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26295 TERT Promoter Analysis, Tumor (TERT)

TERT Promoter Analysis, Tumor (TERT)
Test Code: TERTSO
Synonyms/Keywords

​TERT promoter
Next Gen Sequencing Test
NGS
Central Nervous System (CNS) Tumor
Glioblastoma
Glioma
Astrocytoma
Oligodendroglioma
Diffuse glioma
Hepatocellular carcinoma
Hepatocellular adenoma
TERT

Useful For

Assisting in central nervous system tumor classification

This test is not useful for hematological malignancies.

Specimen Requirements
Fasting RequiredSpecimen TypePreferred Container/TubeAcceptable Container/TubeSpecimen VolumeSpecimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
​Tissue Block​FFPE tissue block with acceptable amount of tumor tissue

​Slides:  1 H & E, 10 unstained

Collection Processing Instructions

​Necessary Information:

Pathology report (final or preliminary) at minimum containing the following information must accompany specimen in order for testing to be performed:

1. Patient name

2. Block number-must be on all blocks, slides and paperwork (can be handwritten on the paperwork)

3. Tissue collection date

4. Source of the tissue

Specimen Required:

This assay requires at least 20% tumor nuclei.

-Preferred amount of tumor area with sufficient percent tumor nuclei: tissue144 mm(2)

-Minimum amount of tumor area: tissue 36 mm(2).

-These amounts are cumulative over up to 10 unstained slides and must have adequate percent tumor nuclei.

-Tissue fixation: 10% neutral buffered formalin, not decalcified

-For specimen preparation guidance, see Special Instructions on Mayo website. In this document, the sizes are given as 4mm x 4mm x 10 slides as preferred: approximate/equivalent to 144 mm(2) and the minimum as 3mm x 1mm x 10 slides: approximate/equivalent to 36mm(2).

Specimen Stability Information
Specimen TypeTemperature
​Varies ​ ​​Ambient (preferred)
​Frozen
​Refrigerated
Rejection Criteria
Specimens that have been decalcified (all methods) Specimens that have not been formalin-fixed, paraffin-embedded
Interference

​This test cannot differentiate between somatic and germline alterations. Additional testing may be necessary to clarify the significance of results if there is a potential hereditary risk.

DNA variants of uncertain significance may be identified.

A negative (wild-type) result does not rule out the presence of a mutation that may be present but below the limits of detection of this assay.

Point mutations and small insertion/deletion mutations will be detected with in the promoter region of the TERT gene only.

This test does not detect structural variants, genomic copy number variants, or large single or multiexon deletions or duplications in the TERT gene.

Rare polymorphisms may be present that could lead to false-negative or false-positive results. Test results should be interpreted in the context of clinical findings, tumor sampling, and other laboratory data. If results obtained do not match other clinical or laboratory findings, contact the laboratory for updated interpretation. Misinterpretation of results may occur if the information provided is inaccurate or incomplete.

Reliable results are dependent on adequate specimen collection and processing. This test has been validated on cytology slides and formalin-fixed, paraffin-embedded tissues; other types of fixatives are discouraged. Improper treatment of tissues, such as decalcification, may cause PCR failure. 

Performing Laboratory Information
Performing LocationDay(s) Test PerformedAnalytical TimeMethodology/Instrumentation
​Mayo Clinic Laboratories​Monday through Friday​12-20 days​Polymerase Chain Reaction (PCR)-Based Next-Generation Sequencing
Reference Lab
Test Information

TERT gene encodes the catalytic subunit of telomerase, an enzyme complex that regulates telomere length. TERT promoter mutations in 2 hotspots (C228T and C250T) have been shown to increase telomerase activity and contribute to tumorigenesis by allowing cancer cells to overcome cellular senescence. Among central nervous system tumors, TERT promoter mutations have primarily been identified in adults, with highest frequencies in oligodendroglioma, primary glioblastoma, solitary fibrous tumor, and medulloblastoma. Although less frequent, TERT promoter mutations have also been observed in lower-grade infiltrating (diffuse and anaplastic) astrocytomas and ependymoma, and are rare or absent in other central nervous system tumor types. The presence of TERT promoter mutations have been associated with a less favorable prognosis in lower-grade (grade II/III) diffuse gliomas that lack IDH1/2 mutations and have intact 1p/19q ("IDH-wildtype astrocytomas"), and with a more favorable prognosis in prognosis in grade II/III IDH1/2-mutant and 1p/19q-codeleted diffuse gliomas ("IDH-mutant and 1p/19q codeleted oligodendrogliomas"). Assessment of TERT promoter mutation status in central nervous system tumors may assist in tumor classification and provide prognostically relevant information for subgroups of patients with lower-grade diffuse gliomas.

