What are other Names for this Test? (Equivalent Terms)
- Gene Mutation Analysis for Fetal Rhabdomyoma
- Test for Molecular Diagnosis of Fetal Rhabdomyoma
What is Molecular Testing for Fetal Rhabdomyoma? (Background Information)
- Molecular Testing for Fetal Rhabdomyoma is a genetic test that is helpful in aiding a diagnosis of fetal rhabdomyoma. The lab test results may also be subsequently useful in taking appropriate treatment decisions
- Fetal rhabdomyoma is an infrequent benign tumor of the connective tissues, showing immature skeletal muscle differentiation (meaning that it resembles skeletal muscle tissue). Infants and very young children, usually boys, are prone to this tumor type
- The lesions appear generally as a single small lump in the head and/or neck. The symptoms include the presence of mucosal masses (soft tissue) and obstruction of the airways
The cause of fetal rhabdomyoma is due to genetic mutations. Currently, studies indicate the following defects:
- Mutations in PTCH1 gene, if fetal rhabdomyoma occurs as part of a syndrome
- When fetal rhabdomyoma occurs ‘not as part of a syndrome’ (or non-syndromic tumor), mutations in gene associated with hedgehog pathway activation are noted
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 fetal rhabdomyoma 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 Fetal Rhabdomyoma Test?
Molecular Testing for Fetal Rhabdomyoma is undertaken in the following situations:
- To assist (and in some cases, confirm) the initial diagnosis of fetal rhabdomyoma
- 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 Fetal Rhabdomyoma?
Following is the specimen collection process for Molecular Testing for Fetal Rhabdomyoma:
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 Embryonal Rhabdomyosarcoma:
- 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 Fetal Rhabdomyoma Result?
The significance of Molecular Testing for Fetal Rhabdomyoma is explained:
- Presence of a positive test result helps aid, and in some cases, confirm the diagnosis of fetal rhabdomyoma
- 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/27356475 (accessed on 02/17/2017)
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931277/ (accessed on 02/17/2017)
http://www.chw.org/medical-care/fetal-concerns-center/conditions/infant-complications/rhabdomyomas-and-tuberous-sclerosis/ (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
Hettmer, S., Teot, L. A., van Hummelen, P., MacConaill, L., Bronson, R. T., Dall'Osso, C., ... & Rodriguez‐Galindo, C. (2013). Mutations in Hedgehog pathway genes in fetal rhabdomyomas. The Journal of pathology, 231(1), 44-52.
Yang, S., Zhao, C., Zhang, Y., & Liao, S. (2011). Mediastinal fetal rhabdomyoma in nevoid basal cell carcinoma syndrome: a case report and review of the literature. Virchows Archiv, 459(2), 235-238.
Atalay, S., Aypar, E., Uçar, T., Altug, N., Deda, G., Teber, S., & Tutar, E. (2010). Fetal and neonatal cardiac rhabdomyomas: clinical presentation, outcome and association with tuberous sclerosis complex. The Turkish journal of pediatrics, 52(5), 481.
Elawabdeh, N., Sobol, S., Blount, A. C., & Shehata, B. M. (2013). Unusual presentation of extracardiac fetal rhabdomyoma of the larynx in a pediatric patient with tuberous sclerosis. Fetal and pediatric pathology, 32(1), 43-47.
Degueldre, S. C., Chockalingam, P., Mivelaz, Y., Di Bernardo, S., Pfammatter, J. P., Barrea, C., ... & Meijboom, E. J. (2010). Considerations for prenatal counselling of patients with cardiac rhabdomyomas based on their cardiac and neurologic outcomes. Cardiology in the Young, 20(01), 18-24.
Zheng, L., Tang, H., Chen, X., Yang, H., & Yang, M. (2013). Paratesticular fetal-type rhabdomyoma in a 12-year-old boy: a case report and literature review. Urology, 82(5), 1150-1152.
Schlaegel, F., Takacs, Z., Solomayer, E. F., Abdul-Kaliq, H., & Meyberg-Solomayer, G. (2013). Prenatal diagnosis of giant cardiac rhabdomyoma with fetal hydrops in tuberous sclerosis. Journal of prenatal medicine, 7(3), 39-41.
Parara, E., Christopoulos, P., Tosios, K., Paravalou, I., Vourlakou, C., & Alexandridis, K. (2010). A swelling of the floor of the mouth. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology, 109(1), 12-16.
Pruksanusak, N., Suntharasaj, T., Suwanrath, C., Phukaoloun, M., & Kanjanapradit, K. (2012). Fetal Cardiac Rhabdomyoma with Hydrops Fetalis. Journal of Ultrasound in Medicine, 31(11), 1821-1824.
Kocabaş, A., Ekici, F., Çetin, İ. İ., Emir, S., Demir, H. A., Arı, M. E., ... & Güven, A. (2013). Cardiac rhabdomyomas associated with tuberous sclerosis complex in 11 children: presentation to outcome. Pediatric hematology and oncology, 30(2), 71-79.