<i>BRAF</i> analysis by fine needle aspiration biopsy of thyroid nodules improves preoperative identification of papillary thyroid carcinoma and represents a prognostic factor. A mono-institutional experience

Pelizzo, Maria Rosa; Boschin, Isabella Merante; Barollo, Susi; Pennelli, Gianmaria; Toniato, Antonio; Zambonin, Laura; Vianello, Federica; Piotto, Andrea; Ide, Eric Casal; Pagetta, Costantino; Sorgato, Nadia; Torresan, Francesca; Girelli, Maria Elisa; Nacamulli, Davide; Mantero, Franco; Mian, Caterina

doi:10.1515/cclm.2011.031

Cited by 49 publications

(33 citation statements)

References 19 publications

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“…A genetic approach to improve the pre-operative diagnostic accuracy is to identify a panel of mutations (BRAF and RAS mutations; RET/PTC and PAX8-PPARg chromosomal rearrangements). These typically mutually exclusive mutations occur in w70% of patients with PTC (37,38,39,40,41) and the most frequent alteration is somatic BRAF V600E mutation (45% of PTC). However, a negative test does not exclude the presence Figure 2 Decision tree.…”

Section: Discussionmentioning

confidence: 99%

MicroRNA expression profile helps to distinguish benign nodules from papillary thyroid carcinomas starting from cells of fine-needle aspiration

Agretti¹,

Ferrarini²,

Rago³

et al. 2012

European Journal of Endocrinology

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Objective: MicroRNAs (miRNAs) are small endogenous noncoding RNAs that pair with target messengers regulating gene expression. Changes in miRNA levels occur in thyroid cancer. Fine-needle aspiration (FNA) with cytological evaluation is the most reliable tool for malignancy prediction in thyroid nodules, but cytological diagnosis remains undetermined for 20% of nodules. Design: In this study, we evaluated the expression of seven miRNAs in benign nodules, papillary thyroid carcinomas (PTCs), and undetermined nodules at FNA. Methods: The prospective study included 141 samples obtained by FNA of thyroid nodules from 138 patients. miRNA expression was evaluated by quantitative RT-PCR and statistical analysis of data was performed. Genetic analysis of codon 600 of BRAF gene was also performed. Results: Using data mining techniques, we obtained a criterion to classify a nodule as benign or malignant on the basis of miRNA expression. The decision model based on the expression of miR-146b, miR-155, and miR-221 was valid for 86/88 nodules with determined cytology (97.73%), and adopting cross-validation techniques we obtained a reliability of 78.41%. The prediction was valid for 31/53 undetermined nodules with 16 false-positive and six false-negative predictions. The mutated form V600E of BRAF gene was demonstrated in 19/43 PTCs and in 1/53 undetermined nodules. Conclusions: The expression profiles of three miRNAs allowed us to distinguish benign from PTC starting from FNA. When the assay was applied to discriminate thyroid nodules with undetermined cytology, a low sensitivity and specificity despite the low number of false-negative predictions was obtained, limiting the practical interest of the method.

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Section: Discussionmentioning

confidence: 99%

MicroRNA expression profile helps to distinguish benign nodules from papillary thyroid carcinomas starting from cells of fine-needle aspiration

Agretti¹,

Ferrarini²,

Rago³

et al. 2012

European Journal of Endocrinology

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“…Recently, several studies have been published on the feasibility of successfully testing for BRAF mutations using cytologic materials. 7,9,[14][15][16][17][18][19][20] It has been shown that detection of BRAF mutations can be helpful in facilitating accurate diagnosis in thyroid FNA cytology. 5,13 A successful cytologic diagnosis relies on adequate sample with good cellularity.…”

Section: Discussionmentioning

confidence: 99%

Assessment of cellularity, genomic DNA yields, and technical platforms for BRAF mutational testing in thyroid fine‐needle aspirate samples

