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Test ID: BRAFM    
BRAF Mutation Analysis (V600), Melanoma

Useful For Suggests clinical disorders or settings where the test may be helpful

Identification of melanoma tumors that may respond to BRAF-targeted therapies

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Assessment for BRAF V600 mutations has clinical utility in that it is a predictor of response to antimutant BRAF therapy. BRAF 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. Targeted therapies directed to components of this pathway have demonstrated some success with increases both in progression-free and overall survival in patients with certain tumors. Effectiveness of these therapies, however, depends in part on the mutation status of the pathway components.

 

Malignant melanoma, one of the most aggressive forms of skin cancer, has a high frequency of BRAF mutations. Approximately 44% to 70% of melanoma cases have a BRAF mutation, and of those, approximately 50% to 90% are the V600E mutation. Current data suggest that the efficacy of BRAF-targeted therapies in melanoma is confined to patients with tumors with activating BRAF mutations, such as V600E, which leads to increased activation of the kinase pathway. While this test was designed to evaluate for the V600E alteration, cross-reactivity with other alterations at the V600 codon have been described.  

At this time, this test is approved specifically for melanoma tumors. Please refer to BRAF / BRAF Mutation Analysis (V600E), Tumor for BRAF testing in nonmelanoma tumors.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretative report will be provided.

Interpretation Provides information to assist in interpretation of the test results

An interpretative report will be provided.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

Not all patients that have BRAF mutations respond to BRAF-targeted therapies.

 

Rare polymorphisms exist that could lead to false-negative or false-positive results.

 

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.

Clinical Reference Provides recommendations for further in-depth reading of a clinical nature

1. Anderson S, Bloom KJ, Vallera DU, et al: Multisite analytic performance studies of a real-time polymerase chain reaction assay for the detection of BRAF V600E mutations in formalin-fixed paraffin-embedded tissue specimens of malignant melanoma. Arch Pathol Lab Med 2012 Feb;136:1-7

2. 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 Jun;364(26):2507-2516

3. Package insert: Cobas 4800 V600 Mutation Test. Roche Molecular Systems, Inc, Branchburg, NJ; February 2011

4. Dhomen N, Marais R: BRAF signaling and targeted therapies in melanoma. Hematol Oncol Clin North Am 2009 Jun;23(3):529-545, ix

5. Flaherty KT, Puzanov I, Kim KB, et al: Inhibition of mutated, activated BRAF in metastatic melanoma. N Engl J Med 2010 Aug;363(9):809-819

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test