2nd Edition: Molecular Testing for Thyroid Nodules and Cancer

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Methods and Technologies Development".

Deadline for manuscript submissions: 14 December 2024 | Viewed by 1272

Special Issue Editors


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Guest Editor
Department of Pathology, Jewish General Hospital, McGill University, Montréal, QC, Canada
Interests: thyroid cancer; papillary thyroid carcinoma; poorly differentiated thyroid carcinoma; anaplastic thyroid carcinoma; molecular pathology; cytology; fine needle aspiration; histopathology
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Guest Editor
Department of Otolaryngology—Head and Neck Surgery, Jewish General Hospital, McGill University, Montréal, QC, Canada
Interests: surgery of the thyroid and parathyroid glands
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

In the last decade, molecular testing for thyroid nodules and cancers has made significant progress, and it is able to identify thyroid cancer-related molecular markers which can then be applied clinically for improved decision making in different settings, representing a powerful diagnostic, prognostic, and predictive tool when used judiciously in conjunction with clinical, pathological, and radiological data. The main application of molecular testing is for thyroid nodules with indeterminate cytology (Bethesda III or IV), which represent 10–30% of thyroid nodules. For these indeterminate thyroid nodules, molecular testing is increasingly used in North America to predict the probability of cancer and help guide management, including surveillance for nodules that are likely benign or surgery for nodules that are likely malignant. For the latter nodules, molecular testing may also inform the extent of surgical management (lobectomy vs. total thyroidectomy) by predicting the cancer type and risk of cancer recurrence. Similarly, molecular testing may also be considered for thyroid nodules that are suspicious or positive for malignancy upon cytological examination (Bethesda V and VI) if the results are expected to impact patient management, including the timing and optimal extent of surgery. Finally, in patients with advanced thyroid cancer, including anaplastic thyroid carcinoma, molecular testing plays a critical role in identifying potential therapeutic targets, allowing for the consideration of neoadjuvant targeted therapy and redefining the role and timing of surgical intervention.

On the other hand, the various molecular testing platforms for thyroid nodules are still costly and not widely available, and data demonstrating significant clinical impacts and supporting their routine use in various clinical settings are still limited.

This Special Issue will include original articles and reviews that focus on key genetic alterations in thyroid nodules and cancers and the application of molecular testing with different platforms in the various clinical settings highlighted above.

You may choose our Joint Special Issue in Current Oncology.

We look forward to receiving your contribution.

Dr. Marc P. Pusztaszeri
Dr. Richard J. Payne
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cancers is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • thyroid nodules
  • thyroid cancer
  • molecular testing
  • cytology
  • fine needle aspiration
  • personalized medicine
  • mutations

Published Papers (1 paper)

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Research

10 pages, 692 KiB  
Article
The Impact of BRAF V600E Mutation Allele Frequency on the Histopathological Characteristics of Thyroid Cancer
by Mawaddah Abdulhaleem, Saruchi Bandargal, Marc Philippe Pusztaszeri, Mohannad Rajab, Hannah Greenspoon, Joshua Ross Krasner, Sabrina Daniela Da Silva, Véronique-Isabelle Forest and Richard J. Payne
Cancers 2024, 16(1), 113; https://doi.org/10.3390/cancers16010113 - 25 Dec 2023
Cited by 4 | Viewed by 1051
Abstract
Background: A BRAF V600E mutation in papillary thyroid cancer (PTC) has been shown to be associated with aggressive behavior. Nevertheless, not all BRAF V600E PTCs behave aggressively. Allele frequency (AF) is the number of mutated molecules divided by the total number of wild-type [...] Read more.
Background: A BRAF V600E mutation in papillary thyroid cancer (PTC) has been shown to be associated with aggressive behavior. Nevertheless, not all BRAF V600E PTCs behave aggressively. Allele frequency (AF) is the number of mutated molecules divided by the total number of wild-type molecules at a specific location in the genome. The relationship between BRAF V600E AF and the histopathological features of thyroid malignancies is not well understood. We hypothesized that the BRAF V600E AF will correlate directly with aggressive histopathological behavior. The aim of this study was to examine this relationship. Methods: A retrospective chart review was performed for patients treated for BRAF V600E thyroid malignancies from 2019 to 2022 at McGill University tertiary care hospitals (n = 317). Patients with BRAF V600E-positive malignancies that included information on AF were included (n = 44). The correlation between AF and tumor histopathological features was analyzed. Results: Out of the 44 nodules with a BRAF V600E mutation, those with aggressive features of PTC had a mean AF of 25.8%, which was significantly higher than the non-aggressive group with a mean AF of 10.25% (p = 0.020). Additionally, there was a statistically significant difference in mean AF between patients with a positive sentinel LN (29%) and those with a negative sentinel LN (17.8%) (p = 0.021). Classical PTC was present in 29.5% (13/44) of nodules, with a mean AF of 15.6%. The tall cell subtype was found in 64% (28/44) of nodules, with a mean AF of 23%. Solid and hobnail subtypes were less common in this study, and there was no statistically significant relationship between AF and histopathological subtypes (p = 0.107). Nodules smaller than 1cm had a mean AF of 13.3%, while nodules ranging from 1 2cm had a mean AF of 20.6%, and those larger than 2cm had a mean AF of 27.7%. However, no statistical difference was observed between AF and nodule size (p = 0.160). Conclusion: In this study, BRAF V600E mutations in conjunction with AF help to determine whether thyroid malignancies will display aggressive behavior. This pre-operative finding can help thyroid specialists to determine the extent of thyroidectomy and whether lymph node dissection is required. Full article
(This article belongs to the Special Issue 2nd Edition: Molecular Testing for Thyroid Nodules and Cancer)
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