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Molecular Testing for Aggressive Natural Killer Cell Leukemia

Last updated Oct. 22, 2017

Molecular Testing for Aggressive Natural Killer Cell Leukemia is a genetic test that is helpful in aiding a diagnosis of aggressive NK-cell leukemia. The lab test results may also be subsequently useful in taking appropriate treatment decisions.


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

  • Gene Mutation Analysis for Aggressive Natural Killer Cell Leukemia
  • Test for Molecular Diagnosis of Aggressive Natural Killer Cell Leukemia

What is Molecular Testing for Aggressive Natural Killer Cell Leukemia? (Background Information)

  • Molecular Testing for Aggressive Natural Killer Cell Leukemia is a genetic test that is helpful in aiding a diagnosis of aggressive NK-cell leukemia. The lab test results may also be subsequently useful in taking appropriate treatment decisions
  • Aggressive natural killer cell leukemia is a very rare and highly-aggressive cancer that is mostly observed in young and middle-aged adults. The cancer involves the peripheral blood; which means that the malignant cells are present in peripheral blood
  • It is a rare and severe form of large granular lymphocyte leukemia. Large granular lymphocyte (LGL) leukemia represents a type of lymphoproliferative disorder. Lymphoproliferative disorders are disorders in which there is uncontrolled production of (excess) lymphocytes that occurs due to several reasons
  • Several organs of the body, such as the liver, spleen, and lymph nodes, may be affected. Individuals with aggressive NK-cell leukemia may have severe anemia and thrombocytopenia, which can lead to bleeding disorders

The cause of aggressive natural killer cell leukemia may be due to genetic mutations.

  • TCR gene rearrangement in aggressive NK-cell leukemia shows germline configuration
  • The above genetic abnormalities can be detected using molecular studies, which may play a significant role in identifying the tumor type, and in some cases, helping the healthcare provider take appropriate treatment decisions

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 aggressive NK-cell leukemia 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 Molecular Testing for Aggressive Natural Killer Cell Leukemia Test?

Molecular Testing for Aggressive Natural Killer Cell Leukemia is undertaken in the following situations:

  • To assist (and in some cases, confirm) the initial diagnosis of aggressive NK-cell leukemia
  • To distinguish other 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 condition

How is the Specimen Collected for Molecular Testing for Aggressive Natural Killer Cell Leukemia?

Following is the specimen collection process for Molecular Testing for Aggressive Natural Killer Cell Leukemia:

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:

    • Peripheral blood
    • Bone marrow biopsy specimen
    • 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:

  • 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

Cost of Molecular Testing for Aggressive Natural Killer Cell Leukemia:

  • 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 Molecular Testing for Aggressive Natural Killer Cell Leukemia Result?

The significance of Molecular Testing for Aggressive Natural Killer Cell Leukemia is explained:

  • Presence of a positive test result helps aid, and in some cases, confirm the diagnosis of aggressive NK-cell leukemia
  • The result can help exclude other conditions/tumors with similar histological features
  • It can help determine the prognosis of the patient
  • In some cases, the test results may help in taking treatment decisions

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 for Molecular Testing for Aggressive Natural Killer Cell Leukemia:

  • 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
  • Additional mutations are still being discovered in many of these cases. This may further contribute towards diagnosis and treatment. Please consult with your healthcare provider for any information updates

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?

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 10/16/17)

https://www.cdc.gov/mmwr/preview/mmwrhtml/rr5806a1.htm (accessed on 10/16/17)

http://www.nature.com/gim/journal/v10/n5/full/gim200852a.html (accessed on 10/16/17)

https://www.leukaemiacare.org.uk/large-granular-lymphocytic-leukaemia (accessed on 10/16/17)

http://theoncologist.alphamedpress.org/content/11/3/263.full (accessed on 10/16/17)

https://rarediseases.info.nih.gov/diseases/9812/large-granular-lymphocyte-leukemia (accessed on 10/16/17)

http://www.hopkinsmedicine.org/kimmel_cancer_center/centers/bone_marrow_failure_disorders/large_granular_leukemia.html (accessed on 10/16/17)

https://www.lls.org/leukemia/large-granular-lymphocytic-leukemia (accessed on 10/16/17)

http://www.bloodjournal.org/content/bloodjournal/early/2017/01/19/blood-2016-08-692590.full.pdf?sso-checked=true (accessed on 10/16/17)

Helpful Peer-Reviewed Medical Articles:

Iqbal, J., Weisenburger, D. D., Chowdhury, A., Tsai, M. Y., Srivastava, G., Greiner, T. C., ... & Au, W. Y. (2011). Natural killer cell lymphoma shares strikingly similar molecular features with a group of non-hepatosplenic γδ T-cell lymphoma and is highly sensitive to a novel aurora kinase A inhibitor in vitro. Leukemia, 25(2), 348-358. 

Kwong, Y. L. (2011). The diagnosis and management of extranodal NK/T-cell lymphoma, nasal-type and aggressive NK-cell leukemia. Journal of clinical and experimental hematopathology, 51(1), 21-28.

Lima, M. (2013). Aggressive mature natural killer cell neoplasms: from epidemiology todiagnosis. Orphanet journal of rare diseases, 8(1), 95.

Ishida, F., & Kwong, Y. L. (2010). Diagnosis and management of natural killer-cell malignancies. Expert review of hematology, 3(5), 593-602.

Armitage, J. O. (2012). The aggressive peripheral T‐cell lymphomas: 2012 update on diagnosis, risk stratification, and management. American journal of hematology, 87(5), 511-519.

Koskela, H. L., Eldfors, S., Ellonen, P., Van Adrichem, A. J., Kuusanmäki, H., Andersson, E. I., ... & Majumder, M. M. (2012). Somatic STAT3 mutations in large granular lymphocytic leukemia. New England Journal of Medicine, 366(20), 1905-1913.

Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: Oct. 22, 2017
Last updated: Oct. 22, 2017