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Relevance of BRAF(V600E) mutation testing versus RAS point mutations and RET/PTC rearrangements evaluation in the diagnosis of thyroid cancer.
Thyroid 2015; 25(2):221-8T

Abstract

BACKGROUND

A molecular profile including BRAF and RAS mutations as well as RET/PTC rearrangement evaluation has been proposed to provide an accurate presurgical assessment of thyroid nodules and to reduce the number of unnecessary diagnostic surgeries, sparing patients' health and saving healthcare resources. However, the application of such molecular analyses may provide different results among different centers and populations in real-life settings. Our aims were to evaluate the diagnostic utility of assessing the presence of BRAF and RAS mutations and RET/PTC1 and RET/PTC3 rearrangements in all cytological categories in an Italian group of thyroid nodule patients assessed prospectively, and to understand whether and which mutation testing might be helpful in cytologically indeterminate nodules.

METHODS

A total of 911 patients were submitted to ultrasound and fine-needle aspiration biopsy examination. Cytological evaluation was performed in parallel with molecular testing and compared to pathological results in 940 thyroid nodules, including 140 indeterminate lesions.

RESULTS

BRAF mutation testing provided the best contribution to cancer diagnosis, allowing the disease to be detected at an early stage, and identifying indeterminate nodules in which diagnostic lobectomy could be spared. On the contrary, RAS and RET/PTC analysis did not further increase diagnostic sensitivity for thyroid cancer. In addition, we found RET/PTC rearrangements in benign lesions, indicating that this molecular marker might not be useful for the detection of thyroid cancer.

CONCLUSION

BRAF(V600E) mutation analysis is superior to RAS point mutations and evaluation of RET/PTC rearrangements in the diagnosis of thyroid cancer, even in indeterminate lesions.

Authors+Show Affiliations

1 Section of Endocrinology and Internal Medicine, Department of Medical Sciences, University of Ferrara, Ferrara, Italy .No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

25333496

Citation

Rossi, Martina, et al. "Relevance of BRAF(V600E) Mutation Testing Versus RAS Point Mutations and RET/PTC Rearrangements Evaluation in the Diagnosis of Thyroid Cancer." Thyroid : Official Journal of the American Thyroid Association, vol. 25, no. 2, 2015, pp. 221-8.
Rossi M, Buratto M, Tagliati F, et al. Relevance of BRAF(V600E) mutation testing versus RAS point mutations and RET/PTC rearrangements evaluation in the diagnosis of thyroid cancer. Thyroid. 2015;25(2):221-8.
Rossi, M., Buratto, M., Tagliati, F., Rossi, R., Lupo, S., Trasforini, G., ... Zatelli, M. C. (2015). Relevance of BRAF(V600E) mutation testing versus RAS point mutations and RET/PTC rearrangements evaluation in the diagnosis of thyroid cancer. Thyroid : Official Journal of the American Thyroid Association, 25(2), pp. 221-8. doi:10.1089/thy.2014.0338.
Rossi M, et al. Relevance of BRAF(V600E) Mutation Testing Versus RAS Point Mutations and RET/PTC Rearrangements Evaluation in the Diagnosis of Thyroid Cancer. Thyroid. 2015;25(2):221-8. PubMed PMID: 25333496.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Relevance of BRAF(V600E) mutation testing versus RAS point mutations and RET/PTC rearrangements evaluation in the diagnosis of thyroid cancer. AU - Rossi,Martina, AU - Buratto,Mattia, AU - Tagliati,Federico, AU - Rossi,Roberta, AU - Lupo,Sabrina, AU - Trasforini,Giorgio, AU - Lanza,Giovanni, AU - Franceschetti,Paola, AU - Bruni,Stefania, AU - Degli Uberti,Ettore, AU - Zatelli,Maria Chiara, Y1 - 2014/11/24/ PY - 2014/10/22/entrez PY - 2014/10/22/pubmed PY - 2015/11/6/medline SP - 221 EP - 8 JF - Thyroid : official journal of the American Thyroid Association JO - Thyroid VL - 25 IS - 2 N2 - BACKGROUND: A molecular profile including BRAF and RAS mutations as well as RET/PTC rearrangement evaluation has been proposed to provide an accurate presurgical assessment of thyroid nodules and to reduce the number of unnecessary diagnostic surgeries, sparing patients' health and saving healthcare resources. However, the application of such molecular analyses may provide different results among different centers and populations in real-life settings. Our aims were to evaluate the diagnostic utility of assessing the presence of BRAF and RAS mutations and RET/PTC1 and RET/PTC3 rearrangements in all cytological categories in an Italian group of thyroid nodule patients assessed prospectively, and to understand whether and which mutation testing might be helpful in cytologically indeterminate nodules. METHODS: A total of 911 patients were submitted to ultrasound and fine-needle aspiration biopsy examination. Cytological evaluation was performed in parallel with molecular testing and compared to pathological results in 940 thyroid nodules, including 140 indeterminate lesions. RESULTS: BRAF mutation testing provided the best contribution to cancer diagnosis, allowing the disease to be detected at an early stage, and identifying indeterminate nodules in which diagnostic lobectomy could be spared. On the contrary, RAS and RET/PTC analysis did not further increase diagnostic sensitivity for thyroid cancer. In addition, we found RET/PTC rearrangements in benign lesions, indicating that this molecular marker might not be useful for the detection of thyroid cancer. CONCLUSION: BRAF(V600E) mutation analysis is superior to RAS point mutations and evaluation of RET/PTC rearrangements in the diagnosis of thyroid cancer, even in indeterminate lesions. SN - 1557-9077 UR - https://www.unboundmedicine.com/medline/citation/25333496/Relevance_of_BRAF_V600E__mutation_testing_versus_RAS_point_mutations_and_RET/PTC_rearrangements_evaluation_in_the_diagnosis_of_thyroid_cancer_ L2 - https://www.liebertpub.com/doi/full/10.1089/thy.2014.0338?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -