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Test Code 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.


Secondary ID

608305

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.

Disease States

  • Colorectal 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, Tumor

Specimen Type

Varies

Specimen 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 days

Specimen 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.

Forms

If not ordering electronically, complete, print, and send an Oncology Test Request (T729) with the specimen.

Genetics Test Information

This test evaluates tumor DNA for the presence of BRAF V600E or V600K mutations in patients with cancer and can be used to determine if these patients are candidates for targeted therapies.

Specimen Minimum Volume

See Specimen Required