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BCL1 Mutation Analysis Test

Last updated Dec. 16, 2016

The BCL1 Mutation Analysis Test detects abnormalities in the BCL1 gene. It is used to diagnose and guide treatment for mantle cell lymphoma by aiding in selection of therapeutic drugs and disqualifying certain drugs from being used.


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

  • BCL1, t(11;14)(q13;q32) Mutation Analysis
  • BCL1, t(11;14)(q13;q32) Mutation Test
  • BLC1 Gene Mutation Analysis Test

What is BLC1 Mutation Analysis Test? (Background Information)

  • BCL1 mutation refers to an alteration in the BCL1 gene, which gives instructions for the cyclin D1 protein. A BCL1 mutation is associated with a type of blood cell cancer called mantle cell lymphoma (MCL). MCL is a type of non-follicular small B-cell lymphoma
  • B-cells are a type of white blood cell, called a lymphocyte. B-cells are responsible for making antibodies and defending the body against disease
  • Cyclin D1 is a protein that plays a role in cell division and reproduction of B-cells. An abnormal BLC1 gene may give rise to a defective Cyclin D1 protein, which may derail the maturation pathways of B-cells and cause them to grow and divide uncontrollably
  • The most common mutation in BCL1 is a translocation called t(11;14)(q13;q32). This means that the BCL1 gene has fused together between chromosomes 11 (location 13 of the short arm) and 14 (location 32 of the short arm)
  • The BCL1 Mutation Analysis Test detects abnormalities in the BCL1 gene. It is used to diagnose and guide treatment for mantle cell lymphoma by aiding in selection of therapeutic drugs and 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 BLC1 Mutation Analysis Test?

Following are the clinical indications for performing the BLC1 Gene Mutation Analysis Test: 

  • Multiple swollen lymph nodes without pain
  • Fatigue
  • Fever, night sweats
  • Unexplained weight loss

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 the BLC1 Mutation Analysis Test?

Following is the specimen collection process for BCL1 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 BLC1 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 BLC1 Mutation Analysis Test Result?

The significance of the BCL1 Mutation Analysis Test is explained:

  • A positive value for the test may point to a diagnosis of mantle cell lymphoma (MCL) in two-thirds of the cases
  • The value for the test is reported as a ratio of mutated BCL1 gene products to a standard value

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:

  • 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/mantle-cell-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)

Quest Diagnostics. (2012, December). Mantle Cell lymphoma, BCL-1/JH t(11;14), real-time PCR.

Wikigenes. (n.d.). Genes, bcl-1.

Helpful Peer-Reviewed Medical Articles:

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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

Polski, J. M., Kimzey, S., Percival, R. W., & Grosso, L. E. (1998). Rapid and effective processing of blood specimens for diagnostic PCR using filter paper and Chelex-100. Molecular Pathology, 51(4), 215.

Orchard, J., Garand, R., Davis, Z., Babbage, G., Sahota, S., Matutes, E., ... & Oscier, D. (2003). A subset of t (11; 14) lymphoma with mantle cell features displays mutated IgVH genes and includes patients with good prognosis, nonnodal disease. Blood, 101(12), 4975-4981.

Ott, G., Kalla, J., Ott, M. M., Schryen, B., Katzenberger, T., Müller, J. G., & Müller-Hermelink, H. K. (1997). Blastoid variants of mantle cell lymphoma: frequent bcl-1 rearrangements at the major translocation cluster region and tetraploid chromosome clones. Blood, 89(4), 1421-1429.

Greiner, T. C., Moynihan, M. J., Chan, W. C., Lytle, D. M., Pedersen, A., Anderson, J. R., & Weisenburger, D. D. (1996). p53 mutations in mantle cell lymphoma are associated with variant cytology and predict a poor prognosis. Blood, 87(10), 4302-4310.

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Evans, J. P., Skrzynia, C., & Burke, W. (2001). The complexities of predictive genetic testing. British Medical Journal, 322(7293), 1052.

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Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: Dec. 16, 2016
Last updated: Dec. 16, 2016