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HelpMayo Test ID BRAFD BRAF V600E/V600K Somatic Mutation Analysis, 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
Preferred:
Specimen Type: Tissue block
Collection Instructions: Submit a formalin-fixed, paraffin-embedded tissue block.
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.
Useful For
Therapy selection for patients with cancer (eg, melanomas that may respond to BRAF inhibitors, colon cancers that may not respond to EGFR inhibitors)
Aiding in the diagnosis/prognosis of certain cancers (eg, hairy cell leukemia, papillary thyroid cancers, and association with aggressiveness)
Aiding in determining risk for Lynch syndrome (eg, an adjunct to negative MLH1 germline testing in cases where colon tumor demonstrates MSI-H and loss of MLH1 protein expression)
This test is not intended as a screening test to identify cancer.
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.
For more information see Lynch Syndrome Testing Algorithm.
Special Instructions
Method Name
Droplet Digital Polymerase Chain Reaction (ddPCR)
Reporting Name
BRAF V600 Somatic Mutation Analysis, TumorSpecimen Type
VariesSpecimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| 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
This test assesses for somatic (tumor-specific) BRAF V600E and V600K mutation. The BRAF gene is a member of the mitogen-activated protein/extracellular signal-regulated (MAP/ERK) kinase pathway, which plays a role in cell proliferation and differentiation. Dysregulation of this pathway is a key factor in tumor progression and BRAF mutations occur frequently in many different tumor types. BRAF mutation analysis aids in the diagnosis of cancer types including anaplastic and papillary thyroid carcinoma, hairy cell leukemia, and papillary craniopharyngioma.
BRAF V600E and V600K mutations are associated with response or resistance to specific targeted therapies in cancer. Targeted cancer therapies are defined as antibody or small molecule drugs that block the growth and spread of cancer by interfering with specific cell molecules involved in tumor growth and progression. Multiple targeted therapies have been approved by the US Food and Drug Administration for treatment of specific cancers. Molecular genetic profiling is often needed to identify targets amenable to targeted therapies and to minimize treatment costs and therapy-associated risks.
BRAF mutation analysis can provide helpful diagnostic information in the context of evaluation for Lynch syndrome. For more information see Lynch Syndrome Testing Algorithm.
Interpretation
The interpretation of molecular biomarker analysis includes an overview of the results and the associated diagnostic, prognostic, and therapeutic implications.
Cautions
Not all tumors that have BRAF mutations respond to BRAF-targeted therapies.
Rare genetic alterations (ie, polymorphisms) exist that could lead to false-negative or false-positive results.
This assay was designed to detect V600E and V600K alterations. The sensitivity for rarer V600 alterations has not been established.
Test results should be interpreted in context of clinical findings, tumor sampling, and other laboratory data. If results obtained do not match other clinical or laboratory findings, please contact the laboratory for possible 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 formalin-fixed, paraffin-embedded tissues; other types of fixatives are discouraged. Improper treatment of tissues, such as decalcification, may cause polymerase chain reaction failure.
Colon cancer is relatively common, and it is possible for a sporadic colon cancer to occur in a Lynch syndrome family. Therefore, evaluation of other family members should still be considered in cases with MLH1 promoter hypermethylation and absence of the BRAF V600E mutation if there is high clinical suspicion of Lynch syndrome.
This test is not validated for serial monitoring of patients with cancer.
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.
Clinical Reference
1. Chapman PB, Hauschild A, Robert C, et al. BRIM-3 Study Group. Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N Engl J Med. 2011;364(26):2507-2516
2. Di Nicolantonio F, Martini M, Molinari F, et al. Wild-type BRAF is required for response to panitumumab or cetuximab in metastatic colorectal cancer. J Clin Oncol. 2008;26(35):5705-5712
3. Hyman DM, Puzanov I, Subbiah V, et al. Vemurafenib in multiple nonmelanoma cancers with BRAF V600 mutations. N Engl J Med. 2015;373(8):726-736
4. Domingo E, Laiho P, Ollikainen M, et al. BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. J Med Genet. 2004;41(9):664-668
Method Description
Droplet digital polymerase chain reaction-based assay to detect the presence of the BRAF V600E and BRAF V600K alterations.(Unpublished Mayo method)
Day(s) Performed
Varies
Report Available
6 to 12 daysSpecimen Retention Time
FFPE tissue: Unused portions of FPPE 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
81210
88381-Microdissection, manual
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| BRAFD | BRAF V600 Somatic Mutation Analysis, Tumor | 97025-1 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 608306 | Result Summary | 50397-9 |
| 608307 | Result | 97025-1 |
| 608308 | Interpretation | 69047-9 |
| 608309 | Additional Information | 48767-8 |
| 608310 | Specimen | 31208-2 |
| 608311 | Source | 31208-2 |
| 608312 | Released By | 18771-6 |
| 608235 | Method | 85069-3 |
| 608222 | Tissue ID | 80398-1 |
| 606746 | Disclaimer | 62364-5 |
Reference Values
An interpretive report will be provided.
Specimen Minimum Volume
See Specimen Required