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The BRAF(V600E) mutation is an independent, poor prognostic factor for the outcome of patients with low-risk intrathyroid papillary thyroid carcinoma: single-institution results from a large cohort study.
J Clin Endocrinol Metab. 2012 Dec; 97(12):4390-8.JC

Abstract

BACKGROUND

The BRAF(V600E) mutation, the most frequent genetic alteration in papillary thyroid carcinoma (PTC), was demonstrated to be a poor prognostic factor. The aim of this study was to evaluate its prognostic significance in a large cohort of low-risk intrathyroid PTC.

METHODS

Among the 431 consecutive PTC patients, we selected 319 patients with an intrathyroid tumor and no metastases (T1-T2, N0, M0). The BRAF(V600E) mutation was analyzed by PCR-single-strand conformation polymorphism analysis and direct genomic sequencing. The correlation between the presence/absence of the mutation, the clinical-pathological features, and the outcome of the PTC patients was investigated.

RESULTS

The BRAF(V600E) mutation was present in 106 of 319 PTC patients (33.2%). Its prevalence was also the same in subgroups identified according to the level of risk. The BRAF(V600E) mutation correlated with multifocality, aggressive variant, absence, or infiltration of the tumoral capsule. BRAF(V600E)-mutated PTC also required a higher number of radioiodine courses to obtain disease-free status. The BRAF(V600E) mutation was the only prognostic factor predicting the persistence of the disease in these patients after 5 yr of follow-up.

CONCLUSIONS

The BRAF(V600E) mutation was demonstrated to be a poor prognostic factor for the persistence of the disease independent from other clinical-pathological features in low-risk intrathyroid PTC patients. It could be useful to search for the BRAF(V600E) mutation in the workup of low-risk PTC patients to distinguish those who require less or more aggressive treatments. In particular, the high negative predictive value of the BRAF(V600E) mutation could be useful to identify, among low-risk PTC patients, those who could avoid 131-I treatment.

Authors+Show Affiliations

Department of Endocrinology and Metabolism, University of Pisa, Pisa, Italy. relisei@endoc.med.unipi.itNo 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 availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

23066120

Citation

Elisei, Rossella, et al. "The BRAF(V600E) Mutation Is an Independent, Poor Prognostic Factor for the Outcome of Patients With Low-risk Intrathyroid Papillary Thyroid Carcinoma: Single-institution Results From a Large Cohort Study." The Journal of Clinical Endocrinology and Metabolism, vol. 97, no. 12, 2012, pp. 4390-8.
Elisei R, Viola D, Torregrossa L, et al. The BRAF(V600E) mutation is an independent, poor prognostic factor for the outcome of patients with low-risk intrathyroid papillary thyroid carcinoma: single-institution results from a large cohort study. J Clin Endocrinol Metab. 2012;97(12):4390-8.
Elisei, R., Viola, D., Torregrossa, L., Giannini, R., Romei, C., Ugolini, C., Molinaro, E., Agate, L., Biagini, A., Lupi, C., Valerio, L., Materazzi, G., Miccoli, P., Piaggi, P., Pinchera, A., Vitti, P., & Basolo, F. (2012). The BRAF(V600E) mutation is an independent, poor prognostic factor for the outcome of patients with low-risk intrathyroid papillary thyroid carcinoma: single-institution results from a large cohort study. The Journal of Clinical Endocrinology and Metabolism, 97(12), 4390-8. https://doi.org/10.1210/jc.2012-1775
Elisei R, et al. The BRAF(V600E) Mutation Is an Independent, Poor Prognostic Factor for the Outcome of Patients With Low-risk Intrathyroid Papillary Thyroid Carcinoma: Single-institution Results From a Large Cohort Study. J Clin Endocrinol Metab. 2012;97(12):4390-8. PubMed PMID: 23066120.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The BRAF(V600E) mutation is an independent, poor prognostic factor for the outcome of patients with low-risk intrathyroid papillary thyroid carcinoma: single-institution results from a large cohort study. AU - Elisei,Rossella, AU - Viola,David, AU - Torregrossa,Liborio, AU - Giannini,Riccardo, AU - Romei,Cristina, AU - Ugolini,Clara, AU - Molinaro,Eleonora, AU - Agate,Laura, AU - Biagini,Agnese, AU - Lupi,Cristiana, AU - Valerio,Laura, AU - Materazzi,Gabriele, AU - Miccoli,Paolo, AU - Piaggi,Paolo, AU - Pinchera,Aldo, AU - Vitti,Paolo, AU - Basolo,Fulvio, Y1 - 2012/10/12/ PY - 2012/10/16/entrez PY - 2012/10/16/pubmed PY - 2013/2/13/medline SP - 4390 EP - 8 JF - The Journal of clinical endocrinology and metabolism JO - J. Clin. Endocrinol. Metab. VL - 97 IS - 12 N2 - BACKGROUND: The BRAF(V600E) mutation, the most frequent genetic alteration in papillary thyroid carcinoma (PTC), was demonstrated to be a poor prognostic factor. The aim of this study was to evaluate its prognostic significance in a large cohort of low-risk intrathyroid PTC. METHODS: Among the 431 consecutive PTC patients, we selected 319 patients with an intrathyroid tumor and no metastases (T1-T2, N0, M0). The BRAF(V600E) mutation was analyzed by PCR-single-strand conformation polymorphism analysis and direct genomic sequencing. The correlation between the presence/absence of the mutation, the clinical-pathological features, and the outcome of the PTC patients was investigated. RESULTS: The BRAF(V600E) mutation was present in 106 of 319 PTC patients (33.2%). Its prevalence was also the same in subgroups identified according to the level of risk. The BRAF(V600E) mutation correlated with multifocality, aggressive variant, absence, or infiltration of the tumoral capsule. BRAF(V600E)-mutated PTC also required a higher number of radioiodine courses to obtain disease-free status. The BRAF(V600E) mutation was the only prognostic factor predicting the persistence of the disease in these patients after 5 yr of follow-up. CONCLUSIONS: The BRAF(V600E) mutation was demonstrated to be a poor prognostic factor for the persistence of the disease independent from other clinical-pathological features in low-risk intrathyroid PTC patients. It could be useful to search for the BRAF(V600E) mutation in the workup of low-risk PTC patients to distinguish those who require less or more aggressive treatments. In particular, the high negative predictive value of the BRAF(V600E) mutation could be useful to identify, among low-risk PTC patients, those who could avoid 131-I treatment. SN - 1945-7197 UR - https://www.unboundmedicine.com/medline/citation/23066120/The_BRAF_V600E__mutation_is_an_independent_poor_prognostic_factor_for_the_outcome_of_patients_with_low_risk_intrathyroid_papillary_thyroid_carcinoma:_single_institution_results_from_a_large_cohort_study_ L2 - https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.2012-1775 DB - PRIME DP - Unbound Medicine ER -