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Advances in Metabolism, Immunology, Genetics in Thyroid Cancer and Thyroid Disease: From Bench to Therapy

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A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: closed (31 May 2023) | Viewed by 8258

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Prof. Dr. Fulvio Basolo

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Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Via Savi 10, 56126 Pisa, Italy
Interests: thyroid cancer; prognostic/molecular markers; thyroid metabolism

Special Issue Information

Dear Colleagues,

Thyroid disorders and thyroid cancer are increasingly common in the general population. Molecular mechanisms underlying the pathogenesis of thyroid disease include metabolic, immunological, and genetic alterations. The scientific community has made considerable progress in the understanding of these pathological mechanisms. In the treatment of advanced thyroid cancer, the discovery of genetic alterations driving cancer progression led to the development of targeted drugs, which selectively block cell proliferation. However, there is still much to be done.

This Special Issue will focus on the molecular bases of hormone metabolism alteration, thyroid cell disfunction, and immune-endocrine interaction; moreover, special attention will be dedicated to the investigation of molecular markers involved in thyroid cancer diagnosis, prognosis, and therapy. Reports on patients with novel or peculiar molecular characteristics will also be included.

The aim of this Special Issue is to provide an overview of the most recent advances in the field of molecular mechanisms and alterations driving the development of thyroid disorders, and to highlight how the basic research has the potential to influence and contribute to the clinical perspective.

Prof. Dr. Fulvio Basolo
Guest Editor

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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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 metabolism
thyroid cancer
molecular markers
immunology
cancer therapy

Published Papers (4 papers)

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Research

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9 pages, 937 KiB

Open AccessArticle

Expanding the Spectrum of BRAF Non-V600E Mutations in Thyroid Nodules: Evidence-Based Data from a Tertiary Referral Centre

by Antonio De Leo, Daniela Serban, Thais Maloberti, Viviana Sanza, Sara Coluccelli, Annalisa Altimari, Elisa Gruppioni, Federico Chiarucci, Angelo Gianluca Corradini, Andrea Repaci, Alessandra Colapinto, Margherita Nannini, Maria A. Pantaleo, Dario de Biase and Giovanni Tallini

Int. J. Mol. Sci. 2023, 24(4), 4057; https://doi.org/10.3390/ijms24044057 - 17 Feb 2023

Cited by 2 | Viewed by 1749

Abstract

The BRAF p.V600E mutation represents the most specific marker for papillary thyroid carcinoma and is potentially related to aggressive behavior and persistent disease. BRAF alterations other than the p.V600E are less common in thyroid carcinoma and represent an alternative mechanism of BRAF activation with unclear clinical significance. The study aims to describe the frequency and clinicopathologic characteristics of BRAF non-V600E mutations in a large cohort (1654 samples) of thyroid lesions characterized by next-generation sequencing. BRAF mutations have been found in 20.3% (337/1654) of thyroid nodules, including classic (p.V600E) mutation in 19.2% (317/1654) of samples and non-V600E variants in 1.1% of cases (19/1654). BRAF non-V600E alterations include 5 cases harboring p.K601E, 2 harboring p.V600K substitutions, 2 with a p.K601G variant, and 10 cases with other BRAF non-V600E alterations. BRAF non-V600E mutations have been reported in one case of follicular adenoma, three cases of conventional papillary thyroid carcinoma, eight cases of follicular variant of papillary carcinomas, one case of columnar cell variant papillary thyroid carcinoma, one case of oncocytic follicular carcinoma, and two bone metastasis of follicular thyroid carcinoma. We confirm that BRAF non-V600E mutations are uncommon and typically found in indolent follicular-patterned tumors. Indeed, we show that BRAF non-V600E mutations can be found in tumors with metastatic potential. However, in both aggressive cases, the BRAF mutations were concomitant with other molecular alterations, such as TERT promoter mutation. Full article

(This article belongs to the Special Issue Advances in Metabolism, Immunology, Genetics in Thyroid Cancer and Thyroid Disease: From Bench to Therapy)

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11 pages, 1131 KiB

Open AccessArticle

Antineoplastic Activity of Pazopanib in Anaplastic Thyroid Cancer in Primary Culture

by Silvia Martina Ferrari, Giusy Elia, Francesca Ragusa, Sabrina Rosaria Paparo, Valeria Mazzi, Armando Patrizio, Simona Piaggi, Enke Baldini, Marco Centanni, Concettina La Motta, Alessandro Antonelli and Poupak Fallahi

Int. J. Mol. Sci. 2023, 24(3), 2398; https://doi.org/10.3390/ijms24032398 - 25 Jan 2023

Cited by 1 | Viewed by 1451

Abstract

Anaplastic thyroid cancer (ATC) is a rare and rapidly fatal human cancer. Its usual treatment includes the combination of surgery, external hyperfractionated radiation therapy, and chemotherapy. These treatments permit achieving about 6–10 months of median survival. For this reason, it is challenging to predict the ATC patient clinical therapy responsiveness. Pazopanib is a multitarget tyrosine kinase inhibitor of VEGF receptors, PDGF, and c-Kit. Until now, the effect of pazopanib in primary human ATC cells (pATC) has not been reported in the literature. The aim of our study was to evaluate in vitro the antineoplastic effect of pazopanib in pATC. Surgical thyroidal tissues were collected from five patients with ATC, from thyroid biopsy at the moment of first surgical operation. An inhibition of proliferation, migration, and invasion, and an increase in apoptosis were demonstrated upon treating pATC cells with pazopanib (p < 0.05). Moreover, pazopanib was able to significantly decrease the VEGF expression in pATC cells (p < 0.05). To conclude, in this study, we demonstrate the antineoplastic activity of the antiangiogenic inhibitor, pazopanib, in human pATC in vitro. Full article

