Result Test Name
QUEST BRAF MUTATION
Laboratory
QUEST LAB
Result Test Code
123924726
Laboratory Test Name
QUEST BRAF MUTATION ANALYSIS
Reportable Test Name
-
Result LOINC
53844-7
Collection Container
PATH CONTAINER
Units
-
Collection Requirements
Preferred Specimen(s) Formalin-fixed paraffin-embedded tissue Alternative Specimen(s) 5 mL whole blood or 3 mL bone marrow aspirate collected in an EDTA (lavender-top) tube or sodium heparin (green-top) tube 8 unstained charged (+) slides Minimum Volume Whole blood: 3 mL Bone marrow aspirate: 1 mL Unstained charged (+) slides: 4 Collection Instructions Paraffin block: Tissue source and block ID are required on the requisition form. A pathology report must be submitted. Whole blood in EDTA: Sample type collection time and date should be entered on tube and requisition form. Ship samples immediately to maintain stability. Shipping samples refrigerated is preferred; Shipping at room temperature is acceptable. Do not reject specimens send to laboratory for screening.
Container Temp
Room Temperature (1)
Container Volume
1.000
Test Info
BRAF Mutation Analysis - BRAF encodes a serine/threonin protein kinase downstream of the epidermal growth factor receptor (EGFR) and the RAS family of small G-proteins (KRAS HRAS and NRAS) in the MAPK pathway. BRAF is mutated in approximately 8-10% of human tumors (Davis et al. 2002) most frequently in melanoma (50-70%) and in papillary thyroid cancer (36-69%). BRAF muations are also found with lower frequency in colorectal cancer (5-12%) non-small cell lung cancer (NSCLC) acute myeloid leukemia (AML) glioma sarcomas breast cancer heptoma and ovarian cancer. BRAF mutations are found clustered within the P-loop (exons 11 & 12) and activation domain (exon 15) of the kinase domain. A single glutamic acid for valine substitution at codon 600 (V600E) in exon 15 comprises approximately 90% of BRAF somatic mutations in cancer. In general BRAF V600E mutations do not coexist with RAS mutations in the same tumor cells suggesting that each of these genetic alterations is sufficient for activating downstream effectors that initiate or promote tumorigenesis. The BRAF V600E mutation is also associated with significantly poor prognosis and higher recurrent and persistent disease in patients with melanomas colorectal carcinoma and papillary thyroid cancers. In patients with metastatic colorectal cancer the presence of the BRAF V600E mutation in tumors with wild-type KRAS is associated with resistance to EGFR inhibitor therapy. In contrast in patients with metastatic melanoma BRAF V600E mutation may predict for response to BRAF inhibitors. Therefore BRAF mutation analysis may be used either as a standalone test for the selection of cancer patients who might benefit from BRAF inhibitor therapies or as an additional tool (along with RAS mutation analysis) for the selection of metastatic colorectal cancer patients that might benefit from EGFR-targeted therapies.
Shipping Instructions
Transport Container Formalin-fixed paraffin-embedded tissue block Transport Temperature Room temperature Specimen Stability FFPE Tissue/Slides Room temperature: 5 years Refrigerated: 5 years Frozen: Unacceptable Whole blood/Bone marrow Room temperature: 7 days Refrigerated: 14 days Frozen: Unacceptable Reject Criteria Received frozen