TERT gene mutations are also observed in a variety of non-central nervous system (CNS) tumor types. In hepatocellular neoplasms TERT promoter mutations occur frequently in hepatocellular carcinomas and are believed to be an early step in hepatocarcinogenesis. However, TERT promoter mutations are not specific to hepatocellular carcinoma and have been reported as a key alteration in the rare progression of hepatocellular adenomas to hepatocellular carcinomas. As such, identification of a TERT promoter mutation suggests a hepatocellular neoplasm with an increased risk for aggressive behavior.

Reference Range Information
Performing LocationReference Range
​Mayo Clinic Laboratories​An interpretive report will be provided.
Interpretation

​An interpretive report will be provided. 

Outreach CPTs
CPTModifier
(if needed)
QuantityDescriptionComments
​81345​1
​88381​1
Synonyms/Keywords

​TERT promoter
Next Gen Sequencing Test
NGS
Central Nervous System (CNS) Tumor
Glioblastoma
Glioma
Astrocytoma
Oligodendroglioma
Diffuse glioma
Hepatocellular carcinoma
Hepatocellular adenoma
TERT

Ordering Applications
Ordering ApplicationDescription
If the ordering application you are looking for is not listed, contact your local laboratory for assistance.
Specimen Requirements
Fasting RequiredSpecimen TypePreferred Container/TubeAcceptable Container/TubeSpecimen VolumeSpecimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
​Tissue Block​FFPE tissue block with acceptable amount of tumor tissue

​Slides:  1 H & E, 10 unstained

Collection Processing

​Necessary Information:

Pathology report (final or preliminary) at minimum containing the following information must accompany specimen in order for testing to be performed:

1. Patient name

2. Block number-must be on all blocks, slides and paperwork (can be handwritten on the paperwork)

3. Tissue collection date

4. Source of the tissue

Specimen Required:

This assay requires at least 20% tumor nuclei.

-Preferred amount of tumor area with sufficient percent tumor nuclei: tissue144 mm(2)

-Minimum amount of tumor area: tissue 36 mm(2).

-These amounts are cumulative over up to 10 unstained slides and must have adequate percent tumor nuclei.

-Tissue fixation: 10% neutral buffered formalin, not decalcified

-For specimen preparation guidance, see Special Instructions on Mayo website. In this document, the sizes are given as 4mm x 4mm x 10 slides as preferred: approximate/equivalent to 144 mm(2) and the minimum as 3mm x 1mm x 10 slides: approximate/equivalent to 36mm(2).

Specimen Stability Information
Specimen TypeTemperature
​Varies ​ ​​Ambient (preferred)
​Frozen
​Refrigerated
Rejection Criteria
Specimens that have been decalcified (all methods) Specimens that have not been formalin-fixed, paraffin-embedded
Interference

​This test cannot differentiate between somatic and germline alterations. Additional testing may be necessary to clarify the significance of results if there is a potential hereditary risk.

DNA variants of uncertain significance may be identified.

A negative (wild-type) result does not rule out the presence of a mutation that may be present but below the limits of detection of this assay.

Point mutations and small insertion/deletion mutations will be detected with in the promoter region of the TERT gene only.

This test does not detect structural variants, genomic copy number variants, or large single or multiexon deletions or duplications in the TERT gene.

Rare polymorphisms may be present that could lead to false-negative or false-positive results. Test results should be interpreted in the context of clinical findings, tumor sampling, and other laboratory data. If results obtained do not match other clinical or laboratory findings, contact the laboratory for updated interpretation. Misinterpretation of results may occur if the information provided is inaccurate or incomplete.

Reliable results are dependent on adequate specimen collection and processing. This test has been validated on cytology slides and formalin-fixed, paraffin-embedded tissues; other types of fixatives are discouraged. Improper treatment of tissues, such as decalcification, may cause PCR failure. 

Useful For

Assisting in central nervous system tumor classification

This test is not useful for hematological malignancies.

Reference Range Information
Performing LocationReference Range
​Mayo Clinic Laboratories​An interpretive report will be provided.
Interpretation

​An interpretive report will be provided. 

For more information visit:
Performing Laboratory Information
Performing LocationDay(s) Test PerformedAnalytical TimeMethodology/Instrumentation
​Mayo Clinic Laboratories​Monday through Friday​12-20 days​Polymerase Chain Reaction (PCR)-Based Next-Generation Sequencing
Reference Lab
For billing questions, see Contacts
Outreach CPTs
CPTModifier
(if needed)
QuantityDescriptionComments
​81345​1
​88381​1
For most current information refer to the Marshfield Laboratory online reference manual.