Each year, tens of thousands of patients have all or part of their thyroids removed to rule out cancer because of suspicious, but uncertain, test results. In the majority of these cases, however, the suspicious thyroid nodules are ultimately determined to be benign.

Genetic testing may reduce unneeded thyroid surgeries

New research, led by Brigham and Women’s Hospital (BWH) endocrinologist Dr. Erik Alexander, has discovered that a novel diagnostic test, measuring the expression of 167 genes, shows promise in more accurately determining which patients actually require thyroid surgery.

Thyroid nodules are common and can be an early sign of thyroid cancer. Ultrasound-guided needle biopsies accurately identify about 65 to 75 percent of nodules as benign and approximately five to ten percent of thyroid nodule biopsies as malignant. The remaining 15 to 30 percent of thyroid nodules gathered through needle biopsy cannot be clearly identified as either benign or malignant.  For these patients, there remains serious concern about thyroid cancer, and in most cases, all or part of the thyroid is removed for final diagnosis.  However, in the majority of these cases, the thyroid nodule turns out to be benign and the patient has undergone unnecessary surgery.

In a large clinical trial led by Dr. Alexander and conducted at numerous hospitals across the country, the gene expression test was used to evaluate 265 thyroid nodules which were not classified as benign or malignant when collected through a needle biopsy.  Of these suspicious nodules, the study found that the gene-expression test was able to correctly identify nodules as benign in a majority of patients whose nodules were found to be benign after surgical removal.

“Our findings show that the gene expression test can substantially reclassify otherwise inconclusive results from thyroid biopsies and has the potential to drastically reduce unnecessary surgeries,” says Dr. Alexander, a member of the BWH Division of Endocrinology, Diabetes and Hypertension.

Dr. Alexander concludes, “We want to provide the best care that we can for patients, and part of this is reducing unnecessary procedures when possible.”



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