Cell-free nucleic acids circulating in plasma are considered a promising noninvasive tool for cancer monitoring. BRAF(V600E) mutation in cell-free DNA (cfDNA) could represent an appropriate marker for papillary thyroid carcinoma (PTC).Our aim is to investigate the role of BRAF(V600E)-mutated allele in cfDNA as a marker for the diagnosis and follow-up of PTC. Study Design: BRAF(V600E) allele was detected and quantified by an allele-specific real-time quantitative PCR 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.The percentage of circulating BRAF(V600E) was significantly different between patients and controls and throughout different cytological categories of ultrasound-assisted fine-needle aspiration. Patients with a histopathological diagnosis of PTC showed a higher percentage of circulating BRAF(V600E) (P = .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 BRAF(V600E) in cfDNA than the presurgical sample (P < .001). The diagnostic performance of circulating BRAF(V600E) was assessed by receiver operating characteristic curve analysis resulting in an area under the curve of 0.797. A cutoff value was chosen corresponding to maximum specificity (65\%) and sensitivity (80\%). On this basis, we evaluated the predictive value of BRAF(V600E) in Thy 3 patients with a resulting positive predictive value of 33\% and a negative predictive value of 80\%.The results of the present study provide encouraging data supporting the possibility to take advantage of circulating BRAF(V600E) in the management of PTC.

Circulating BRAFV600E in the diagnosis and follow-up of differentiated papillary thyroid carcinoma / Cinzia Pupilli; Pamela Pinzani; Francesca Salvianti; Benedetta Fibbi; Matteo Rossi; Luisa Petrone; Giuliano Perigli; Maria Laura De Feo; Vania Vezzosi; Mario Pazzagli; Claudio Orlando; Gianni Forti. - In: THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM. - ISSN 0021-972X. - ELETTRONICO. - 98:(2013), pp. 3359-3365. [10.1210/jc.2013-1072]

Circulating BRAFV600E in the diagnosis and follow-up of differentiated papillary thyroid carcinoma.

PUPILLI, CINZIA;PINZANI, PAMELA;SALVIANTI, FRANCESCA;FIBBI, BENEDETTA;ROSSI, MATTEO;PETRONE, LUISA;PERIGLI, GIULIANO;VEZZOSI, VANIA;PAZZAGLI, MARIO;ORLANDO, CLAUDIO;FORTI, GIANNI
2013

Abstract

Cell-free nucleic acids circulating in plasma are considered a promising noninvasive tool for cancer monitoring. BRAF(V600E) mutation in cell-free DNA (cfDNA) could represent an appropriate marker for papillary thyroid carcinoma (PTC).Our aim is to investigate the role of BRAF(V600E)-mutated allele in cfDNA as a marker for the diagnosis and follow-up of PTC. Study Design: BRAF(V600E) allele was detected and quantified by an allele-specific real-time quantitative PCR 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.The percentage of circulating BRAF(V600E) was significantly different between patients and controls and throughout different cytological categories of ultrasound-assisted fine-needle aspiration. Patients with a histopathological diagnosis of PTC showed a higher percentage of circulating BRAF(V600E) (P = .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 BRAF(V600E) in cfDNA than the presurgical sample (P < .001). The diagnostic performance of circulating BRAF(V600E) was assessed by receiver operating characteristic curve analysis resulting in an area under the curve of 0.797. A cutoff value was chosen corresponding to maximum specificity (65\%) and sensitivity (80\%). On this basis, we evaluated the predictive value of BRAF(V600E) in Thy 3 patients with a resulting positive predictive value of 33\% and a negative predictive value of 80\%.The results of the present study provide encouraging data supporting the possibility to take advantage of circulating BRAF(V600E) in the management of PTC.
2013
98
3359
3365
Cinzia Pupilli; Pamela Pinzani; Francesca Salvianti; Benedetta Fibbi; Matteo Rossi; Luisa Petrone; Giuliano Perigli; Maria Laura De Feo; Vania Vezzos...espandi
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/822400
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