What are other Names for this Test? (Equivalent Terms)
- Gene Mutation Analysis for Myoepithelial Carcinoma
- Test for Molecular Diagnosis of Myoepithelial Carcinoma
What is Molecular Testing for Myoepithelial Carcinoma? (Background Information)
- Molecular Testing for Myoepithelial Carcinoma is a genetic test that is helpful in aiding a diagnosis of myoepithelial carcinoma. The lab test results may also be subsequently useful in taking appropriate treatment decisions
- Myoepithelial carcinoma is an uncommon, malignant, soft tissue tumor of myoepithelial cells. It is similar to salivary gland myoepithelial tumors showing same histological features (morphology)
- It can be present in individuals of a wide age range, though many tumors are found in children. The risk factors for myoepithelial carcinoma are not well-understood
- Most tumors are solitary and small, though the larger ones may compress the surrounding structures and cause related signs and symptoms. Most myoepitheliomas are found on the limbs (arms and legs)
The cause of myoepithelial carcinoma is due to genetic mutations. Currently, studies indicate defects in the following genes:
- Mutation on EWSR1 gene
- Fusion of EWSR1 gene with either POU5F1 or PBX1 gene
- EWSR1-ZNF444 fused gene is known to display chromosomal translocation t(19;22)(q13;q12)
- The same translocation is also linked to abnormalities in the FUS gene
- Some tumors show abnormalities in the SMARCB1 gene
Additionally, the following abnormalities may be noted:
- Chromosomal translocation t(1;22)(q23;q12)
- Chromosomal translocation t(6;22)(p21;q12)
- Rearrangement of 16p11.2
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 myoepithelial carcinoma 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 Myoepithelial Carcinoma Test?
Molecular Testing for Myoepithelial Carcinoma is undertaken in the following situations:
- To assist (and in some cases, confirm) the initial diagnosis of myoepithelial carcinoma
- 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 Myoepithelial Carcinoma?
Following is the specimen collection process for Molecular Testing for Myoepithelial Carcinoma:
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 Molecular Testing for Myoepithelial Carcinoma:
- 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 Myoepithelial Carcinoma Result?
The significance of Molecular Testing for Myoepithelial Carcinoma is explained:
- Presence of a positive test result helps aid, and in some cases, confirm the diagnosis of myoepithelial carcinoma
- 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?
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 03/05/2017)
https://www.cdc.gov/mmwr/preview/mmwrhtml/rr5806a1.htm (accessed on 03/05/2017)
http://www.nature.com/gim/journal/v10/n5/full/gim200852a.html (accessed on 03/05/2017)
http://pediatrics.aappublications.org/content/106/6/1494 (accessed on 03/05/2017)
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3540416/ (accessed on 03/05/2017)
http://www.nature.com/modpathol/journal/v27/n1s/full/modpathol2013172a.html (accessed on 03/05/2017)
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4181467/ (accessed on 03/05/2017)
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
Seethala, R. R., Barnes, E. L., & Hunt, J. L. (2007). Epithelial-myoepithelial carcinoma: a review of the clinicopathologic spectrum and immunophenotypic characteristics in 61 tumors of the salivary glands and upper aerodigestive tract. The American journal of surgical pathology, 31(1), 44-57.
Jacquemier, J., Padovani, L., Rabayrol, L., Lakhani, S. R., Penault‐Llorca, F., Denoux, Y., ... & Martinez Penuela, J. (2005). Typical medullary breast carcinomas have a basal/myoepithelial phenotype. The Journal of pathology, 207(3), 260-268.
Antonescu, C. R., Zhang, L., Chang, N. E., Pawel, B. R., Travis, W., Katabi, N., ... & Fletcher, C. D. (2010). EWSR1‐POU5F1 fusion in soft tissue myoepithelial tumors. A molecular analysis of sixty‐six cases, including soft tissue, bone, and visceral lesions, showing common involvement of the EWSR1 gene. Genes, Chromosomes and Cancer, 49(12), 1114-1124.
Kusafuka, K., Takizawa, Y., Ueno, T., Ishiki, H., Asano, R., Kamijo, T., ... & Kameya, T. (2008). Dedifferentiated epithelial-myoepithelial carcinoma of the parotid gland: a rare case report of immunohistochemical analysis and review of the literature. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology, 106(1), 85-91.
Lakhani, S. R., Chaggar, R., Davies, S., Jones, C., Collins, N., Odel, C., ... & O'Hare, M. J. (1999). Genetic alterations in ‘normal’luminal and myoepithelial cells of the breast. The Journal of pathology, 189(4), 496-503.
Gleason, B. C., & Fletcher, C. D. (2007). Myoepithelial carcinoma of soft tissue in children: an aggressive neoplasm analyzed in a series of 29 cases. The American journal of surgical pathology, 31(12), 1813-1824.