J Clin Endocrinol Metab. 2013 Jun 20. [Epub ahead of print] CIRCULATING BRAFV600E IN THE DIAGNOSIS AND FOLLOW UP OF DIFFERENTIATED PAPILLARY THYROID CARCINOMA Pupilli C, Pinzani P, Salvianti F, Fibbi B, Rossi M, Petrone L, Perigli G, De Feo M, Vezzosi V, Pazzagli M, Orlando C, Forti G. Source Endocrinology Unit, Careggi University Hospital, Florence, Italy. Abstract Context: Cell-free nucleic acids circulating in plasma are considered a promising non-invasive tool for cancer monitoring. BRAFV600E mutation in cell-free DNA (cfDNA) could represent an appropriate marker for papillary thyroid carcinoma (PTC). Objective: Our aim is to investigate the role of BRAFV600E mutated allele in cfDNA as a marker for the diagnosis and follow up of PTC. Study Design:BRAFV600E allele was detected and quantified by an allele-specific qPCR assay in plasma from 103 patients affected by nodular goiter. As control populations we enrolled 49 healthy subjects and 16 patients with non nodular thyroid diseases (NNT). Results:The percentage of circulating BRAFV600E was significantly different between patients and controls and throughout different cytological categories of ultrasound-assisted fine-needle aspiration (US-FNA). Patients with histopathological diagnosis of PTC showed a higher percentage of circulating BRAFV600E (p=0.035) compared to those with benign histology.In 19 patients a second blood draw, taken 3-6 months after surgery, showed a lower percentage of BRAFV600E in cfDNA than the pre-surgical sample (p
Posted on: Mon, 24 Jun 2013 23:25:18 +0000
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