BRAF mutation status in papillary thyroid carcinoma: significance for surgical strategy

Miccoli, Paolo; Basolo, Fulvio

doi:10.1007/s00423-013-1153-7

Cited by 13 publications

(13 citation statements)

References 17 publications

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“…Most of the recent attention toward molecular marker therapy guidance has been focused on the BRAF mutant V600E, given its high incidence and correlation with aggressive disease and with the potential to predict response to I-131 therapy. 38,39 Improved diagnostics are another way that molecular markers can aid in patient care, particularly with the amenability of molecular techniques to fine-needle aspiration specimens. This has been examined as a useful application in the fineneedle aspiration of pediatric thyroid nodules.…”

Section: Commentmentioning

confidence: 99%

Mutation in BRAF and Other Members of the MAPK Pathway in Papillary Thyroid Carcinoma in the Pediatric Population

Gertz

Nikiforov

Rehrauer

et al. 2016

Archives of Pathology &Amp; Laboratory Medicine

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Context.-Papillary thyroid carcinoma (PTC) is an uncommon tumor in the pediatric population. A limited number of studies have examined genetic mutations affecting the mitogen-activated protein kinase (MAPK) pathway in the pediatric population.Objective.-To examine mutations affecting this pathway in PTC in our pediatric population and compare the BRAF V600E mutation rates in pediatric and adult tumors.Design.-Eighty-four patients, including 14 pediatric and 70 adult, with PTC were tested for the BRAF V600E mutation by using real-time polymerase chain reaction and sequencing. Additionally, we examined the rate of RAS point mutations with real-time polymerase chain reaction and rearrangements of RET/PTC1 and RET/PTC3 in the pediatric group with fluorescence in situ hybridization. Clinical and histologic data were compared as well.Results.-Of 77 tumors that had an interpretable result, the BRAF V600E mutant was identified in 4 of 13 pediatric patients (31%) and 43 of 64 adult patients (67%), which was a significant difference (using Fisher exact test, P ¼ .03). One pediatric and 6 adult cases did not reveal an interpretable result with melting curve analysis. One of these cases harbored a rare 3-base pair deletion mutation (c.1799_1801delTGA). Mutations in RAS genes were not seen in any pediatric tumors. One tumor with a RET/PTC1 rearrangement and another with RET/PTC3 were identified in the pediatric population (15%).Conclusions.-The rate of the BRAF V600E mutation in the pediatric population is significantly lower than that seen in the adult population. Mutations in RAS do not contribute significantly to pediatric PTC. This experience from our institution adds to the growing body of knowledge regarding tumor genetics in pediatric PTC.(Arch Pathol Lab Med. 2016;140:134-139; doi: 10.5858/ arpa.2014-0612-OA) P apillary thyroid carcinoma (PTC) is an uncommon tumor in the pediatric population. Despite having an excellent prognosis with long-term mortality rates of less than 1%, 1,2 pediatric patients with PTC tend to present with advanced disease often with increased rates of extrathyroidal tumor extension, lymphovascular invasion, and distant metastases. 1,3-5The distinct clinical nature of papillary thyroid cancer in the pediatric population has prompted interest in the molecular tumorigenesis. The mitogen-activated protein kinase (MAPK) pathway includes components of particular interest, including BRAF, RAS, and RET. Between 37% and 52% of PTCs have been linked to the specific BRAF mutation V600E, and clinical correlations support that this foretells a more aggressive disease course in adults. [6][7][8][9] The incidence of this BRAF mutation in the pediatric population is thought to be lower than in adults with rates of 0% to 37%, 10-15 though 1 recent series 16 revealed a rate of 63%. The rearrangement mutations of RET are also considered a major contributor to PTC tumorigenesis, but rates of this mutation have fluctuated widely in reported series.17 RET/PTC rearrangements have been associated with young age 18 an...

