BRAF Mutations in an Italian Regional Population

Implications for the Therapy of Thyroid Cancer

Eleonora Monti, Michela Bovero, Lorenzo Mortara, Giorgia Pera, Simonetta Zupo, Elena Gugiatti, Mariella Dono, Barbara Massa, Gian Luca Ansaldo, Giusti Massimo

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Background. Molecular diagnostics has offered new techniques for searching for mutations in thyroid indeterminate lesions. The study's aim was to evaluate the BRAF mutations' incidence in an Italian regional population. Subjects and Methods. 70 Caucasian patients born in Liguria with indeterminate or suspicious cytological diagnoses. Results. A BRAF gene mutation was successfully analyzed in 56/70 patients. The mutation was BRAF V600E in 12/56 cases (21%) and BRAF K601E in 2/56 (4%). Of the BRAF mutated samples on cytological diagnosis (14/56 cases), 2/14 cases (14%) were benign on final histology and 12/14 (86%) were malignant. All BRAF-mutated cases on cytology that were found to be benign on histological examination carried the K601E mutation. Of the nonmutated BRAF cases (42/56, 75%) which were later found to be malignant on definitive histology, 5 cases were follicular carcinomas (36%), 3 cases were incidentally found to be papillary microcarcinomas (22%), 2 were cases papillary carcinomas (14%), 1 was case follicular variant of papillary carcinoma (7%), 1 was case medullary carcinoma (7%), 1 case was Hurtle cell tumor (7%), and 1 case was combined cell carcinoma and papillary oncocytic carcinoma (7%). Conclusions. The presence of the BRAF V600E mutation may suggest a more aggressive surgical approach. BRAF K601E mutation did not correlate with malignancy indexes.

Original languageEnglish
Article number138734
JournalInternational Journal of Endocrinology
Volume2015
DOIs
Publication statusPublished - 2015

Fingerprint

Thyroid Neoplasms
Mutation
Population
Papillary Carcinoma
Therapeutics
Histology
Carcinoma, Papillary, Follicular
Carcinoma
Medullary Carcinoma
Molecular Pathology
Cell Biology
Neoplasms
Thyroid Gland
Incidence
Genes

ASJC Scopus subject areas

  • Endocrine and Autonomic Systems
  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

Cite this

BRAF Mutations in an Italian Regional Population : Implications for the Therapy of Thyroid Cancer. / Monti, Eleonora; Bovero, Michela; Mortara, Lorenzo; Pera, Giorgia; Zupo, Simonetta; Gugiatti, Elena; Dono, Mariella; Massa, Barbara; Ansaldo, Gian Luca; Massimo, Giusti.

In: International Journal of Endocrinology, Vol. 2015, 138734, 2015.

Research output: Contribution to journalArticle

Monti, E, Bovero, M, Mortara, L, Pera, G, Zupo, S, Gugiatti, E, Dono, M, Massa, B, Ansaldo, GL & Massimo, G 2015, 'BRAF Mutations in an Italian Regional Population: Implications for the Therapy of Thyroid Cancer', International Journal of Endocrinology, vol. 2015, 138734. https://doi.org/10.1155/2015/138734
Monti, Eleonora ; Bovero, Michela ; Mortara, Lorenzo ; Pera, Giorgia ; Zupo, Simonetta ; Gugiatti, Elena ; Dono, Mariella ; Massa, Barbara ; Ansaldo, Gian Luca ; Massimo, Giusti. / BRAF Mutations in an Italian Regional Population : Implications for the Therapy of Thyroid Cancer. In: International Journal of Endocrinology. 2015 ; Vol. 2015.
@article{0d45906ec17243cba4211b485bf87d40,
title = "BRAF Mutations in an Italian Regional Population: Implications for the Therapy of Thyroid Cancer",
abstract = "Background. Molecular diagnostics has offered new techniques for searching for mutations in thyroid indeterminate lesions. The study's aim was to evaluate the BRAF mutations' incidence in an Italian regional population. Subjects and Methods. 70 Caucasian patients born in Liguria with indeterminate or suspicious cytological diagnoses. Results. A BRAF gene mutation was successfully analyzed in 56/70 patients. The mutation was BRAF V600E in 12/56 cases (21{\%}) and BRAF K601E in 2/56 (4{\%}). Of the BRAF mutated samples on cytological diagnosis (14/56 cases), 2/14 cases (14{\%}) were benign on final histology and 12/14 (86{\%}) were malignant. All BRAF-mutated cases on cytology that were found to be benign on histological examination carried the K601E mutation. Of the nonmutated BRAF cases (42/56, 75{\%}) which were later found to be malignant on definitive histology, 5 cases were follicular carcinomas (36{\%}), 3 cases were incidentally found to be papillary microcarcinomas (22{\%}), 2 were cases papillary carcinomas (14{\%}), 1 was case follicular variant of papillary carcinoma (7{\%}), 1 was case medullary carcinoma (7{\%}), 1 case was Hurtle cell tumor (7{\%}), and 1 case was combined cell carcinoma and papillary oncocytic carcinoma (7{\%}). Conclusions. The presence of the BRAF V600E mutation may suggest a more aggressive surgical approach. BRAF K601E mutation did not correlate with malignancy indexes.",
author = "Eleonora Monti and Michela Bovero and Lorenzo Mortara and Giorgia Pera and Simonetta Zupo and Elena Gugiatti and Mariella Dono and Barbara Massa and Ansaldo, {Gian Luca} and Giusti Massimo",
year = "2015",
doi = "10.1155/2015/138734",
language = "English",
volume = "2015",
journal = "International Journal of Endocrinology",
issn = "1687-8337",
publisher = "Hindawi Publishing Corporation",

