Test Directory

Clinical significance

Mutations in the B-Raf proto-oncogene, serine/threonine kinase (BRAF) gene located at 7q34 are primarily observed in thyroid cancer. Among thyroid cancers, the frequency of BRAF mutations in papillary thyroid cancer (PTC), follicular thyroid cancer (FTC), poorly differentiated thyroid cancer (DTC), and anaplastic thyroid cancer (ATC) is approximately 40-45%, 1.3%, 20-40%, and 30-40%, respectively. Furthermore, among patients with BRAF mutations, the frequency of the BRAF V600E mutation (c. T1799A: the most common mutation) is reported to be 99.7%, 75%, 100%, and 98% in PTC, FTC, DTC, and ATC, respectively. Responses to non-specific BRAF inhibitors as therapeutic agents have been reported to vary, but are generally considered to have a poor prognosis.

Additionally, BRAF mutations have been reported in other conditions or tumors such as cardiofaciocutaneous syndrome, giant congenital melanocytic nevus, multiple lentigines syndrome, Noonan syndrome, Langerhans cell histiocytosis, Erdheim-Chester disease, melanoma, cancers of the colon and rectum, ovary, and more.

Specimen Collection Instructions

● Collection Method: Collect bone marrow in a sterile manner, mix it well to prevent coagulation, and transport it immediately to the laboratory. In unavoidable circumstances, maintain refrigeration during transportation.

● When requesting the test, provide sufficient clinical information, the purpose of the request, and previous results along with the test request form and the genetic test consent form.

Related diseases

AML, AML-M4Eo (acute myelomonocytic leukemia)

CML (blast phase)