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Molecular Testing for MiT Family Translocation Renal Cell Carcinoma in Children

Last updated Jan. 24, 2020

Approved by: Krish Tangella MD, MBA, FCAP

Molecular Testing for MiT Family Translocation Renal Cell Carcinoma in Children (MFTRCCC) is a genetic test that is helpful in aiding a diagnosis of MFTRCCC.


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

  • Gene Mutation Analysis for MiT Family Translocation Renal Cell Carcinoma in Children
  • Test for Molecular Diagnosis of MFTRCCC
  • Test for Molecular Diagnosis of MiT Family Translocation Renal Cell Carcinoma in Children

What is Molecular Testing for MiT Family Translocation Renal Cell Carcinoma in Children? (Background Information)

  • Molecular Testing for MiT Family Translocation Renal Cell Carcinoma in Children (MFTRCCC) is a genetic test that is helpful in aiding a diagnosis of MFTRCCC. The lab test results may also be subsequently useful in taking appropriate treatment decisions
  • By definition, MiT Family Translocation Renal Cell Carcinoma in Children has mutations involving the TFE 3 gene, TFE B gene, TFC gene, and MiTF gene. The tumors can have different microscopic features when examined under a microscope
  • The risk factors for the development of MiT Family Translocation Renal Cell Carcinoma in Children are not well-established. However, some of the general risk factors for kidney tumors include a family history of the condition (that may result in hereditary MFTRCCC), exposure to toxins, due to cytotoxic chemotherapy, high blood pressure, and even obesity

The cause of formation of MiT Family Translocation Renal Cell Carcinoma in Children may be due to genetic mutations; numerous genetic mutations have been revealed. Currently, studies indicate the following defects:

  • By definition, MFTRCCC involves fusion gene mutation involving the TFE3 gene and TFEB gene
  • Other fusion products include:
  • Between TFE3 gene (on Xpll) and ASPL gene (17q25)
  • Between TFE3 gene and PRCC gene (1q21)
  • Between TFE3 gene and NONO gene (Xq12)
  • Between PSF gene and SFPQ gene (1p34)
  • Between TFE3 gene and CLTC gene (17q23)
  • Translocation between chromosome TFEB gene and MALAT 1 gene causing t(6;11)(p21;q12)
  • Translocation between TFE3 gene and ASPL gene causing t (X:17)(P11-2; q25)

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 MiT Family Translocation Renal Cell Carcinoma in Children 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 MiT Family Translocation Renal Cell Carcinoma in Children Test?

Molecular Testing for MiT Family Translocation Renal Cell Carcinoma in Children is undertaken in the following situations: 

  • To assist (and in some cases, confirm) the initial diagnosis of MFTRCCC
  • 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 MiT Family Translocation Renal Cell Carcinoma in Children?

Following is the specimen collection process for Molecular Testing for MiT Family Translocation Renal Cell Carcinoma in Children:

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 Molecular Testing for MiT Family Translocation Renal Cell Carcinoma in Children:

  • 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 MiT Family Translocation Renal Cell Carcinoma in Children Result?

The significance of Molecular Testing for MiT Family Translocation Renal Cell Carcinoma in Children is explained:

  • Presence of a positive test result helps aid, and in some cases, confirm the diagnosis of MiT Family Translocation Renal Cell Carcinoma in Children
  • 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.

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:


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Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: Jan. 24, 2020
Last updated: Jan. 24, 2020