Dyhdalo

MacNamara

Brainard

et al. 2013

Cancer Cytopathology

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BACKGROUND: BRAF mutation V600E (substitution Val600Glu) is a molecular signature for papillary thyroid carcinoma (PTC). Testing for BRAF mutation is clinically useful in providing prognostic prediction and facilitating accurate diagnosis of PTC in thyroid fine-needle aspirate (FNA) samples. METHODS: This study assessed the correlation of cellularity with DNA yield and compared 2 technical platforms with different sensitivities in detection of BRAF mutation in cytologic specimens. Cellularity was evaluated based on groups of 101 cells on a ThinPrep slide: 11 (1-5 groups), 21 (6-10 groups), 31 (11-20 groups), and 41 (> 20 groups). Genomic DNA was extracted from residual materials of thyroid FNAs after cytologic diagnosis. RESULTS: Approximately 49% of thyroid FNA samples had low cellularity (1-21). DNA yield is proportionate with increased cellularity and increased nearly 4-fold from 11 to 41 cellularity in cytologic samples. When applied to BRAF mutational assay, using a cutoff of 6 groups of follicular cells with 101 cells per group, 96.7% of cases yielded enough DNA for at least one testing for BRAF mutation. Five specimens (11.6%) with lower cellularity did not yield sufficient DNA for duplicate testing. Comparison of Sanger sequencing to allele-specific polymerase chain reaction methods shows the latter confers better sensitivity in detection of BRAF mutation, especially in limited cytologic specimens with a lower percentage of malignant cells. CONCLUSIONS: This study demonstrates that by using 6 groups of 101 follicular cells as a cutoff, nearly 97% of thyroid FNA samples contain enough DNA for BRAF mutational assay. Careful selection of a molecular testing system with high sensitivity facilitates the successful conduction of molecular testing in limited cytologic specimens.

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“…HER-2 protein may also be measured in serum, but in contrast to the tumor HER-2 status, serum HER-2 determination has so far found little use in clinical practice [45,46] . Other important predictive biomarkers used in medical oncology recently identified, including the presence KRAS mutations in gastrointestinal carcinomas [47] , BRAF mutations [35,48] , and EGFR mutations in non-small cell lung cancer [34] , have been mentioned above. Complex assays utilizing multigene expression profiles, e.g., Oncotype Dx, that determine the expression of a panel of genes associated with tumor progression and metastases have been introduced into the clinical practice and are used in therapeutic decisions [9] .…”

Section: Tumor Markers -The Old and The Newmentioning

confidence: 99%

Laboratory medicine and medical oncology: the tale of two Cinderellas

Melichar

2012

Clinical Chemistry and Laboratory Medicine (CCLM)

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Cancer represents a leading cause of death in the developed countries. The past 50 years have witnessed major progress in both laboratory medicine and clinical oncology that has translated into improved prognosis of cancer patients. From the humble beginnings as unrelated specialties, major advances in the understanding of molecular bases of cancer progression led to increased interactions between laboratory medicine and clinical (mostly medical) oncology. Laboratory medicine is now an integral part of the management of cancer patients. The many aspects of the role of laboratory medicine in clinical oncology include the determination of biomarkers that are used in establishing the diagnosis, predicting response to therapy or prognosis, study of the host response to tumor growth, detection of treatment toxicity and determining the concentrations of anticancer drugs.

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BRAF analysis by fine needle aspiration biopsy of thyroid nodules improves preoperative identification of papillary thyroid carcinoma and represents a prognostic factor. A mono-institutional experience

Cited by 49 publications

References 19 publications

MicroRNA expression profile helps to distinguish benign nodules from papillary thyroid carcinomas starting from cells of fine-needle aspiration

MicroRNA expression profile helps to distinguish benign nodules from papillary thyroid carcinomas starting from cells of fine-needle aspiration

Assessment of cellularity, genomic DNA yields, and technical platforms for BRAF mutational testing in thyroid fine‐needle aspirate samples

Laboratory medicine and medical oncology: the tale of two Cinderellas

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