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Molecular Biology of Parathyroid Tumors 2.0
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Molecular Biology of Parathyroid Tumors 2.0

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Endocrinology and Metabolism".

Deadline for manuscript submissions: closed (31 January 2023) | Viewed by 6874

Special Issue Editor

Dr. Sabrina Corbetta

E-Mail Website
Guest Editor
Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy
Interests: parathyroid diseases; bone metabolism disorders
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Parathyroid tumors are the second most common endocrine neoplasia. They are mainly benign lesions associated with parathormone (PTH) inappropriate secretion, determining the metabolic disorder known as primary hyperparathyroidism (PHPT). Parathyroid tumors are characterized by calcium-sensing receptor (CASR)-mediated reduced sensitivity to extracellular calcium. Genetic and epigenetic alterations resulting in aberrant expression of protein-coding and non-coding genes have been identified in parathyroid tumors. Besides inactivating mutations of the oncosuppressors MEN1 and HRPT2/CDC73, epigenetic changes have been reported. Impaired DNA methylation involving single genes, the deregulated expression of microRNAs, and long noncoding RNAs have started to be to be investigated. However, many aspects of the molecular biology of the parathyroid tumors need to be explored, such as the molecular pathways related to the genetic and epigenetic aberrations, and their effects on parathyroid cell proliferation and/or sensitivity to extracellular calcium, in order to provide targets for new therapeutic approaches, which are lacking.

The Special Issue aims to widely explore the molecular and biological features of parathyroid tumorigenesis, focusing on genetic and epigenetic aspects, parathyroid cell proliferation and biology, tumor microenvironment, CASR-mediated sensitivity to extracellular calcium, deregulation of the PTH release, and the differences between the benign and malignant behavior of the parathyroid cells, considering original articles and review papers.

Prof. Dr. Sabrina Corbetta
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.

Published Papers (3 papers)

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Review

25 pages, 954 KiB  
Review
Immunohistochemical Profile of Parathyroid Tumours: A Comprehensive Review
by Romans Uljanovs, Stanislavs Sinkarevs, Boriss Strumfs, Liga Vidusa, Kristine Merkurjeva and Ilze Strumfa
Int. J. Mol. Sci. 2022, 23(13), 6981; https://doi.org/10.3390/ijms23136981 - 23 Jun 2022
Cited by 8 | Viewed by 2215
Abstract
Immunohistochemistry remains an indispensable tool in diagnostic surgical pathology. In parathyroid tumours, it has four main applications: to detect (1) loss of parafibromin; (2) other manifestations of an aberrant immunophenotype hinting towards carcinoma; (3) histogenesis of a neck mass and (4) pathogenetic events, [...] Read more.
Immunohistochemistry remains an indispensable tool in diagnostic surgical pathology. In parathyroid tumours, it has four main applications: to detect (1) loss of parafibromin; (2) other manifestations of an aberrant immunophenotype hinting towards carcinoma; (3) histogenesis of a neck mass and (4) pathogenetic events, including features of tumour microenvironment and immune landscape. Parafibromin stain is mandatory to identify the new entity of parafibromin-deficient parathyroid neoplasm, defined in the WHO classification (2022). Loss of parafibromin indicates a greater probability of malignant course and should trigger the search for inherited or somatic CDC73 mutations. Aberrant immunophenotype is characterised by a set of markers that are lost (parafibromin), down-regulated (e.g., APC protein, p27 protein, calcium-sensing receptor) or up-regulated (e.g., proliferation activity by Ki-67 exceeding 5%) in parathyroid carcinoma compared to benign parathyroid disease. Aberrant immunophenotype is not the final proof of malignancy but should prompt the search for the definitive criteria for carcinoma. Histogenetic studies can be necessary for differential diagnosis between thyroid vs. parathyroid origin of cervical or intrathyroidal mass; detection of parathyroid hormone (PTH), chromogranin A, TTF-1, calcitonin or CD56 can be helpful. Finally, immunohistochemistry is useful in pathogenetic studies due to its ability to highlight both the presence and the tissue location of certain proteins. The main markers and challenges (technological variations, heterogeneity) are discussed here in the light of the current WHO classification (2022) of parathyroid tumours. Full article
(This article belongs to the Special Issue Molecular Biology of Parathyroid Tumors 2.0)
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10 pages, 630 KiB  
Review
Histone Modification on Parathyroid Tumors: A Review of Epigenetics
by Luiz C. Conti de Freitas, Rogerio M. Castilho and Cristiane H. Squarize
Int. J. Mol. Sci. 2022, 23(10), 5378; https://doi.org/10.3390/ijms23105378 - 11 May 2022
Cited by 3 | Viewed by 1998
Abstract
Parathyroid tumors are very prevalent conditions among endocrine tumors, being the second most common behind thyroid tumors. Secondary hyperplasia can occur beyond benign and malignant neoplasia in parathyroid glands. Adenomas are the leading cause of hyperparathyroidism, while carcinomas represent less than 1% of [...] Read more.
Parathyroid tumors are very prevalent conditions among endocrine tumors, being the second most common behind thyroid tumors. Secondary hyperplasia can occur beyond benign and malignant neoplasia in parathyroid glands. Adenomas are the leading cause of hyperparathyroidism, while carcinomas represent less than 1% of the cases. Tumor suppressor gene mutations such as MEN1 and CDC73 were demonstrated to be involved in tumor development in both familiar and sporadic types; however, the epigenetic features of the parathyroid tumors are still a little-explored subject. We present a review of epigenetic mechanisms related to parathyroid tumors, emphasizing advances in histone modification and its perspective of becoming a promising area in parathyroid tumor research. Full article
(This article belongs to the Special Issue Molecular Biology of Parathyroid Tumors 2.0)
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Figure 1

19 pages, 321 KiB  
Review
Parathyroid Tumors: Molecular Signatures
by Francesca Marini, Francesca Giusti, Teresa Iantomasi and Maria Luisa Brandi
Int. J. Mol. Sci. 2021, 22(20), 11206; https://doi.org/10.3390/ijms222011206 - 18 Oct 2021
Cited by 12 | Viewed by 1919
Abstract
Parathyroid tumors are rare endocrine neoplasms affecting 0.1–0.3% of the general population, including benign parathyroid adenomas (PAs; about 98% of cases), intermediate atypical parathyroid adenomas (aPAs; 1.2–1.3% of cases) and malignant metastatic parathyroid carcinomas (PCs; less than 1% of cases). These tumors are [...] Read more.
Parathyroid tumors are rare endocrine neoplasms affecting 0.1–0.3% of the general population, including benign parathyroid adenomas (PAs; about 98% of cases), intermediate atypical parathyroid adenomas (aPAs; 1.2–1.3% of cases) and malignant metastatic parathyroid carcinomas (PCs; less than 1% of cases). These tumors are characterized by a variable spectrum of clinical phenotypes and an elevated cellular, histological and molecular heterogeneity that make it difficult to pre-operatively distinguish PAs, aPAs and PCs. Thorough knowledge of genetic, epigenetic, and molecular signatures, which characterize different parathyroid tumor subtypes and drive different tumorigeneses, is a key step to identify potential diagnostic biomarkers able to distinguish among different parathyroid neoplastic types, as well as provide novel therapeutic targets and strategies for these rare neoplasms, which are still a clinical and therapeutic challenge. Here, we review the current knowledge on gene mutations and epigenetic changes that have been associated with the development of different clinical types of parathyroid tumors, both in familial and sporadic forms of these endocrine neoplasms. Full article
(This article belongs to the Special Issue Molecular Biology of Parathyroid Tumors 2.0)
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