Mayo Test Catalog, (Sorted By Test Name) - Mayo Medical ...

89045
BRAFM
83837
0 Negative
1 0.35-0.69 Equivocal
2 0.70-3.49 Positive
3 3.50-17.4 Positive
4 17.5-49.9 Strongly positive
5 50.0-99.9 Strongly positive
6 > or =100 Strongly positive Reference values
apply to all ages.
Clinical References: Homburger HA: Allergic diseases. In Clinical Diagnosis and Management
by Laboratory Methods. 21st edition. Edited by McPherson RA, Pincus MR. WB Saunders, Publ, New
York, Chapter 53, Part VI, pp. 961-971, 2007
BRAF Mutation (T1799A) Analysis by PCR and Sequencing,
Thyroid
Clinical Information: Papillary thyroid carcinoma (PTC) accounts for approximately 80% of all
thyroid cancers. The BRAF gene mutation (T1799A) in exon 15 is the most common genetic alteration in
thyroid cancer, occurring in 30% to 70% of sporadic PTC and 10% to 30% of anaplastic thyroid
carcinoma, but not in other types of thyroid tumors.(1-3) Fine-needle aspiration (FNA) biopsy with
cytological analysis is the best preoperative diagnostic method for thyroid tumors, but 15% to 20% of
FNA biopsies yield indeterminate results. Detection of the BRAF mutation (T1799A) can help in the
diagnosis of thyroid tumors, especially for indeterminate cases.
Useful For: Aiding in the diagnosis of papillary thyroid carcinoma or anaplastic thyroid carcinoma in
fine-needle aspirate specimens and formalin-fixed, paraffin-embedded tissue
Interpretation: A negative result does not rule-out the presence of a mutation. A positive result
supports a diagnosis of papillary thyroid carcinoma (PTC) or anaplastic thyroid carcinoma (ATC), but a
negative result does not necessarily rule-out a diagnosis of PTC or ATC.
Reference Values:
Negative
Clinical References: 1. Jin L, Sebo TJ, Nakamura N, et al: BRAF mutation analysis in fine needle
aspiration (FNA) cytology of the thyroid. Diagn Mol Pathol 2006;15:136-143 2. Nakamura N, Carney JA,
Jin L, et al: RASSF1A and NORE1A methylation and BRAFV600E mutations in thyroid tumors. Lab
Invest 2005;85:1065-1075 3. Nikiforova MN, Kimura ET, Gandhi M, et al: BRAF mutations in thyroid
tumors are restricted to papillary carcinomas and anaplastic or poorly differentiated carcinomas arising
from papillary carcinomas. J Clin Endocrinol Metab 2003;88:5399-5404
BRAF Mutation Analysis (V600), Melanoma
Clinical Information: 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
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