BRAF V600 Mutation Detection, FFPE Tissue

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Molecular test for BRAF mutation in tumor tissue.

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BRAF V600 Mutation Detection FFPE Tissue - Comprehensive Guide

Why is it done?
- Detects the presence of BRAF V600E/K/D/R mutations in formalin-fixed, paraffin-embedded (FFPE) tissue samples, which are point mutations in the BRAF gene located on chromosome 7
- Diagnoses melanoma and determines eligibility for targeted BRAF inhibitor therapy (vemurafenib, dabrafenib, or encorafenib)
- Evaluates colorectal cancer, thyroid cancer, papillary serous ovarian cancer, and other malignancies for BRAF mutations
- Assesses prognosis and predicts treatment response in BRAF-mutant cancers
- Performed routinely on archived tumor tissue samples to guide personalized cancer treatment decisions
- Typically ordered at the time of cancer diagnosis or upon initial pathology review for newly diagnosed malignancies
Normal Range
- Negative Result (Normal): No BRAF V600 mutation detected. This indicates the tumor does not contain the V600E, V600K, V600D, or V600R mutations in the BRAF gene
- Positive Result (Abnormal): BRAF V600 mutation detected, specifying the specific mutation type (V600E being most common at ~80% of BRAF mutations). Result reported as "Mutant" or "Positive"
- Equivocal/Indeterminate Result: Test could not be conclusively determined; may require repeat testing or alternative methodology due to inadequate sample quality, low mutation burden, or technical limitations
- Units of Measurement: Qualitative assessment (Positive/Negative/Detected/Not Detected). May include percentage of mutant alleles if quantitative methods are used (typically 1-100% mutant burden)
Interpretation
- Positive BRAF V600E Mutation: The most common BRAF mutation. Patient is eligible for BRAF inhibitor monotherapy or combination therapy with MEK inhibitors. Associated with worse prognosis in melanoma if untreated. Confirms BRAF-mutant malignancy
- Positive BRAF V600K Mutation: The second most common variant (~15-20% of BRAF mutations). Response to BRAF inhibitors may differ slightly from V600E. Patients still eligible for targeted therapy but may require dose adjustments or alternative agents
- Positive BRAF V600D or V600R Mutations: Rare variants. Patients may benefit from BRAF inhibitor therapy, though clinical data is more limited. Treatment decisions made on case-by-case basis
- Negative BRAF V600 Mutation: Patient is not eligible for BRAF-targeted therapy. Alternative treatment options including immunotherapy, conventional chemotherapy, or other targeted therapies (if other mutations detected) should be considered
- Factors Affecting Results: Sample quality and adequacy, tumor cellularity, fixation method, age of tissue sample, contamination with normal tissue, analytical sensitivity of the testing method (varies by technique used)
- Clinical Significance: BRAF mutations are among the most frequently tested biomarkers in oncology. Presence indicates oncogenic driver mutation with direct therapeutic implications. Enables precision medicine approach to cancer treatment selection
Associated Organs
- Primary Organ Systems: Integumentary system (skin), central nervous system, gastrointestinal system, endocrine system (thyroid), reproductive system (ovaries), lymphatic system
- Melanoma: BRAF mutations present in 40-60% of melanomas. Most common malignancy associated with V600 mutations. Higher mutation rates in non-sun-exposed melanomas and acral/mucosal subtypes
- Colorectal Cancer: BRAF V600E mutations found in 5-15% of colorectal cancers, associated with serrated adenomas, right-sided tumors, and worse prognosis
- Thyroid Cancer: BRAF V600E mutations present in 25-40% of papillary thyroid carcinomas and 30-40% of anaplastic thyroid carcinomas. Associated with aggressive behavior and lymph node metastases
- Ovarian Cancer: BRAF mutations found in papillary serous ovarian cancers and low-grade serous tumors, present in approximately 30-40% of these subtypes
- Other Malignancies: Brain tumors (pilocytic astrocytomas, gliomas), lung adenocarcinomas, gastric cancer, cholangiocarcinoma, and other rare cancers may harbor BRAF mutations
- Potential Complications of Abnormal Results: Disease progression and metastasis if untreated, treatment-related toxicities from BRAF inhibitors (skin reactions, cardiac arrhythmias, secondary malignancies), resistance to therapy with disease relapse, systemic spread of cancer affecting multiple organ systems
Follow-up Tests
- If BRAF Mutation Positive: Consider MEK inhibitor testing; evaluate for other mutations (KIT, NRAS, NF1) that may affect treatment selection; assess MSI/dMMR status in colorectal cancer; order baseline imaging (CT, MRI, PET) to assess disease stage
- If BRAF Mutation Negative: Test for alternative driver mutations (NRAS, KIT, NF1 in melanoma; KRAS in colorectal cancer); perform PD-L1 immunohistochemistry; evaluate MSI status; consider comprehensive genomic profiling for other therapeutic targets
- Complementary Molecular Tests: Next-Generation Sequencing (NGS) panel, NRAS mutation analysis, KIT mutation testing, MEK1/2 mutation analysis, complete tumor genomic profiling
- Immunologic Tests: PD-L1 expression by immunohistochemistry, tumor infiltrating lymphocyte (TIL) assessment, PTEN loss evaluation
- Baseline Laboratory Tests Before Treatment: Complete blood count (CBC), comprehensive metabolic panel (CMP), lactate dehydrogenase (LDH), liver function tests, baseline electrocardiogram (ECG) for cardiac monitoring with BRAF inhibitors
- Monitoring During Treatment: Serial imaging every 8-12 weeks to assess treatment response; repeat lab work every 2-4 weeks during active treatment; monitoring for resistance (repeat tissue biopsy if disease progression suspected to detect secondary mutations)
- Reflex Testing for Equivocal Results: Repeat testing with alternative methodology, high-sensitivity PCR, digital PCR, or NGS for improved sensitivity in low tumor burden samples, or repeat sampling if insufficient material
Fasting Required?
- Fasting Required: No - This is a tissue-based molecular test performed on archived FFPE specimens. No patient fasting is required as no blood or bodily fluid collection is necessary
- Specimen Collection Requirements: Uses existing formalin-fixed, paraffin-embedded tissue samples from prior biopsies or surgical procedures; no new tissue collection needed; specimens should be properly labeled with patient identifiers and diagnosis
- Patient Preparation: No special preparation required; test is performed on stored tissue; patient may continue all normal medications and diet
- Specimen Quality Considerations: Adequate tumor cellularity required (minimum 10-20% depending on methodology); sufficient tissue section thickness for analysis; confirmation that sample is properly fixed and embedded; ensure tumor area contains adequate neoplastic tissue
- No Medications to Avoid: Not applicable; molecular testing on tissue samples is not affected by patient medications or clinical status at time of test

How our test process works!