BRAF mutations in thyroid cancer

Scheffel, Rafael Selbach; Dora, José Miguel Silva; Maia, Ana Luiza Silva

doi:10.1097/cco.0000000000000797

Cited by 38 publications

(34 citation statements)

References 29 publications

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“…It has been reported that ATC patients with a BRAF mutation have shown exceptional response on combination therapy with BRAF inhibitor (Dabrafenib) and mitogen activated protein kinase inhibitor (Trametinib). 16 It is also intriguing to see the promising checkpointinhibitor PD-L1 treatment response for anaplastic carcinoma with osteoclast-like giant cells in other organ sites. [17][18][19][20] In recent era, documenting tumor genetic alterations has become crucial for selecting novel targeted therapies.…”

Section: Discussionmentioning

confidence: 99%

A case of osteoclastic variant of anaplastic thyroid carcinoma: Diagnostic and prognostic marker studies by cytology

Bantumilli

Zhu

Sakthivel

et al. 2022

Diagnostic Cytopathology

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Anaplastic thyroid carcinoma is an infrequent, but aggressive fatal subtype of thyroid cancer. The osteoclastic variant of anaplastic carcinoma is a rare subtype of anaplastic carcinoma with rare cases reported in the literature. Molecular targeted therapies have emerged for the anaplastic carcinoma, necessitating accurate pathologic diagnosis with additional ancillary testing for directing clinical management. We present here the cytological diagnosis of an anaplastic thyroid carcinoma-osteoclastic variant on fine-needle aspiration (FNA), with emphasis on the novelty of utilizing the least invasive procedure (aspiration cytology) for rendering pathological diagnosis as well as identifying potential prognostic markers for targeted immunotherapy.anaplastic carcinoma, cytology diagnosis of thyroid carcinoma, osteoclastic variant, osteoclastlike giant cells, PD-L1 in thyroid carcinoma | INTRODUCTIONAnaplastic (undifferentiated) thyroid carcinoma (ATC) is a highly malignant tumor, accounting 2%-5% of all thyroid malignancies. 1The tumor mostly presents in elderly women with a rapidly enlarging neck mass and extrathyroidal extension present in most cases.Many subtypes of anaplastic carcinoma have been reported including spindle cell/sarcomatoid, squamous, pleomorphic, angiomatoid, rhabdoid, paucicellular, as well as osteoclastic variants. 2,3 Large numbers of multinucleated, non-neoplastic, osteoclast-like giant cells intermingled with a high-grade malignant cell population characterizes the osteoclastic variant of ATC. ATC has a grave overall prognosis with a poor response to multimodality therapy. However, recent advances in genomic mutational studies suggest that this tumor may respond to targeted therapies including multikinasetargeted inhibitors on BRAF mutation and PD-L1 expression. 4 We hereby report a case of osteoclastic variant of ATC, diagnosed by fine-needle aspiration (FNA) including molecular marker studies using cytology material. | CASE REPORTAn 81-year-old female patient was referred for the evaluation of a left neck mass with complaints of difficulty in throat clearing, hoarseness, and weight loss. She denied other symptoms like dysphagia or dyspnea. The computed tomogram (CT) of neck demonstrated a large 6.7 Â 4.6 Â 4.0 cm heterogeneous multi-lobated tumor appearing at the superior left thyroid displacing the hypopharynx and larynx, laterally on neck vasculature with narrowing, invasion, and tumor thrombus in the left internal jugular vein. The FDG PET/CT showed an intensely avid left neck mass with innumerable cervical lymph node metastasis and multifocal bilateral intensely avid metastatic pulmonary nodules (Figure 1). FNA was performed on the neck mass. Air-dried smears, alcoholfixed smears, and cellblock cytology slides were prepared and stained by Diff-Quik, Pap, and Hematoxylin & Eosin methods, respectively. Surekha Bantumilli and Lee-Ching Zhu contributed equally to this work.

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Section: Discussionmentioning

confidence: 99%

A case of osteoclastic variant of anaplastic thyroid carcinoma: Diagnostic and prognostic marker studies by cytology

Bantumilli

Zhu

Sakthivel

et al. 2022

Diagnostic Cytopathology

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“…• Patients with very low risk of recurrence (< 1%, unifocal, tumor size < 1 cm if PTC), • Patients with PTC with intrathyroidal tumors < 4 cm, without clinical evidence of lymph node metastases or with ≤ 5 microscopic (< 2 mm) lymph node metastases on histology, without vascular invasion, and without an aggressive variant of PTC, and • Patients with well-differentiated follicular thyroid cancer with capsular invasion alone or with less than four foci of vascular invasion. Molecular characterization of the tumor has not been adopted routinely yet, and the impact of BRAF or other (e.g., TERT) mutations on risk assessment is still a matter of debate (13,14).…”

