Molecular Profiling of Thyroid Nodules—Are These Findings Meaningful, or Merely Measurable?

Morris, Luc G.T.

doi:10.1001/jamaoto.2020.1851

Cited by 16 publications

(19 citation statements)

References 38 publications

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“…However, 14% were associated with BRAF-like mutations (12%) ( BRAF V600E , NTRK3 fusion, RET fusions and BRAF fusions) or high-risk mutations (2%) ( TERT promotor mutation & TP53 mutation) [ 53 ]. The data from the validation studies of the different molecular tests are showing that most of the ITNs after surgical resection are either benign, NIFTP or well-differentiated thyroid cancer with excellent prognoses [ 66 ]. There is a risk of having aggressive cancer in ITNs which is usually associated with the presence of aggressive mutations like BRAF-like mutations or high-risk mutations (e.g., TERT or TP53 ) [ 67 ].…”

Section: Clinical Utility and Our Group’s Experiencementioning

confidence: 99%

Molecular Testing for Thyroid Nodules: The Experience at McGill University Teaching Hospitals in Canada

Rajab

Payne

Forest

et al. 2022

Cancers

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In the past few decades, molecular characterization of thyroid cancer has made significant progress and is able to identify thyroid-cancer-related molecular markers that can then be applied clinically for improved decision making. The aim of this review is to provide a general overview about the molecular markers (mutations and alterations) of thyroid cancers, present several molecular tests, and discuss the clinical applications of identifying these markers supported by the clinical experience of several high-volume thyroid cancer specialists at the McGill university hospitals in Montreal, Canada. Our group experience showed that molecular testing can reclassify more than half of the patients with indeterminate thyroid nodules (Bethesda III and IV) into benign and spare these patients from unnecessary diagnostic surgery. Furthermore, it can help optimize the initial management in thyroid cancers with no evidence of high risk of recurrence of disease preoperatively. While routine molecular testing is not firmly established for thyroid FNA specimens that are suspicious or positive for malignancy (Bethesda V and VI), knowledge of a thyroid nodule’s molecular risk group profile in such cases, together with its clinical and radiologic features, can help select the optimal surgical options (lobectomy versus upfront total thyroidectomy and central neck dissection), as demonstrated by our studies.

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Section: Clinical Utility and Our Group’s Experiencementioning

confidence: 99%

Molecular Testing for Thyroid Nodules: The Experience at McGill University Teaching Hospitals in Canada

Rajab

Payne

Forest

et al. 2022

Cancers

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“…A drawback of this rapidly evolving environment is that commercially available molecular tests for the evaluation of thyroid nodules lack proper independent clinical validation studies, have insufficient long-term follow-up data and have elevated costs. 11 Despite these caveats, professional association guidelines have endorsed the use of molecular marker testing for the evaluation of cytologically indeterminate thyroid nodules. 4,5,12,13 Some of these tests are now being used routinely in clinical practice, particularly in the United States, to rule out malignancy claiming false negative rates similar to that of benign cytology.…”

Section: Molecular Tests For the Evaluation Of Cytologically Indeterm...mentioning

confidence: 99%

“…67,68 In fact, it has been estimated that the risk of a cytologically indeterminate thyroid nodule being an aggressive, life-threatening cancer is between 1 in 500 and 1 in 3000 (0.03%-0.20%); similar to the risk of dying by choking on food (1 in 2618). 11 Therefore, longer follow-up data in nodules with benign/negative molecular tests' results is necessary to validate their real-world negative predictive value. Furthermore, a recent meta-analysis showed that repeating a fine needle-aspiration biopsy in atypia/follicular lesions of undetermined significance reclassifies 50% of them as benign with a negative predictive value greater than 96%; and reclassifies another 15% of the nodules into higher suspicion categories.…”

Section: Institutional Diagnostic Threshold For Malignancy In Ras-lik...mentioning

confidence: 99%

Clinical value of molecular markers as diagnostic and prognostic tools to guide treatment of thyroid cancer

