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Molecular Testing for Juvenile Polyposis Syndrome

Last updated April 27, 2017

Approved by: Krish Tangella MD, MBA, FCAP


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

  • Gene Mutation Analysis for Juvenile Polyposis Syndrome
  • Molecular Testing for JPS
  • Test for Molecular Diagnosis of Juvenile Polyposis Syndrome

What is Molecular Testing for Juvenile Polyposis Syndrome? (Background Information)

  • Molecular Testing for Juvenile Polyposis Syndrome is a genetic test that may be helpful in the diagnosis of this disorder. The lab test results may also be subsequently useful in taking appropriate treatment decisions
  • Juvenile polyposis syndrome (JPS) is a disorder characterized by multiple hamartomatous benign growths or polyps, usually in large intestines. Hamartomas arise as a result of disorganized growth of cells
  • The term “juvenile” (in juvenile polyposis syndrome) refers to typical traits of the polyp (smooth, cystic, lobulated growths, with or without stalks), and not the age at which the syndrome manifests
  • The signs and symptoms of JPS may include diarrhea, vomiting, rectal bleeding, and abdominal pain, among others. The potential complications include benign polyps turning cancerous, bleeding from the polyps, and protein-losing enteropathy in children

Juvenile polyposis syndrome can either be inherited or develop spontaneously.

  • Currently, studies indicate that the familial type of JPS is caused by mutation(s) in the BMPR1A and SMAD4 genes, which are inherited in an autosomal dominant manner
  • Molecular gene testing may be helpful in confirming the initial diagnosis of JPS

A positive or negative test result should always be interpreted in the context of the individual’s overall signs and symptoms.

The molecular testing, in general, can be performed using a variety of methods. Some of these methods include:

  • In situ hybridization techniques, 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 juvenile polyposis syndrome 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 Juvenile Polyposis Syndrome Test?

Molecular Testing for Juvenile Polyposis Syndrome is undertaken in the following situations: 

  • To assist (and in some cases, confirm) the initial diagnosis of JPS
  • If there is a family history of JPS
  • To distinguish other conditions that have similar features (signs and symptoms)
  • 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 Juvenile Polyposis Syndrome?

The type and source and specimen sample requirements will depend on the preference of the individuals and the preference of the testing lab. Thus, it may vary from one individual to another and from one lab to another. Therefore, it is important to contact the testing lab for exact specimen requirements, before initiating the collecting and testing process.

Following is the specimen collection process for Molecular Testing for Juvenile Polyposis Syndrome:

  • Sample on which the test is performed may include:
    • Peripheral blood in individuals showing signs and symptoms suspected of JPS
    • Bone marrow biopsy specimen
    • For mitochondrial DNA testing, usually a muscle biopsy or a liver biopsy is preferred
    • In case of expectant mothers, prenatal testing through amniotic fluid and chorionic villi sampling
    • Fetal cord blood
    • Fresh tissue from biopsy
    • Fresh tissue from autopsy sample
    • Fresh tissue from fetal demise
    • Buccal brushes: Using the kit that is provided by the testing laboratory, buccal brushes can be used to collect the specimen, by scraping the inner cheek lining (buccal mucosa)
    • Oral rinse specimens
    • Body fluids such as saliva, tears, and semen
    • Dried blood spots: This specimen type is usually requested in situations where the collection and/or shipping of whole blood is not practical
    • In some cases, hair samples (with attached roots), finger nails, and buccal swabs, may be acceptable
    • Formalin-fixed paraffin-embedded solid tumor tissue (FFPE tumor tissue), often referred to as paraffin block of the tumor
    • Products of conception sample from aborted pregnancy
  • Process of obtaining the sample: As outlined by the laboratory testing facility
  • Preparation required: As outlined by the laboratory testing facility

Important Information:

Limitations of specimen while testing for juvenile polyposis syndrome

  • For blood specimens: Individuals, who have received platelet transfusions, red blood transfusion, or white blood (leukocyte) transfusion, should wait at least 4 weeks before providing a blood specimen
  • The following specimens may not be acceptable in individuals who have received heterologous bone marrow transplant (in the past):
    • Peripheral blood samples
    • Oral rinse specimens
    • Bone marrow biopsy specimens
  • Testing for juvenile polyposis syndrome should not be performed on a transplanted organ/specimen, since the genetic material belongs to the donor and not to the individual being tested
  • Formalin-fixed paraffin-embedded solid tumor tissue: In many cases, FFPE tissue blocks are usually not acceptable. Please contact the testing lab to ascertain, if it is an acceptable sample specimen
  • In some cases, a different source of specimen 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.

Turnaround time for test results

  • Depending on the location of testing, it may take from 2 to 8 weeks from the time of sample collection, to obtain the test results

Sample storage information

  • 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 tissue specimen over time

Cost of Molecular Testing for Juvenile Polyposis Syndrome:

  • 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 Juvenile Polyposis Syndrome Result?

The significance of Molecular Testing for Juvenile Polyposis Syndrome is explained:

  • Presence of a positive test result helps aid, and in some cases, confirm the diagnosis of JPS
  • The result can help exclude other tumors with similar histological features, or help eliminate other conditions presenting similar signs and symptoms
  • It can help determine the prognosis of the patient
  • Help in management of the condition following birth of the child
  • In some cases, the test results may help in taking treatment decisions
  • Individuals showing a positive test result during pregnancy may benefit from genetic counseling
  • If there is a family history of the condition, then genetic counseling may be required to help assess the risk, before planning for a child

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 02/23/2017)

https://www.cdc.gov/mmwr/preview/mmwrhtml/rr5806a1.htm (accessed on 02/23/2017)

http://www.nature.com/gim/journal/v10/n5/full/gim200852a.html (accessed on 02/23/2017)

http://pediatrics.aappublications.org/content/106/6/1494 (accessed on 02/23/2017)

https://www.ncbi.nlm.nih.gov/books/NBK1469/ (accessed on 03/23/2017)

http://my.clevelandclinic.org/childrens-hospital/health-info/diseases-conditions/hic-juvenile-polyposis-syndrome (accessed on 03/23/2017)

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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)

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

Syngal, S., Brand, R. E., Church, J. M., Giardiello, F. M., Hampel, H. L., & Burt, R. W. (2015). ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. The American journal of gastroenterology, 110(2), 223-262.

Aytac, E., Sulu, B., Heald, B., O'malley, M., LaGuardia, L., Remzi, F. H., ... & Church, J. M. (2015). Genotype‐defined cancer risk in juvenile polyposis syndrome. British Journal of Surgery, 102(1), 114-118.

Stoffel, E. M., & Boland, C. R. (2015). Genetics and genetic testing in hereditary colorectal cancer. Gastroenterology, 149(5), 1191-1203.

Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: April 27, 2017
Last updated: April 27, 2017