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Section: Commentmentioning

confidence: 99%

Mutation in BRAF and Other Members of the MAPK Pathway in Papillary Thyroid Carcinoma in the Pediatric Population

Gertz

Nikiforov

Rehrauer

et al. 2016

Archives of Pathology &Amp; Laboratory Medicine

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“…Li et al [11,41] reported a close association of BRAF V600E mutation with extracapsular infiltration of PTC, lymph node metastasis, and high TNM stage of tumor, and a subsequent higher capsular invasion rate [42]. BRAF V600E-variant PTC was found to have a greater risk of invasion, to invade the tissues surrounding the thyroid gland, and to often present in an advanced clinical stage [41,43] and exhibit a worse prognosis [43,44]. In conclusion, age <45, microcalcification, and irregular morphology have all been associated with CLNM and PTMC, with above features requiring thyroidectomy/total thyroidectomy + central lymph node dissection; meanwhile age, gender, multifocality, the anteroposterior diameter ≥ 0.7 cm, nodule site, microcalcification and gene positivity have been found to be risk factors for LLNM.…”

Section: Correlation Between Lymph Node Metastasis Of Ptmc Ultrasonomentioning

confidence: 99%

Application of Ultrasonography in the Diagnosis and Management of Papillary Thyroid Microcarcinoma

Huang¹,

Liu²

2020

Advanced Ultrasound in Diagnosis and Therapy

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Thyroid carcinoma is the most common malignant tumor of the endocrine system. Nearly 90% of thyroid carcinomas are papillary type, of which many are thyroid papillary microcarcinoma (PTMC) with a maximum diameter≤1 cm. Highresolution ultrasound imaging plays an important role in evaluating PTMC and guiding biopsy for pathology as well as appropriate treatment. This review paper discusses the ultrasonography features of PTMC and explores the clinical value of ultrasonography with gene testing in the diagnosis and management of PTMC.

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“…BRAF gene status is well known as an important factor influencing some parameters of tumors invasiveness, but only few of these parameters could imply a significant change in the surgical strategy: the most often involved ones seem to be the capsule invasion, the multifocality and the lymph node involvement (7,8). More recently other mutations and gene expression profiles (9,10) have been recognized as possible factors influencing the prognosis of PTC: the aim of the paper is to revise all these parameters aiming to find a correlation between their prognostic influence and the choice of a more personalized surgical strategy.…”

Section: Risk Stratification Of Patients Based On Molecular Markersmentioning

confidence: 99%

Tailored surgery according to molecular analysis in differentiated thyroid carcinomas

Miccoli¹,

Materazzi²,

Macerola³

et al. 2018

Gland Surg.

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Papillary thyroid carcinoma (PTC) is an often indolent disease implying a long survival and in most of the cases an excellent prognosis, but there is still a limited percentage of cases where, in spite of their pre-operative conventional staging, these tumors could better be treated through a more selective surgical approach. Small PTC in fact are generally considered as "low risk" tumors but using simply a TNM classification might lead to a limited surgery such as unilateral hemithyroidectomy, in particular according to the most recent guidelines of the American Thyroid Association. On the other hand though, an absence of the mutation could allow simplifying the follow-up of these patients, for example avoiding unnecessary radioactivated iodine therapy after surgery or even limiting to a unilateral thyroidectomy the operative procedure for these cases. Molecular testing has a peculiar interest for surgeons in two different ways: (I) with respect to diagnosis, in order to reduce the number of indeterminate citologies; (II) with respect to prognosis after both cytology and histology, in order to improve risk stratification and help the surgeon in developing a tailored surgical therapy. The aim of this review is the second issue: how to implement the concept of a tailored surgery according to molecular analysis in differentiated thyroid carcinomas (DTC).

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BRAF mutation status in papillary thyroid carcinoma: significance for surgical strategy

Cited by 13 publications

References 17 publications

Mutation in BRAF and Other Members of the MAPK Pathway in Papillary Thyroid Carcinoma in the Pediatric Population

Mutation in BRAF and Other Members of the MAPK Pathway in Papillary Thyroid Carcinoma in the Pediatric Population

Application of Ultrasonography in the Diagnosis and Management of Papillary Thyroid Microcarcinoma

Tailored surgery according to molecular analysis in differentiated thyroid carcinomas

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