Section: Assessing Disease Persistence/recurrencementioning

confidence: 99%

Treatment strategies for low-risk papillary thyroid carcinoma: a position statement from the Thyroid Department of the Brazilian Society of Endocrinology and Metabolism (SBEM)

Ward¹,

Scheffel²,

Hoff³

et al. 2022

Archives of Endocrinology and Metabolism

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Increasingly sensitive diagnostic methods, better understanding of molecular pathophysiology, and well-conducted prospective studies have changed the current approach to patients with thyroid cancer, requiring the implementation of individualized management. Most patients with papillary thyroid carcinoma (PTC) are currently considered to have a low risk of mortality and disease persistence/recurrence. Consequently, current treatment recommendations for these patients include less invasive or intensive therapies. We used the most recent evidence to prepare a position statement providing guidance for decisions regarding the management of patients with low-risk PTC (LRPTC). This document summarizes the criteria defining LRPTC (including considerations regarding changes in the TNM staging system), indications and contraindications for active surveillance, and recommendations for follow-up and surgery. Active surveillance may be an appropriate initial choice in selected patients, and the criteria to recommend this approach are detailed. A section is dedicated to the current evidence regarding lobectomy versus total thyroidectomy and the potential pitfalls of each approach, considering the challenges during long-term follow-up. Indications for radioiodine (RAI) therapy are also addressed, along with the benefits and risks associated with this treatment, patient preparation, and dosage. Finally, this statement presents the best follow-up strategies for LRPTC after lobectomy and total thyroidectomy with or without RAI.

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“…Consecutive patients who underwent initial thyroid surgery at our institution between July 2019 and March 2022 were retrospectively reviewed. Exclusion criteria were as follows: (1)…”

Section: Study Populationmentioning

confidence: 99%

“…Thyroid papillary carcinoma (PTC), the most common histological type of thyroid cancer, has been increasing rapidly ( 1 ). The incidence of lymph node metastasis (LNM) is high, ranging from 49% to 90% ( 2 , 3 ).…”

Section: Introductionmentioning

confidence: 99%

LASSO-based machine learning models for the prediction of central lymph node metastasis in clinically negative patients with papillary thyroid carcinoma

Feng

et al. 2022

Front. Endocrinol.

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BackgroundThe presence of central lymph node metastasis (CLNM) is crucial for surgical decision-making in clinical N0 (cN0) papillary thyroid carcinoma (PTC) patients. We aimed to develop and validate machine learning (ML) algorithms-based models for predicting the risk of CLNM in cN0 patients.MethodsA total of 1099 PTC patients with cN0 central neck from July 2019 to March 2022 at our institution were retrospectively analyzed. All patients were randomly split into the training dataset (70%) and the validation dataset (30%). Eight ML algorithms, including the Logistic Regression, Gradient Boosting Machine, Extreme Gradient Boosting (XGB), Random Forest (RF), Decision Tree, Neural Network, Support Vector Machine and Bayesian Network were used to evaluate the risk of CLNM. The performance of ML models was evaluated by the area under curve (AUC), sensitivity, specificity, and decision curve analysis (DCA).ResultsWe firstly used the LASSO Logistic regression method to select the most relevant factors for predicting CLNM. The AUC of XGB was slightly higher than RF (0.907 and 0.902, respectively). According to DCA, RF model significantly outperformed XGB model at most threshold points and was therefore used to develop the predictive model. The diagnostic performance of RF algorithm was dependent on the following nine top-rank variables: size, margin, extrathyroidal extension, sex, echogenic foci, shape, number, lateral lymph node metastasis and chronic lymphocytic thyroiditis.ConclusionBy incorporating clinicopathological and sonographic characteristics, we developed ML-based models, suggesting that this non-invasive method can be applied to facilitate individualized prediction of occult CLNM in cN0 central neck PTC patients.

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BRAF mutations in thyroid cancer

Cited by 38 publications

References 29 publications

A case of osteoclastic variant of anaplastic thyroid carcinoma: Diagnostic and prognostic marker studies by cytology

A case of osteoclastic variant of anaplastic thyroid carcinoma: Diagnostic and prognostic marker studies by cytology

Treatment strategies for low-risk papillary thyroid carcinoma: a position statement from the Thyroid Department of the Brazilian Society of Endocrinology and Metabolism (SBEM)

LASSO-based machine learning models for the prediction of central lymph node metastasis in clinically negative patients with papillary thyroid carcinoma

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