Molecular Diagnostics of Fine Needle Aspiration for the Presurgical Screening of Thyroid Nodules
“The incidence of thyroid cancer, the most common endocrine malignancy, is rising. The two most common
types of thyroid cancer are papillary and follicular” thyroid carcinomas. “Fine-needle aspiration (FNA) of thyroid nodules”
can permit to detect many genetic mutations and other molecular alterations, including RAS and BRAF point mutations,
PAX8/peroxisome proliferator-activated receptor (PPAR)γ and “RET/PTC rearrangements, occurring in thyroid
papillary and follicular carcinomas” (more than 70% of cases), which can be used successfully to improve the diagnosis
“and the management of patients with thyroid nodules”. The most extensive experience has been accumulated with “the
diagnostic use of BRAF mutation”, which is highly specific for malignancy. “Testing FNA samples for a panel of mutations”
that typically includes RAS, BRAF, PAX8/PPAR and RET/PTC could permit to achieve the biggest diagnostic
impact. “The accuracy of cancer diagnosis in thyroid nodules could be improved significantly using these and other
emerging molecular markers”.
Keywords: Thyroid nodules, Thyroid cancer, Cytology, RET, BRAF, RAS, PAX8/PPARγ.
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