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PTEN Mutation Analysis Test

Last updated March 18, 2018

Approved by: Maulik P. Purohit MD MPH

The PTEN Mutation Analysis Test detects abnormalities in the PTEN gene. It is used to diagnose cancer. It also aids in the treatment of cancer by guiding chemotherapy drug selection.


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

  • Mutated in Multiple Advanced Cancers 1 Mutation Analysis Test
  • Protein-Tyrosine Phosphatase PTEN Mutation Analysis Test
  • PTEN-MMAC1 Protein Mutation Analysis Test

What is PTEN Mutation Analysis Test? (Background Information)

  • PTEN mutation refers to an alteration in the PTEN gene. It is associated with a wide range of cancers, including lung, prostate, breast, and other cancers
  • The PTEN gene gives instructions for the PTEN protein. The PTEN protein is found in nearly all cells of the body. It is an enzyme necessary to the proper growth and division of the cell. PTEN helps restrain a cell’s growth and limit the risk of the cell turning cancerous
  • In addition to PTEN’s tumor suppressing role, it also helps cells move throughout the body, form new blood vessels, stick to tissues, and even self-destruct. These functions contribute to the formation of cancer, if left unchecked
  • Alterations to the PTEN gene may result in a PTEN protein that is unable to protect the body from cancer
  • The PTEN Mutation Analysis Test detects abnormalities in the PTEN gene. It is used to diagnose cancer. It also aids in the treatment of cancer by guiding chemotherapy drug selection

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 the test 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 PTEN Mutation Analysis Test?

Following are the clinical indications for performing the PTEN Mutation Analysis Test:

  • Large sized head
  • Dark freckles on the penis
  • Erectile dysfunction
  • Difficulty urinating
  • Excessive night urination
  • Fatigue
  • Unexplained weight loss
  • Frequent infections
  • Coughing, wheezing
  • Abdominal pain

In general, the molecular genetic testing is undertaken in the following situations:

  • To assist (and in some cases, confirm) the initial diagnosis
  • 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 PTEN Mutation Analysis Test?

Following is the specimen collection process for PTEN Mutation Analysis Test:

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

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 PTEN Mutation Analysis Test:

  • 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 PTEN Mutation Analysis Test Result?

The presence of an alteration in the PTEN gene indicates a positive result for the PTEN Mutation Analysis Test. This may point to a diagnosis of any of the following:

  • Lung cancer
  • Breast cancer
  • Prostate cancer
  • Cowden syndrome
  • Squamous cell carcinoma

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 in the context of the overall clinical scenario.

Additional and Relevant Useful Information:

  • The PTEN gene is found in location 10q23.31 i.e., the long (q) arm of chromosome 10 in position 23.31
  • 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

Certain medications that you may be currently taking may influence the outcome of the test. Hence, it is important to inform your healthcare provider, 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.

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/prostate-cancer/

http://www.dovemed.com/diseases-conditions/lung-cancer/

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:


Helpful Peer-Reviewed Medical Articles:


Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: May 29, 2017
Last updated: March 18, 2018