What are other Names for this Test? (Equivalent Terms)
- Gene Mutation Analysis for Lipoma
- Test for Molecular Diagnosis of Lipoma
What is Molecular Testing for Lipoma? (Background Information)
- Molecular Testing for Lipoma is a genetic test that is helpful in aiding a diagnosis of lipoma. The lab test results may also be subsequently useful in taking appropriate treatment decisions
- Lipomas are very common benign tumors of fat tissues (adipose tissues). They are usually observed in adults between the ages 40-60 years; although, they may occur in any individual at any age
- Lipomas can occur in almost every part of the body. In less than 5% of the individuals, they can occur as multiple masses in different parts of the body. The tumor usually occurs just below the skin and are normally painless
The cause of lipoma is due to genetic mutations. Currently, studies indicate defects in the following genes:
- HMGA2-LPP causing chromosomal translocation abnormality namely t(3;12)(q27-28;q14-q15)
- LPP-HMGA2 causing chromosomal translocation abnormality namely t(3;12)(q27-28;q14-q15)
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 lipoma 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 Lipoma Test?
Molecular Testing for Lipoma is undertaken in the following situations:
- To assist (and in some cases, confirm) the initial diagnosis of lipoma
- 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 Lipoma?
Following is the specimen collection process for Molecular Testing for Lipoma:
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
Cost of Molecular Testing for Lipoma:
- 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 Lipoma Result?
The significance of Molecular Testing for Lipoma is explained:
- Presence of a positive test result helps aid, and in some cases, confirm the diagnosis of lipoma
- 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/20679883 (accessed on 02/17/2017)
http://www.lipomadoc.org/fml.html (accessed on 02/17/2017)
http://www.nature.com/ejhg/journal/v9/n9/pdf/5200694a.pdf?origin=publication_detail (accessed on 02/17/2017)
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
Manor, E., Sion-Vardy, N., Joshua, B. Z., & Bodner, L. (2011). Oral lipoma: analysis of 58 new cases and review of the literature. Annals of diagnostic pathology, 15(4), 257-261.
Paškauskas, S., Latkauskas, T., Valeikaitė, G., Paršeliūnas, A., Svagždys, S., Saladžinskas, Z., ... & Pavalkis, D. (2010). Colonic intussusception caused by colonic lipoma: a case report. Medicina (Kaunas), 46(7), 477-481.
Coll, J. P., Ragsdale, B. D., Chow, B., & Daughters, T. C. (2011). Best cases from the AFIP: lipoma arborescens of the knees in a patient with rheumatoid arthritis. Radiographics, 31(2), 333-337.
Kaur, R., Kler, S., & Bhullar, A. (2011). Intraoral lipoma: Report of 3 cases. Dental research journal, 8(1).
Huang, D., Sumegi, J., Dal Cin, P., Reith, J. D., Yasuda, T., Nelson, M., ... & Bridge, J. A. (2010). C11orf95‐MKL2 is the resulting fusion oncogene of t (11; 16)(q13; p13) in chondroid lipoma. Genes, Chromosomes and Cancer, 49(9), 810-818.
Mentzel, T., Palmedo, G., & Kuhnen, C. (2010). Well-differentiated spindle cell liposarcoma (‘atypical spindle cell lipomatous tumor’) does not belong to the spectrum of atypical lipomatous tumor but has a close relationship to spindle cell lipoma: clinicopathologic, immunohistochemical, and molecular analysis of six cases. Modern Pathology, 23(5), 729-736.
Paulli, M., Arcaini, L., Lucioni, M., Boveri, E., Capello, D., Passamonti, F., ... & Berti, E. (2010). Subcutaneous ‘lipoma-like’B-cell lymphoma associated with HCV infection: a new presentation of primary extranodal marginal zone B-cell lymphoma of MALT. Annals of oncology, 21(6), 1189-1195.
Van Itallie, C. M., Tietgens, A. J., Aponte, A., Fredriksson, K., Fanning, A. S., Gucek, M., & Anderson, J. M. (2014). Biotin ligase tagging identifies proteins proximal to E-cadherin, including lipoma preferred partner, a regulator of epithelial cell–cell and cell–substrate adhesion. J Cell Sci, 127(4), 885-895.
Wood, J., & Henderson, R. G. (2014). Peripheral intrapulmonary lipoma: a rare lung neoplasm. The British journal of radiology.
Debnath, S. C., & Saikia, A. (2010). Lipoma of the parotid gland extending from the superficial to the deep lobe: a rarity. British Journal of Oral and Maxillofacial Surgery, 48(3), 203-204.