BRAF p.Val600Glu testing in papillary thyroid carcinoma
Record ID 32013000314
English
Authors' recommendations:
The incidence of thyroid carcinoma is rising steadily; in the United States, approximately 48,000 new cases were diagnosed and 1700 deaths were attributed to the disease in 2011. While thyroid cancer occurs more in women, it is more often fatal in men, and it is more common in whites than in blacks. Thyroid carcinoma is categorized into 3 histological types: differentiated, medullary, and anaplastic. A subtype of differentiated thyroid carcinoma, papillary thyroid carcinoma (PTC), comprised 80% of all treated thyroid cancers between 1985 and 1995. PTC often presents as a single thyroid nodule, the evaluation of which may be challenging. Fine-needle aspiration (FNA) biopsy is performed if ultrasound, clinical features, and thyroid-stimulating hormone (TSH) levels suggest malignancy may be present. FNA specimens are traditionally examined and categorized using cytological methods, and the results are used to evaluate risk and direct treatment, including the extent of surgical resection. In 20% to 30% of cases, results of FNA may be indeterminate. Traditional clinicopathologic risk factors are therefore also used to evaluate risk and guide treatment. Established high-risk factors include age > 40 years, male sex, larger tumor size, lymph node metastasis and distal metastasis, extrathyroidal tumor invasion, absence of tumor capsule, and advanced disease stage. After surgery, evaluation of residual disease guides subsequent treatment, which may include repeat surgery, external beam radiation therapy (EBRT) or radioiodine treatment, and suppression of TSH with levothyroxine. The 10-year survival rate for PTC is 93%. A significant proportion of patients, however, experience recurrence of disease—approximately 20% by 10 years and 30% by 30 years after treatment. While mortality is low, recurrence represents a significant economic impact and impingement on the quality of life for patients; therefore, improvement in initial treatment and prevention of recurrence is an area of active research interest. Genetic testing has recently been investigated for use in guiding thyroid cancer treatment and management. Variants in the v-raf murine sarcoma viral oncogene homolog B1 (BRAF) gene have been associated with many cancers, including PTC. The most common
BRAF variant is p.Val600Glu, which stimulates cancer development. BRAF p.Val600Glu has emerged as a strong diagnostic indicator for PTC and a factor of interest in evaluation of prognosis due to its ability to be tested preoperatively and its association with high-risk clinicopathologic factors.
Details
Project Status:
Completed
Year Published:
2013
URL for published report:
The report may be purchased from:http://www.hayesinc.com/hayes/crd/?crd=14995
English language abstract:
An English language summary is available
Publication Type:
Not Assigned
Country:
United States
MeSH Terms
- Humans
- DNA Mutational Analysis
- Thyroid Neoplasms
- Proto-Oncogene Proteins B-raf
Contact
Organisation Name:
HAYES, Inc.
Contact Address:
157 S. Broad Street, Suite 200, Lansdale, PA 19446, USA. Tel: 215 855 0615; Fax: 215 855 5218
Contact Name:
saleinfo@hayesinc.com
Contact Email:
saleinfo@hayesinc.com
Copyright:
2013 Winifred S. Hayes, Inc
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