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Molecular Testing for Aneurysmal Bone Cyst

Last updated Feb. 28, 2017

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

  • Gene Mutation Analysis for Aneurysmal Bone Cyst
  • Molecular Testing for ABC
  • Test for Molecular Diagnosis of Aneurysmal Bone Cyst

What is Molecular Testing for Aneurysmal Bone Cyst? (Background Information)

  • Molecular Testing for Aneurysmal Bone Cyst is a genetic test that is helpful in aiding a diagnosis of aneurysmal bone cyst. The lab test results may also be subsequently useful in taking appropriate treatment decisions
  • Aneurysmal bone cyst (ABC) is a tumor-like lesion of the bone, primarily found in children and adolescents. This benign tumor grows rapidly and destroys any surrounding bone tissue
  • The most commonly affected bone is the shinbone, followed by the thigh bone. Rarely, these tumors may occur in a non-bone location, such as in the wall of major artery, or in the soft tissues

The cause of aneurysmal bone cyst is due to genetic mutations. Currently, studies indicate defects in the following genes:

  • CDH11-USP6 causing chromosomal translocation abnormality namely t(16;17)(q22;p13)
  • THRAP3-USP6 causing chromosomal translocation abnormality namely t(1;17)(p34.3;p13)
  • CNBP-USP6 causing chromosomal translocation abnormality namely t(3;17)(q21;p13)
  • OMD-USP6 causing chromosomal translocation abnormality namely t(9;17)(q22;p13)
  • COL1A1-USP6 causing chromosomal translocation abnormality namely t(17;17)(q21;p13)

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 aneurysmal bone cyst 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 Aneurysmal Bone Cyst Test?

Molecular Testing for Aneurysmal Bone Cyst is undertaken in the following situations: 

  • To assist (and in some cases, confirm) the initial diagnosis of aneurysmal bone cyst
  • 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 Molecular Testing for Aneurysmal Bone Cyst?

Following is the specimen collection process for Molecular Testing for Aneurysmal Bone Cyst:

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 required:
    • 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


  • Depending on the location of testing, it may take up to 2 weeks’ turnaround time, to obtain the test results
  • Occasionally, additional samples may be required to either repeat the test or to perform follow-up testing
  • 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

What is the Significance of the Molecular Testing for Aneurysmal Bone Cyst Result?

The significance of Molecular Testing for Aneurysmal Bone Cyst is explained:

  • Presence of a positive test result helps aid, and in some cases, confirm the diagnosis of aneurysmal bone cyst
  • The result can help exclude other 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:

  • 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 tumors. This may further contribute towards tumor 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?

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 02/17/2017)

https://www.cdc.gov/mmwr/preview/mmwrhtml/rr5806a1.htm (accessed on 02/17/2017)

http://www.nature.com/gim/journal/v10/n5/full/gim200852a.html (accessed on 02/17/2017)

http://pediatrics.aappublications.org/content/106/6/1494 (accessed on 02/17/2017)

https://www.ncbi.nlm.nih.gov/pubmed/15083125 (accessed on 02/17/2017)

https://www.ncbi.nlm.nih.gov/pubmed/15026324 (accessed on 02/17/2017)

https://www.ncbi.nlm.nih.gov/gtr/conditions/C0152244/ (accessed on 02/17/2017)

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

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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

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Path, O. Aneurysmal Bone Cysts. Radiation Therapy of Benign Diseases, 14.

Ye, Y., Pringle, L. M., Lau, A. W., Riquelme, D. N., Wang, H., Jiang, T., ... & Chou, M. M. (2010). TRE17/USP6 oncogene translocated in aneurysmal bone cyst induces matrix metalloproteinase production via activation of NF-κB. Oncogene, 29(25), 3619-3629.

Amendola, L., Simonetti, L., Simoes, C. E., Bandiera, S., De Iure, F., & Boriani, S. (2013). Aneurysmal bone cyst of the mobile spine: the therapeutic role of embolization. European Spine Journal, 22(3), 533-541.

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Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: Feb. 28, 2017
Last updated: Feb. 28, 2017