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Molecular Testing for Pseudomyogenic Hemangioendothelioma

Last updated March 3, 2017

Molecular Testing for Pseudomyogenic Hemangioendothelioma is a genetic test that is helpful in aiding a diagnosis of pseudomyogenic hemangioendothelioma. 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 Pseudomyogenic Hemangioendothelioma
  • Molecular Testing for Pseudomyogenic Haemangioendothelioma
  • Test for Molecular Diagnosis of Pseudomyogenic Hemangioendothelioma

What is Molecular Testing for Pseudomyogenic Hemangioendothelioma? (Background Information)

  • Molecular Testing for Pseudomyogenic Hemangioendothelioma is a genetic test that is helpful in aiding a diagnosis of pseudomyogenic hemangioendothelioma. The lab test results may also be subsequently useful in taking appropriate treatment decisions
  • Pseudomyogenic hemangioendothelioma (PMH) is a very uncommon tumor of the soft tissues that are potentially malignant; they are known to rarely metastasize
  • Most of these tumors are observed in young adult males, though individuals of a wide age category may be affected. PMH may be solitary or present as multiple nodules at various locations in the body
  • Pseudomyogenic hemangioendothelioma may occur on the skin surface, in the subcutaneous tissue, or may be present deep in the body tissues. The most common tumor sites are the lower limbs and upper limbs. These tumors may or may not present pain

The cause of pseudomyogenic hemangioendothelioma is due to genetic mutations; however, the exact genetic mechanism causing the tumor is not yet identified. Currently, studies indicate the following defect:

  • Chromosomal translocation abnormality namely t(7;19)(q22;q13)

The above genetic abnormality 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 pseudomyogenic hemangioendothelioma 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 Pseudomyogenic Hemangioendothelioma Test?

Molecular Testing for Pseudomyogenic Hemangioendothelioma is undertaken in the following situations: 

  • To assist (and in some cases, confirm) the initial diagnosis of pseudomyogenic hemangioendothelioma
  • 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 Pseudomyogenic Hemangioendothelioma?

Following is the specimen collection process for Molecular Testing for Pseudomyogenic Hemangioendothelioma:

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

Note:

  • 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

Cost of Molecular Testing for Pseudomyogenic Hemangioendothelioma:

  • 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 Pseudomyogenic Hemangioendothelioma Result?

The significance of Molecular Testing for Pseudomyogenic Hemangioendothelioma is explained:

  • Presence of a positive test result helps aid, and in some cases, confirm the diagnosis of pseudomyogenic hemangioendothelioma
  • 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:

http://www.dovemed.com/diseases-conditions/pseudomyogenic-hemangioendothelioma/

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 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/pmc/articles/PMC4100035/ (accessed on 02/17/2017)

http://www.nature.com/modpathol/journal/v27/n1s/full/modpathol2013176a.html (accessed on 02/17/2017)

http://jamanetwork.com/journals/jamadermatology/fullarticle/1679361 (accessed on 02/17/2017)

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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)

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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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Hornick, J. L., & Fletcher, C. D. (2011). Pseudomyogenic hemangioendothelioma: a distinctive, often multicentric tumor with indolent behavior. The American journal of surgical pathology, 35(2), 190-201.

Trombetta, D., Magnusson, L., von Steyern, F. V., Hornick, J. L., Fletcher, C. D., & Mertens, F. (2011). Translocation t (7; 19)(q22; q13)—a recurrent chromosome aberration in pseudomyogenic hemangioendothelioma?. Cancer genetics, 204(4), 211-215.

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McGinity, M., Bartanusz, V., Dengler, B., Birnbaum, L., & Henry, J. (2013). Pseudomyogenic hemangioendothelioma (epithelioid sarcoma-like hemangioendothelioma, fibroma-like variant of epithelioid sarcoma) of the thoracic spine. European Spine Journal, 22(3), 506-511.

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Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: March 3, 2017
Last updated: March 3, 2017