Clinical & Medical Biochemistry

Prognostic Significance of Cyclin D1 and EMT-related Genes in Parathyroid Carcinoma

Yoosun Kim^* Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea
^*Correspondence: Yoosun Kim, Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea, Email:

Received: 01-May-2023, Manuscript No. CMBO-23-21835; Editor assigned: 04-May-2023, Pre QC No. CMBO-23-21835 (PQ); Reviewed: 18-May-2023, QC No. CMBO-23-21835; Revised: 25-May-2023, Manuscript No. CMBO-23-21835 (R); Published: 01-Jun-2023, DOI: 10.35841/2471-2663.23.9.171

Description

Parathyroid carcinoma is a rare malignancy arising from the parathyroid glands, responsible for regulating calcium homeostasis. Understanding the molecular characteristics of parathyroid carcinoma is crucial for accurate diagnosis, prognostication, and targeted therapeutic interventions [1]. Genomic and transcriptomic profiling techniques have emerged as powerful tools for unraveling the underlying molecular alterations in cancer. Genomic profiling studies have uncovered several recurrent genetic alterations in parathyroid carcinoma [2]. Mutations in the Cell Division Cycle 73 (CDC73) gene, encoding parafibromin, have been identified as a hallmark of parathyroid carcinoma. CDC73 mutations disrupt the function of parafibromin, a tumor suppressor protein involved in transcriptional regulation, cell cycle control, and Deoxyribonucleic Acid (DNA) repair [3]. Loss of heterozygosity at the CDC73 locus is also frequently observed, indicating its importance in tumorigenesis. In addition to CDC73 mutations, other genetic alterations have been identified in parathyroid carcinoma. The Multiple Endocrine Neoplasia Link Type 1 (MEN1) gene, associated with multiple endocrine neoplasia type 1, is implicated in parathyroid tumorigenesis [4].

MEN1 mutations result in loss of the encoded protein menin, which plays a role in transcriptional regulation and cell proliferation control. Moreover, genomic profiling studies have revealed alterations in genes involved in the Wingless/Integrated (Wnt/β) catenin pathway, such as Catenin Beta 1 (CTNNB1) and Adenomatous Polyposis Coli (APC), suggesting their potential role in parathyroid carcinoma development. Transcriptomic profiling of parathyroid carcinoma has provided insights into the molecular heterogeneity and dysregulated pathways in this malignancy [5]. Gene expression analysis has identified differentially expressed genes involved in calcium signaling, cell proliferation, and cell cycle regulation.

Overexpression of Cyclin D1 (CCND1) and Cyclin-Dependent Kinase 4 ( CDK 4 )has been observed in parathyroid carcinoma, indicating aberrant cell cycle control and proliferation. Furthermore, transcriptomic studies have uncovered dysregulation of genes associated with Epithelial Mesenchymal Transition (EMT). EMT-related genes, including Twist-Related Protein 1(TWIST1), Snail Family Transcriptional Repressor 1 (SNAIL1), and Zinc Finger E-Box Binding Homeobox 1 (ZEB1), are upregulated in parathyroid carcinoma, suggesting a potential role in tumor invasion and metastasis [6]. The molecular characteristics revealed by genomic and transcriptomic profiling hold significant implications for the clinical management of parathyroid carcinoma [7]. The identification of recurrent genetic alterations, such as CDC73 and MEN1 mutations, can aid in the diagnosis and differential diagnosis of parathyroid carcinoma, distinguishing it from benign parathyroid tumors. The molecular signatures identified through transcriptomic profiling can serve as potential prognostic markers, enabling risk stratification and personalized treatment approaches [8]. Lastly, the molecular insights gained from genomic and transcriptomic profiling can guide the development of targeted therapies for parathyroid carcinoma.

Exploiting the vulnerabilities associated with specific genetic alterations, such as CDC73 or MEN1 mutations, could offer novel therapeutic avenues [9]. Furthermore, the dysregulated pathways identified through transcriptomic profiling may uncover potential therapeutic targets, including novel signaling pathways or immune-related targets, for the development of targeted drugs or immunotherapies. Additionally, the integration of genomic and transcriptomic data with other omics technologies, such as proteomics and metabolomics, can provide a comprehensive understanding of the molecular landscape of parathyroid carcinoma. This multi-omics approach may uncover additional molecular alterations, biomarkers, and therapeutic targets. Furthermore, the advent of single-cell sequencing technologies has opened up new avenues for dissecting the cellular heterogeneity within parathyroid carcinoma. Single-cell transcriptomic profiling can identify distinct cell populations, characterize tumor subclones, and unravel the cellular interactions within the tumor microenvironment. This knowledge can inform the development of personalized treatment strategies and combination therapies targeting different cellular components [10].

Conclusion

Genomic and transcriptomic profiling techniques have revolutionized the understanding of parathyroid carcinoma at the molecular level. The identification of recurrent genetic alterations, dysregulated pathways, and potential therapeutic targets can guide accurate diagnosis, prognostication, and personalized treatment approaches. Further advancements in technology and integration with other omics data are likely to deepen the understanding of this rare malignancy and provide new avenues for targeted therapies, ultimately improving patient outcomes.

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