Home
HelpMayo Test ID TMSI Microsatellite Instability, Tumor
Necessary Information
1. A pathology report (final or preliminary) is required and must accompany specimen for testing to be performed.
2. The following information must be included in the report provided.
-Patient name
-Block number-must be on all blocks, slides and paperwork (can be handwritten on the paperwork)
-Date of tissue collection
-Source of the tissue
Specimen Required
This assay requires at least 40% tumor nuclei for endometrial specimens and at least 20% tumor nuclei for colorectal specimens.
-Preferred amount of tumor area with sufficient percent tumor nuclei: tissue 72 mm(2)
-Minimum amount of tumor area: 18 mm(2)
-These amounts are cumulative over up to 10 unstained slides and must have adequate percent tumor nuclei.
-Tissue fixation: formalin-fixed paraffin-embedded, non-decalcified
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 Hematoxylin and eosin stained and 5 unstained
Collection Instructions: Submit 1 slide stained with hematoxylin and eosin and 5 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 5 slides from the same block.
Useful For
Evaluation of tumor tissue to identify patients at high risk for having Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer
Evaluation of tumor tissue for clinical decision-making purposes given the prognostic and therapeutic implications associated with microsatellite instability phenotypes
Testing Algorithm
When this test is ordered, slide review will always be performed at an additional charge.
For more information see Lynch Syndrome Testing Algorithm
Special Instructions
Method Name
Polymerase Chain Reaction (PCR)
Reporting Name
Tumor, Microsatellite InstabilitySpecimen Type
VariesSpecimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Frozen | |||
| Refrigerated | |||
Reject Due To
| Specimens that have been decalcified (all methods) Specimens that have not been formalin-fixed, paraffin-embedded Bone marrow in EDTA |
Reject |
Clinical Information
Somatic (tumor-specific) microsatellite instability (MSI) is assessed by this test. MSI is characterized by numerous alterations in a type of repetitive DNA called microsatellites and occurs as the result of an impaired DNA mismatch repair process. Impaired DNA mismatch repair is a key factor in tumorigenesis and can occur sporadically or as the result of a hereditary cancer predisposition called Lynch syndrome.
Evaluation for MSI may be valuable for clinical decision making. Current data suggest that advanced stage solid tumors with defective DNA mismatch repair (MSI-high: MSI-H) are more likely to respond to treatment with immunotherapies, such as anti-PD-1 therapies. Colon cancers that demonstrate defective DNA mismatch repair (MSI-H) have a significantly better prognosis compared to those with intact mismatch repair (microsatellite stable/MSI- low: MSS/MSI-L). Additionally, current data indicate that stage II and stage III patients with colon cancers characterized by the presence of defective mismatch repair (MSI-H) may not benefit from treatment with fluorouracil alone or in combination with leucovorin. These findings are most likely to impact the management of patients with stage II disease.
MSI analysis, usually in combination with immunohistochemistry staining of the mismatch repair proteins, can also provide helpful diagnostic information in the context of evaluation for Lynch syndrome. See Lynch Syndrome Testing Algorithm.
Reference Values
An interpretive report will be provided.
Interpretation
The report will include specimen information, assay information, and interpretation of test results.
Microsatellite stable (MSS) is reported as MSS (0 or 1 of 7 markers demonstrating instability) or microsatellite instability-high (MSI-H) (2 or more of 7 markers demonstrating instability).
Cautions
The finding of tumor microsatellite instability does not distinguish between somatic and germline alterations.
Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in the interpretation of results may occur if requested information is inaccurate or incomplete.
Clinical Reference
1. Baudhuin LM, Burgart LJ, Leontovich O, Thibodeau SN. Use of microsatellite instability and immunohistochemistry testing for the identification of individuals at risk for Lynch syndrome. Fam Cancer. 2005;4(3):255-265
2. Terdiman JP, Gum JR Jr, Conrad PG, et al. Efficient detection of hereditary nonpolyposis colorectal cancer gene carriers by screening for tumor microsatellite instability before germline genetic testing. Gastroenterology. 2001;120(1):21-30
3. Popat S, Hubner R, Houlston RS. Systematic review of microsatellite instability and colorectal cancer prognosis. J Clin Oncol. 2005;23(3):609-618
4. Ribic CM, Sargent DJ, Moore MJ, et al. Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer. N Engl J Med. 2003;349(3):247-257
5. Idos G, Valle L. Lynch syndrome. In: Adam MP, Mirzaa GM, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2004. Updated February 4, 2021. Accessed July 30, 2024. Available at www.ncbi.nlm.nih.gov/books/NBK1211/
6. Kawakami H, Zaanan A, Sinicrope FA. Microsatellite instability testing and its role in the management of colorectal cancer. Curr Treat Options Oncol. 2015;16(7):30
7. Sargent DJ, Marsoni S, Monges G, et al. Defective mismatch repair as a predictive marker for lack of efficacy of fluorouracil-based adjuvant therapy in colon cancer. J Clin Oncol. 2010;28(20):3219-3226
8. Le DT, Durham JN, Smith KN, et al. Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade. Science. 2017;357(6349):409-413
9. Overman MJ, Lonardi S, Wong KYM, et al. Durable clinical benefit with nivolumab plus ipilimumab in DNA mismatch repair-deficient/microsatellite instability-high metastatic colorectal cancer. J Clin Oncol. 2018;36(8):773-779
Method Description
The Idylla is a fully automated real-time polymerase chain reaction based molecular testing system that uses formalin-fixed, paraffin-embedded slides. This assay detects a novel panel of 7 monomorphic biomarkers (ACVR2A, BTBD7, DIDO1, MRE11, RYR3, SEC31A, SULF2) to evaluate microsatellite instability status without need for normal (noncancerous) tissue from each patient.(Unpublished Mayo method)
Day(s) Performed
Varies
Report Available
4 to 7 daysSpecimen Retention Time
FFPE tissue: Unused portions of FFPE blocks will be returned. Unused, unstained slides: 5 years; Stained slides: Indefinitely.Performing Laboratory
Mayo Clinic Laboratories in Rochester
Test 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
81301
88381-Microdissection, manual
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| TMSI | Tumor, Microsatellite Instability | 81711-4 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 609365 | Result Summary | 50397-9 |
| 609366 | Result | 43368-0 |
| 609367 | Interpretation | 69047-9 |
| 609368 | Specimen | 31208-2 |
| 609369 | Source | 31208-2 |
| 609370 | Tissue ID | 80398-1 |
| 609371 | Released By | 18771-6 |
Additional Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| SLIRV | Slide Review in MG | No, (Bill only) | Yes |
Specimen Minimum Volume
See Specimen Required