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Test Code TERT TERT Promoter Analysis, Tumor


Advisory Information


At least 20% tumor is required for this assay. The amount of tissue needed is dependent on a variety of preanalytical factors (eg, cellularity, ischemic time, fixation). In general, the minimum specimen adequacy for this test is approximately a 6 mm(2) area of tissue (can be over multiple slides from 1 tissue block) or 5,000 total cells (5,000 total nucleated cells if using cytology slides).



Necessary Information


Pathology report must accompany specimen in order for testing to be performed.



Specimen Required


Preferred

Specimen Type: Tissue block

Collection Instructions: Submit a formalin-fixed, paraffin-embedded tissue block

Acceptable

Slides: 1 stained and 10 unstained slides

Collection Instructions: Submit 1 slide stained with hematoxylin and eosin and 10 unstained slides (nonbaked, charged slides preferred) with 5-micron thick sections of the tumor tissue.

 

Specimen Type: Cytology slide (Direct smears or ThinPrep)

Slides: 1-2 slides

Collection Instructions: Submit 1-2 slides stained and coverslipped with at least 5,000 total nucleated cells

Additional Information: Cytology slides will not be returned.


Forms

If not ordering electronically, complete, print, and send an Oncology Test Request Form (T729) with the specimen (http://www.mayomedicallaboratories.com/it-mmfiles/oncology-request-form.pdf)

Secondary ID

65415

Useful For

Assisting in central nervous system tumor classification

Additional Tests

Test ID Reporting Name Available Separately Always Performed
SLIRV Slide Review in MG No, (Bill Only) Yes

Testing Algorithm

When this test is ordered, slide review will always be performed at an additional charge.

Method Name

Polymerase Chain Reaction (PCR)-Based Next-Generation Sequencing

Reporting Name

TERT Promoter Analysis, Tumor

Specimen Type

Varies

Specimen Minimum Volume

Formalin-fixed, paraffin-embedded tissue block (preferred) or 1 slide stained with hematoxylin and eosin and 10 unstained, non-baked slides with 5-microns thick sections of the tumor tissue with at least 6 mm(2) area of tissue (can be over multiple slides from one tissue block) and at least 20% tumor cells

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Reject Due To

No specimen should be rejected.

Clinical 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 Values

An interpretative report will be provided.

Interpretation

An interpretive report will be provided.

Clinical Reference

1. Killela PJ, Reitman ZJ, Jiao Y, et al: TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal. Proc Natl Acad Sci USA. 2013;110(15):6021-6026

2. Brennan CW, Verhaak RG, McKenna A, et al: The somatic genomic landscape of glioblastoma. Cell. 2013;155(2):462-477

3. Koelsche C, Sahm F, Capper D, et al: Distribution of TERT promoter mutations in pediatric and adult tumors of the nervous system. Acta Neuropathol. 2013 Dec;126(6):907-915

4. Eckel-Passow JE, Lachance DH, Molinaro AM, et al: Glioma Groups Based on 1p/19q, IDH, and TERT Promoter Mutations in Tumors. N Engl J Med. 2015;372(26):2499-2508

5. Cancer Genome Atlas Research Network, Brat DJ, Verhaak RG, et al: Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas. N Engl J Med. 2015;372(26):2481-2498

6. Bell RJ, Rube HT, Xavier-Magalhaes A, et al: Understanding TERT Promoter Mutations: A Common Path to Immortality. Mol Cancer Res. 2016;14(4):315-323

7. Horn S, Figl A, Rachakonda PS, et al: TERT promoter mutations in familial and sporadic melanoma. Science. 2013;339(6122):959-961

8. Huang FW, Hodis E, Xu MJ, et al: Highly recurrent TERT promoter mutations in human melanoma. Science. 2013;339(6122):957-959

9. Huang DS, Wang Z, He XJ, et al: Recurrent TERT promoter mutations identified in a large-scale study of multiple tumour types are associated with increased TERT expression and telomerase activation. Eur J Cancer. 2015 May;51(8):969-976

10. Pekmezci M, Rice T, Molinaro AM, et al: Adult infiltrating gliomas with WHO 2016 integrated diagnosis: additional prognostic roles of ATRX and TERT. Acta Neuropathol 2017

11. Nault JC, Zucman-Rossi J: TERT promoter mutations in primary liver tumors. Clin Res Hepatol Gastroenterol. 2016 Feb;40(1):9-14Epub 2015 Aug 31

12. Schulze K, Imbeaud S, Letouzé E, et al: Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets. Nat Genet. 2015 May;47(5):505-511

Day(s) and Time(s) Performed

Monday through Friday; Varies

Analytic Time

12 days

Performing Laboratory

Mayo Medical Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81479

88381

LOINC Code Information

Test ID Test Order Name Order LOINC Value
TERT TERT Promoter Analysis, Tumor In Process

 

Result ID Test Result Name Result LOINC Value
92389 Result Summary 50397-9
92390 Result In Process
92391 Interpretation In Process
92392 Additional Information 48767-8
92393 Specimen In Process
92394 Source In Process
92395 Tissue ID In Process
92396 Released By In Process