}

TY - JOUR

T1 - BRAF Mutations in an Italian Regional Population

T2 - Implications for the Therapy of Thyroid Cancer

AU - Monti, Eleonora

AU - Bovero, Michela

AU - Mortara, Lorenzo

AU - Pera, Giorgia

AU - Zupo, Simonetta

AU - Gugiatti, Elena

AU - Dono, Mariella

AU - Massa, Barbara

AU - Ansaldo, Gian Luca

AU - Massimo, Giusti

PY - 2015

Y1 - 2015

N2 - Background. Molecular diagnostics has offered new techniques for searching for mutations in thyroid indeterminate lesions. The study's aim was to evaluate the BRAF mutations' incidence in an Italian regional population. Subjects and Methods. 70 Caucasian patients born in Liguria with indeterminate or suspicious cytological diagnoses. Results. A BRAF gene mutation was successfully analyzed in 56/70 patients. The mutation was BRAF V600E in 12/56 cases (21%) and BRAF K601E in 2/56 (4%). Of the BRAF mutated samples on cytological diagnosis (14/56 cases), 2/14 cases (14%) were benign on final histology and 12/14 (86%) were malignant. All BRAF-mutated cases on cytology that were found to be benign on histological examination carried the K601E mutation. Of the nonmutated BRAF cases (42/56, 75%) which were later found to be malignant on definitive histology, 5 cases were follicular carcinomas (36%), 3 cases were incidentally found to be papillary microcarcinomas (22%), 2 were cases papillary carcinomas (14%), 1 was case follicular variant of papillary carcinoma (7%), 1 was case medullary carcinoma (7%), 1 case was Hurtle cell tumor (7%), and 1 case was combined cell carcinoma and papillary oncocytic carcinoma (7%). Conclusions. The presence of the BRAF V600E mutation may suggest a more aggressive surgical approach. BRAF K601E mutation did not correlate with malignancy indexes.

AB - Background. Molecular diagnostics has offered new techniques for searching for mutations in thyroid indeterminate lesions. The study's aim was to evaluate the BRAF mutations' incidence in an Italian regional population. Subjects and Methods. 70 Caucasian patients born in Liguria with indeterminate or suspicious cytological diagnoses. Results. A BRAF gene mutation was successfully analyzed in 56/70 patients. The mutation was BRAF V600E in 12/56 cases (21%) and BRAF K601E in 2/56 (4%). Of the BRAF mutated samples on cytological diagnosis (14/56 cases), 2/14 cases (14%) were benign on final histology and 12/14 (86%) were malignant. All BRAF-mutated cases on cytology that were found to be benign on histological examination carried the K601E mutation. Of the nonmutated BRAF cases (42/56, 75%) which were later found to be malignant on definitive histology, 5 cases were follicular carcinomas (36%), 3 cases were incidentally found to be papillary microcarcinomas (22%), 2 were cases papillary carcinomas (14%), 1 was case follicular variant of papillary carcinoma (7%), 1 was case medullary carcinoma (7%), 1 case was Hurtle cell tumor (7%), and 1 case was combined cell carcinoma and papillary oncocytic carcinoma (7%). Conclusions. The presence of the BRAF V600E mutation may suggest a more aggressive surgical approach. BRAF K601E mutation did not correlate with malignancy indexes.

UR - http://www.scopus.com/inward/record.url?scp=84949293882&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84949293882&partnerID=8YFLogxK

U2 - 10.1155/2015/138734

DO - 10.1155/2015/138734

M3 - Article

VL - 2015

JO - International Journal of Endocrinology

JF - International Journal of Endocrinology

SN - 1687-8337

M1 - 138734

ER -