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HelpTest ID: POLET POLE Mutation Analysis, Next-Generation Sequencing, Tumor
Ordering Guidance
Multiple oncology (cancer) gene panels are available. For more information see Hematology, Oncology, and Hereditary Test Selection Guide.
Necessary Information
A pathology report (final or preliminary), at minimum containing the following information, must accompany specimen 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: tissue 216 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 Tissue Requirement for Solid Tumor Next-Generation Sequencing. In this document, the sizes are given as 4 mm x 4 mm x 10 slides as preferred: approximate/equivalent to 144 mm(2) and the minimum as 3 mm x 1 mm x 10 slides: approximate/equivalent to 36 mm(2).
Preferred:
Specimen Type: Tissue block
Collection Instructions: Submit a formalin-fixed, paraffin-embedded tissue block with acceptable amount of tumor tissue.
Acceptable:
Specimen Type: Tissue slide
Slides: 1 Stained and 10 unstained
Collection Instructions: Submit 1 slide stained with hematoxylin and eosin and 10 unstained, nonbaked slides with 5-micron thick sections of the tumor tissue.
Note: The total amount of required tumor nuclei can be obtained by scraping up to 10 slides from the same block.
Additional Information: Unused unstained slides will not be returned.
Specimen Type: Cytology slide (direct smears or ThinPrep)
Slides: 1 to 3 Slides
Collection Instructions: Submit 1 to 3 slides stained and coverslipped with a preferred total of 5000 nucleated cells, or a minimum of at least 3000 nucleated cells.
Note: Glass coverslips are preferred; plastic coverslips are acceptable but will result in longer turnaround times.
Additional Information: Cytology slides will not be returned.
Useful For
Identifying specific mutations within the POLE gene to assist in tumor diagnosis/classification
Genetics Test Information
This test uses targeted next-generation sequencing to evaluate for somatic mutations within the POLE gene. See Targeted Genes and Methodology Details for POLE Mutation Analysis for details regarding the targeted gene regions evaluated by this test.
This test is performed to evaluate for somatic mutations within solid tumor samples. This test does not assess for germline alterations within the POLE gene.
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
Sequence Capture Next-Generation Sequencing (NGS)
Reporting Name
POLE Mutation Analysis, TumorSpecimen Type
VariesSpecimen Minimum Volume
See Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Refrigerated | |||
Clinical Information
This test uses formalin-fixed paraffin-embedded tissue or cytology slides to assess for mutations involving the POLE gene known to be associated with a variety of tumor types, including endometrial, ovarian, lung, and colorectal cancers, and diffuse glioma. POLE (exonuclease domain) alterations are typically associated with ultramutated tumors with a high tumor mutation burden and may occur as a part of constitutional replication repair deficiency syndrome.
Reference Values
An interpretive report will be provided.
Interpretation
The interpretation of molecular biomarker analysis includes an overview of the results and the associated diagnostic, prognostic, and therapeutic implications.
Clinical Reference
1. Strom SP. Current practices and guidelines for clinical next-generation sequencing oncology testing. Cancer Biol Med. 2016;13(1):3-11. doi:10.28092/j.issn.2095-3941.2016.0004
2. Spurr L, Li M, Alomran N, et al. Systematic pan-cancer analysis of somatic allele frequency. Sci Rep. 2018;8(1):7735. Published 2018 May 16. doi:10.1038/s41598-018-25462-0
3. Cancer Genome Atlas Network: Comprehensive molecular characterization of human colon and rectal cancer. Nature. 2012;487(7407):330-337
4. Church DN, Briggs SE, Palles C,et al: DNA polymerase e and d exonuclease domain mutations in endometrial cancer. Hum Mol Genet. 2013;22(14):2820-8
5. Hoang LN, McConechy MK, Kobel M, et al. Polymerase Epsilon Exonuclease Domain Mutations in Ovarian Endometrioid Carcinoma. Int J Gynecol Cancer. 2015;25(7):1187-1193
6. Palles C, Cazier JB, Howarth KM,et al: Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet. 2013;45(2):136-144
7. Rohlin A, Zagoras T, Nilsson Set al. A mutation in POLE predisposing to a multi-tumour phenotype. Int J Oncol. 2014;45(1):77-81
8. Jumaah AS, Salim MM, Al-Haddad HS, et al: The frequency of POLE-mutation in endometrial carcinoma and prognostic implications: a systemic review and meta-analysis. J Pathol Transl Med. 2020;54(6):471-479
9. Wu Q, Zhang N, Xie X: The clinicopathological characteristics of POLE-mutated/ultramutated endometrial carcinoma and prognostic value of POLE status: a meta-analysis based on 49 articles incorporating 12,120 patients. BMC Cancer. 2022;22(1):1157
10. Leon-Castillo A, Britton H, McConechy MK, et al: Interpretation of somatic POLE mutations in endometrial carcinoma. J Pathol. 2020;250(3):323-335
Day(s) Performed
Monday through Friday
Report Available
12 to 20 daysTest Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
88381-Microdissection, manual
81479
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| POLET | POLE Mutation Analysis, Tumor | 105597-9 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 619677 | Result | 82939-0 |
| 619678 | Interpretation | 69047-9 |
| 619679 | Additional Information | 48767-8 |
| 619680 | Specimen | 31208-2 |
| 619681 | Tissue ID | 80398-1 |
| 619682 | Method | 48767-8 |
| 619683 | Disclaimer | 62364-5 |
| 619684 | Released By | 18771-6 |
Forms
If not ordering electronically, complete, print, and send an Oncology Test Request (T729) with the specimen.
mcl-oncology; mcl-moltechtestmenu