(This article belongs to the Special Issue Advances in Metabolism, Immunology, Genetics in Thyroid Cancer and Thyroid Disease: From Bench to Therapy)

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9 pages, 701 KiB

Open AccessArticle

Limited Accuracy of Pan-Trk Immunohistochemistry Screening for NTRK Rearrangements in Follicular-Derived Thyroid Carcinoma

by Elisabetta Macerola, Agnese Proietti, Anello Marcello Poma, Paola Vignali, Rebecca Sparavelli, Alessandro Ginori, Alessio Basolo, Rossella Elisei, Ferruccio Santini and Fulvio Basolo

Int. J. Mol. Sci. 2022, 23(13), 7470; https://doi.org/10.3390/ijms23137470 - 05 Jul 2022

Cited by 5 | Viewed by 1663

Abstract

Patients with advanced thyroid cancer harboring NTRK rearrangements can be treated with highly effective selective inhibitors. Immunohistochemistry (IHC) analysis, to detect Trk protein expression, represents an appealing screening strategy for NTRK rearrangements, but its efficacy has been poorly explored in thyroid cancer. The aim of this study is to investigate the diagnostic utility of Trk IHC in the identification of NTRK rearrangements. A series of 26 follicular-derived thyroid tumors, positive for NTRK rearrangements, and 28 NTRK fusion-negative controls were retrospectively analyzed by IHC using the pan-Trk monoclonal antibody (clone EPR17341) on the Ventana system. Area under the curve (AUC), sensitivity and specificity were calculated by ROC analysis. Trk expression was detected in 25 samples, including 22 out of the 26 NTRK-rearranged (84.6%) and three out of 28 NTRK-negative samples (10.7%). Four out of twenty-six NTRK-rearranged thyroid tumors were negative for Trk expression (15.4%), all carrying the ETV6/NTRK3 fusion. The AUC, sensitivity and specificity were 0.87, 0.85 and 0.89, respectively. A screening based on IHC analysis showed limited sensitivity and specificity in the identification of NTRK-rearranged tumors. Since falsely negative results could preclude the administration of effective targeted drugs, alternative detection strategies should be considered for thyroid cancer. Full article

(This article belongs to the Special Issue Advances in Metabolism, Immunology, Genetics in Thyroid Cancer and Thyroid Disease: From Bench to Therapy)

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Review

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17 pages, 1070 KiB

Open AccessReview

Vitamin D-Related Genes and Thyroid Cancer—A Systematic Review

by Adam Maciejewski and Katarzyna Lacka

Int. J. Mol. Sci. 2022, 23(21), 13661; https://doi.org/10.3390/ijms232113661 - 07 Nov 2022

Cited by 3 | Viewed by 2769

Abstract

Vitamin D, formerly known for its role in calcium-phosphorus homeostasis, was shown to exert a broad influence on immunity and on differentiation and proliferation processes in the last few years. In the field of endocrinology, there is proof of the potential role of vitamin D and vitamin D-related genes in the pathogenesis of thyroid cancer—the most prevalent endocrine malignancy. Therefore, the study aimed to systematically review the publications on the association between vitamin D-related gene variants (polymorphisms, mutations, etc.) and thyroid cancer. PubMed, EMBASE, Scopus, and Web of Science electronic databases were searched for relevant studies. A total of ten studies were found that met the inclusion criteria. Six vitamin D-related genes were analyzed (VDR—vitamin D receptor, CYP2R1—cytochrome P450 family 2 subfamily R member 1, CYP24A1—cytochrome P450 family 24 subfamily A member 1, CYP27B1—cytochrome P450 family 27 subfamily B member 1, DHCR7—7-dehydrocholesterol reductase and CUBN—cubilin). Moreover, a meta-analysis was conducted to summarize the data from the studies on VDR polymorphisms (rs2228570/FokI, rs1544410/BsmI, rs7975232/ApaI and rs731236/TaqI). Some associations between thyroid cancer risk (VDR, CYP24A1, DHCR7) or the clinical course of the disease (VDR) and vitamin D-related gene polymorphisms were described in the literature. However, these results seem inconclusive and need validation. A meta-analysis of the five studies of common VDR polymorphisms did not confirm their association with increased susceptibility to differentiated thyroid cancer. Further efforts are necessary to improve our understanding of thyroid cancer pathogenesis and implement targeted therapies for refractory cases. Full article

(This article belongs to the Special Issue Advances in Metabolism, Immunology, Genetics in Thyroid Cancer and Thyroid Disease: From Bench to Therapy)

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Advances in Metabolism, Immunology, Genetics in Thyroid Cancer and Thyroid Disease: From Bench to Therapy

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