute myeloid leukemia
  • Cytogenically normal acute myeloid leukemia
  • Rheumatoid arthritis
  • Acute lymphoblastic leukemia
  • Chronic myelomonocytic leukemia
  • Myelodysplastic syndromes
  • Familial platelet disorder with predisposition to acute myeloid leukemia

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:

  • The RUNX1-RUNX1T1 mutation occurs in 5-7% of new cases of acute myeloid leukemia in adults and 11-13% of cases in children
  • 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, 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:


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


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)

Acute myelogenous leukemia (AML) Symptoms - Mayo Clinic. (2015, September 12). Retrieved from http://www.mayoclinic.org/diseases-conditions/acute-myelogenous-leukemia/basics/symptoms/con-20043431

RUNX1 gene - Genetics Home Reference. (n.d.). Retrieved from https://ghr.nlm.nih.gov/gene/RUNX1#location

Retrieved from http://ltd.aruplab.com/Tests/Pdf/399

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

Gaidzik, V. I., Bullinger, L., Schlenk, R. F., Zimmermann, A. S., Röck, J., Paschka, P., ... & Späth, D. (2011). RUNX1 mutations in acute myeloid leukemia: results from a comprehensive genetic and clinical analysis from the AML study group. Journal of Clinical Oncology, 29(10), 1364-1372.

Mullighan, C. G., Zhang, J., Kasper, L. H., Lerach, S., Payne-Turner, D., Phillips, L. A., ... & Buetow, K. H. (2011). CREBBP mutations in relapsed acute lymphoblastic leukaemia. Nature, 471(7337), 235-239.

Kihara, R., Nagata, Y., Kiyoi, H., Kato, T., Yamamoto, E., Suzuki, K., ... & Miyazaki, Y. (2014). Comprehensive analysis of genetic alterations and their prognostic impacts in adult acute myeloid leukemia patients. Leukemia, 28(8), 1586-1595.

Ommen, H. B., Schnittger, S., Jovanovic, J. V., Ommen, I. B., Hasle, H., Østergaard, M., ... & Hokland, P. (2010). Strikingly different molecular relapse kinetics in NPM1c, PML-RARA, RUNX1-RUNX1T1, and CBFB-MYH11 acute myeloid leukemias. Blood, 115(2), 198-205.

Kim, H. J., Ahn, H. K., Jung, C. W., Moon, J. H., Park, C. H., Lee, K. O., ... & Kim, S. H. (2013). KIT D816 mutation associates with adverse outcomes in core binding factor acute myeloid leukemia, especially in the subgroup with RUNX1/RUNX1T1 rearrangement. Annals of hematology, 92(2), 163-171.

Schnittger, S., Dicker, F., Kern, W., Wendland, N., Sundermann, J., Alpermann, T., ... & Haferlach, T. (2011). RUNX1 mutations are frequent in de novo AML with noncomplex karyotype and confer an unfavorable prognosis. Blood, 117(8), 2348-2357.

Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: May 29, 2017
Last updated: May 29, 2017