Valderrábano

Eszlinger

Stewardson

et al. 2023

Clinical Endocrinology

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Objective Advances in our understanding of the molecular biology of thyroid tumours is being rapidly translated into their clinical management. This review summarizes the current use of molecular testing in thyroid tumours, focusing on their usefulness as diagnostic and prognostic tools to guide treatment with consideration of present limitations. Design Considerations about molecular testing applications for the diagnosis and treatment of thyroid tumours are divided into four sections/roles: (1) evaluating cytologically indeterminate thyroid nodules; (2) guiding extent of surgery in indeterminate thyroid nodules; (3) completing histological characterization of thyroid tumours and (4) identifying actionable mutations in advanced progressive thyroid cancers. Results Genomic testing can improve the presurgical malignancy risk assessment in indeterminate thyroid nodules. However, a prior in‐depth analysis of institutional quality and outcomes of sonographical, cytological and histological characterization of thyroid tumours is necessary. Presently, it remains uncertain whether knowing the molecular profile of a cytologically indeterminate thyroid nodule might be advantageous to modify the extent of initial surgery. Molecular characterization of thyroid tumours can be a valuable adjunct to morphological diagnosis in some challenging cases, such as in low‐risk follicular cell‐derived neoplasms, or rare tumours. Finally, as selective kinase inhibitors are available, molecular testing in locally advanced/metastatic progressive thyroid cancers should also be integrated into the institutional clinical management pathway to improve outcomes and limit toxicity. Conclusions Molecular testing needs to be implemented into the local evidence‐based clinical management thyroid nodule/cancer pathways to improve its diagnostic and prognostic value and to optimize cost‐effectiveness.

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“…Despite their performance which permits a reduction of the number of unnecessary surgical procedures, their significant cost is a barrier to their widespread use worldwide where they are frequently unavailable [7], [8]. Indeed, although the recommendations of the American and European Thyroid Associations suggest considering the use of a molecular test for ITN, they do not clearly recommend their systematic and indiscriminate use in routine practice [9], [10].…”

Section: Medical State Of the Artmentioning

confidence: 99%

Low-cost Thyroid Nodule Diagnosis Using a Supervised Autoencoder Neural network

Barlaud¹

2023

Preprint

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Background: Thyroid Nodules are more and more widespread, with the frequency of thyroid cancers increasing accordingly. In routine practice, the practician's goal is to determine if a nodule is malignant or suspicious, and thus requires surgery. However, nearly one-third of thyroid nodules fall into the 'indeterminate' classification segment, often leading to the use of surgery as a diagnostic tool, when it could have been avoided with a better preoperative diagnosis. Molecular tests exist to address this issue, but they are markedly onerous. Results: In this paper, we present an accurate, cost-less method to predict the malignancy of thyroid nodules using a categorical thyroid nodules dataset. The prediction is achieved through the use of a new supervised autoencoder neural network. Results show that the Supervised Autoencoder Neural Network outperforms classical classification methods on all evaluation metrics. A proof-of-concept Graphical User Interface was developed to demonstrate the medical usefulness of the latent space of the trained network. Conclusions: Aside from the prediction itself, the Supervised Autoencoder Neural Network provides three medically interesting characteristics: a prediction confidence score, consistent feature ranking, and an interpretable latent space. All of those characteristics are valuable from the practician's point of view, as they allow for an efficient, cost-less and well-informed prognosis.

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Molecular Profiling of Thyroid Nodules—Are These Findings Meaningful, or Merely Measurable?

Cited by 16 publications

References 38 publications

Molecular Testing for Thyroid Nodules: The Experience at McGill University Teaching Hospitals in Canada

Molecular Testing for Thyroid Nodules: The Experience at McGill University Teaching Hospitals in Canada

Clinical value of molecular markers as diagnostic and prognostic tools to guide treatment of thyroid cancer

Low-cost Thyroid Nodule Diagnosis Using a Supervised Autoencoder Neural network

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