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Molecular Testing for Elephantiasis Neuromatosa

Last updated March 28, 2017

Molecular Testing for Elephantiasis Neuromatosa is a genetic test that is helpful in aiding a diagnosis of elephantiasis neuromatosa.


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

  • Gene Mutation Analysis for Elephantiasis Neuromatosa
  • Test for Molecular Diagnosis of Elephantiasis Neuromatosa

What is Molecular Testing for Elephantiasis Neuromatosa? (Background Information)

  • Molecular Testing for Elephantiasis Neuromatosa is a genetic test that is helpful in aiding a diagnosis of elephantiasis neuromatosa. The lab test results may also be subsequently useful in taking appropriate treatment decisions
  • Elephantiasis neuromatosa is an advanced form of plexiform neurofibroma, in which the entire extremity (arm or leg) is involved. It results in massive hypertrophy (enlargement) of the affected skin, underlying soft tissue, and bone structure
  • Plexiform neurofibroma is an uncommon form of neurofibroma that is slow-growing and asymptomatic. Study reports indicate that plexiform neurofibroma, and consequently elephantiasis neuromatosa, is unique to those with neurofibromatosis type 1 (NF-1), which is a genetic disorder
  • Elephantiasis neuromatosa can result in severely impaired function of the affected region, severe physical disfigurement, and emotional stress. The individual is also vulnerable to bone fractures due to weakening of the affected bones

The cause of elephantiasis neuromatosa (that arises from plexiform neurofibroma) is due to genetic mutations.

  • Currently, studies indicate defects in the following gene: NF1 gene
  • Additionally, the following chromosomal aberration is noted:
    • Mutations in chromosome 17 due to loss of 17q (long arm); this is observed frequently
    • Mutations in chromosome 19 due to loss of 19p and 19q (on short arm and long arm respectively)
    • Mutations in chromosome 22 due to loss of 22q (long arm)
  • In plexiform neurofibroma, frequently, deletion in 9p is noted. It is also sometimes associated with abnormalities in the following genes:
    • CDKN2A
    • CDKN2B
    • MTAP

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 elephantiasis neuromatosa 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 Elephantiasis Neuromatosa Test?

Molecular Testing for Elephantiasis Neuromatosa is undertaken in the following situations: 

  • To assist (and in some cases, confirm) the initial diagnosis of elephantiasis neuromatosa
  • 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 Elephantiasis Neuromatosa?

Following is the specimen collection process for Molecular Testing for Elephantiasis Neuromatosa:

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:

  • 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 Elephantiasis Neuromatosa:

  • 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 Elephantiasis Neuromatosa Result?

The significance of Molecular Testing for Elephantiasis Neuromatosa is explained:

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

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 03/07/2017)

https://www.cdc.gov/mmwr/preview/mmwrhtml/rr5806a1.htm (accessed on 03/07/2017)

http://www.nature.com/gim/journal/v10/n5/full/gim200852a.html (accessed on 03/07/2017)

http://pediatrics.aappublications.org/content/106/6/1494 (accessed on 03/07/2017)

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2964801/ (accessed on 03/15/2017)

http://www.nejm.org/doi/full/10.1056/NEJMicm1206146#t=article (accessed on 03/15/2017)

http://www.em-consulte.com/en/article/126866 (accessed on 03/15/2017)

Helpful Peer-Reviewed Medical Articles:

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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)

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

Ponti, G., Martorana, D., Pellacani, G., Ruini, C., Loschi, P., Baccarani, A., ... & Maiorana, A. (2014). NF1 truncating mutations associated to aggressive clinical phenotype with elephantiasis neuromatosa and solid malignancies. Anticancer research, 34(6), 3021-3030.

Shofty, B., Constantini, S., & Ben-Shachar, S. (2015, December). Advances in molecular diagnosis of neurofibromatosis type 1. In Seminars in pediatric neurology (Vol. 22, No. 4, pp. 234-239). WB Saunders.

Ponti, G., Pellacani, G., Martorana, D., Mandel, V. D., Loschi, P., Pollio, A., ... & Tomasi, A. (2016). Giant elephantiasis neuromatosa in the setting of neurofibromatosis type 1: A case report. Oncology letters, 11(6), 3709-3714.

SULTANA, N., AL-AZAD, S. A. L. A. H. U. D. D. I. N., MOWLA, A., RAHMAN, S., ISLAM, N., & NAZLEE, F. Neurofibromatosis & Hypothyroidism a new syndrome? or a co-incidence/Elephantiasis Neurofibromatosis. BANGLADESH JOURNAL OF RADIOLOGY AND IMAGING, 15.

Blitz, N. M., Hutchinson, B., & Grabowski, M. V. (2002). Pedal plexiform neurofibroma: review of the literature and case report. The Journal of foot and ankle surgery, 41(2), 117-124.

Stemmer-Rachamimov, A., & Nielsen, G. P. (2012). Pathologic and Molecular Diagnostic Features of Peripheral Nerve Sheath Tumors in NF1. In Neurofibromatosis Type 1 (pp. 429-443). Springer Berlin Heidelberg.

Dogra, B. B., Kandari, A., Ahmed, S., & Virmani, R. (2016). Giant plexiform neurofibroma of digital nerves: A case report and review of the literature. Medical Journal of Dr. DY Patil University, 9(1), 143.

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