BRAF Mutation Analysis with Interpretation
Label Mnemonic: | BRAF |
Epic code: | LAB1588 |
Order form: |
Molecular Oncology Requisition Comprehensive Hematopathology Requisition |
Supply order: | Supply Order Form |
Billing: | Billing Policies |
CPT code: | 81210 |
Specimen(s):
Formalin fixed, paraffin embedded tissue block or 10 unstained 5-10
μM slides at 20-25°C and an H&E slide of the tissue
Minimum:
Tumor cells more than 50% of the total tissue and greater than
10mm2 in surface area on the block.
Rejection Criteria:
Specimens fixed in B5 fixative or that have been decalcified will
not be accepted. Tumor specimens containing less than 50% tumor
cells or are less than 10mm2 in area may be unacceptable.
Testing Schedule:
Weekly
Turn Around Time:
7-10 working days
Reference Range:
Negative
Comments:
BRAF mutations have been described in primary and metastatic
melanoma (30-70%), papillary thyroid carcinoma (40-70%), colorectal
(5-20%), ovarian (5-10%) and prostate (5-10%) adenocarcinomas,
testicular cancer (25%), cholangiocarcinoma (10-20%), and less
frequently in a variety of other neoplasms including non-small cell
lung cancer and squamous carcinoma of the head and neck. Most BRAF
mutations occur at position c.1799T>A, encoding a missense
p.V600E that results in increased kinase activity and signal
transduction through the MAP kinase pathway.
The presence of BRAF p.V600 activating mutations is generally considered to be a poor prognostic marker in metastatic colorectal cancer, may decrease or abolish the efficacy of therapeutic agents targeting tyrosine kinases proximal to BRAF signaling, and correlates with increased sensitivity to selective BRAF mutant inhibitors.
The presence of BRAF p.V600 activating mutations is generally considered to be a poor prognostic marker in metastatic colorectal cancer, may decrease or abolish the efficacy of therapeutic agents targeting tyrosine kinases proximal to BRAF signaling, and correlates with increased sensitivity to selective BRAF mutant inhibitors.
Methodology:
Polymerase Chain Reaction (PCR) followed by Sequencing
Sample Storage:
Room Temperature.
Transport Instructions:
Place specimen into zip-lock type bag, seal bag.
Place requisition into outside pocket of bag.
Protect block or slides from excessive heat and ship in cooled container during summer months.
Place requisition into outside pocket of bag.
Protect block or slides from excessive heat and ship in cooled container during summer months.