scholarly journals Recent Advances in Molecular Diagnosis of Thyroid Cancer

2011 ◽  
Vol 2011 ◽  
pp. 1-8 ◽  
Author(s):  
Ioannis Legakis ◽  
Konstantinos Syrigos
Keyword(s):  
Thyroid Cancer ◽  
Tumor Development ◽  
Disease Process ◽  
Genetic Alterations ◽  
Aberrant Methylation ◽  
Novel Treatments ◽  
Molecular Alterations ◽  
Molecular Events ◽  
Diagnosis Of Thyroid Cancer

Recent molecular studies have described a number of abnormalities associated with the progression and dedifferentiation of thyroid carcinoma. These distinct molecular events are often associated with specific stages of tumor development. In particular, remarkable advances have occurred in several major biological areas of thyroid cancer, including the molecular alterations for the loss of radioiodine avidity of thyroid cancer, the pathogenic role of the MAP kinase and PI3K/Akt pathways and their related genetic alterations, and the aberrant methylation of functionally important genes in thyroid tumorigenesis and pathogenesis. Recognition of these features is crucial to the management of patients with thyroid cancer. Novel treatments are being designed based on our enhanced understanding of this disease process.

Molecular Diagnostics of Thyroid Tumors

2011 ◽  
Vol 135 (5) ◽  
pp. 569-577 ◽  
Author(s):  
Yuri E. Nikiforov
Keyword(s):  
Thyroid Cancer ◽  
Molecular Markers ◽  
Fine Needle Aspiration ◽  
Thyroid Nodules ◽  
Needle Aspiration ◽  
Genetic Alterations ◽  
Braf V600e ◽  
Fine Needle ◽  
Molecular Alterations ◽  
Diagnostic Use

Abstract Context.—Thyroid cancer is the most common type of endocrine malignancy and its incidence is steadily increasing. Papillary carcinoma and follicular carcinoma are the most common types of thyroid cancer and represent those tumor types for which use of molecular markers for diagnosis and prognostication is of high clinical significance. Objective.—To review the most common molecular alterations in thyroid cancer and their diagnostic and prognostic utility. Data Sources.—PubMed (US National Library of Medicine)–available review articles, peer-reviewed original articles, and experience of the author. Conclusions.—The most common molecular alterations in thyroid cancer include BRAF and RAS point mutations and RET/PTC and PAX8/PPARγ rearrangements. These nonoverlapping genetic alterations are found in more than 70% of papillary and follicular thyroid carcinomas. These molecular alterations can be detected in surgically resected samples and fine-needle aspiration samples from thyroid nodules and can be of significant diagnostic use. The diagnostic role of BRAF mutations has been studied most extensively, and recent studies also demonstrated a significant diagnostic utility of RAS, RET/PTC, and PAX8/PPARγ mutations, particularly in thyroid fine-needle aspiration samples with indeterminate cytology. In addition to the diagnostic use, BRAF V600E mutation can also be used for tumor prognostication, as this mutation is associated with higher rate of tumor recurrence and tumor-related mortality. The use of these and other emerging molecular markers is expected to improve significantly the accuracy of cancer diagnosis in thyroid nodules and allow more individualized surgical and postsurgical management of patients with thyroid cancer.

scholarly journals DNA methylation in thyroid cancer

2019 ◽  
Vol 26 (7) ◽  
pp. R415-R439 ◽  
Author(s):  
Carles Zafon ◽  
Joan Gil ◽  
Beatriz Pérez-González ◽  
Mireia Jordà
Keyword(s):  
Dna Methylation ◽  
Thyroid Cancer ◽  
Cancer Genomics ◽  
Therapeutic Potential ◽  
Current Knowledge ◽  
Genetic Alterations ◽  
Epigenetic Mechanism ◽  
Aberrant Methylation ◽  
Technological Advances ◽  
Molecular Landscape

In recent years, cancer genomics has provided new insights into genetic alterations and signaling pathways involved in thyroid cancer. However, the picture of the molecular landscape is not yet complete. DNA methylation, the most widely studied epigenetic mechanism, is altered in thyroid cancer. Recent technological advances have allowed the identification of novel differentially methylated regions, methylation signatures and potential biomarkers. However, despite recent progress in cataloging methylation alterations in thyroid cancer, many questions remain unanswered. The aim of this review is to comprehensively examine the current knowledge on DNA methylation in thyroid cancer and discuss its potential clinical applications. After providing a general overview of DNA methylation and its dysregulation in cancer, we carefully describe the aberrant methylation changes in thyroid cancer and relate them to methylation patterns, global hypomethylation and gene-specific alterations. We hope this review helps to accelerate the use of the diagnostic, prognostic and therapeutic potential of DNA methylation for the benefit of thyroid cancer patients.

scholarly journals Current and Future Role of Tyrosine Kinases Inhibition in Thyroid Cancer: From Biology to Therapy

2020 ◽  
Vol 21 (14) ◽  
pp. 4951
Author(s):  
María San Román Gil ◽  
Javier Pozas ◽  
Javier Molina-Cerrillo ◽  
Joaquín Gómez ◽  
Héctor Pian ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Tyrosine Kinases ◽  
Genetic Alterations ◽  
Point Of View ◽  
Adequate Treatment ◽  
Comprehensive Review ◽  
Tumor Characterization ◽  
Therapeutic Algorithm ◽  
Clinical Point

Thyroid cancer represents a heterogenous disease whose incidence has increased in the last decades. Although three main different subtypes have been described, molecular characterization is progressively being included in the diagnostic and therapeutic algorithm of these patients. In fact, thyroid cancer is a landmark in the oncological approach to solid tumors as it harbors key genetic alterations driving tumor progression that have been demonstrated to be potential actionable targets. Within this promising and rapid changing scenario, current efforts are directed to improve tumor characterization for an accurate guidance in the therapeutic management. In this sense, it is strongly recommended to perform tissue genotyping to patients that are going to be considered for systemic therapy in order to select the adequate treatment, according to recent clinical trials data. Overall, the aim of this article is to provide a comprehensive review on the molecular biology of thyroid cancer focusing on the key role of tyrosine kinases. Additionally, from a clinical point of view, we provide a thorough perspective, current and future, in the treatment landscape of this tumor.

scholarly journals Renal cell carcinoma: a review of biology and pathophysiology

F1000Research ◽  
2018 ◽  
Vol 7 ◽  
pp. 307 ◽  
Author(s):  
Shahzaib Nabi ◽  
Elizabeth R. Kessler ◽  
Brandon Bernard ◽  
Thomas W. Flaig ◽  
Elaine T. Lam
Keyword(s):  
Renal Cell Carcinoma ◽  
Immune System ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Disease Process ◽  
Genetic Alterations ◽  
Therapeutic Approaches ◽  
Main Emphasis ◽  
Insight Into

Over the past decade, our understanding of the biology and pathophysiology of renal cell carcinoma (RCC) has improved significantly. Insight into the disease process has helped us in developing newer therapeutic approaches toward RCC. In this article, we review the various genetic and immune-related mechanisms involved in the pathogenesis and development of this cancer and how that knowledge is being used to develop therapeutic targeted drugs for the treatment of RCC. The main emphasis of this review article is on the most common genetic alterations found in clear cell RCC and how various drugs are currently targeting such pathways. This article also looks at the role of the immune system in allowing the growth of RCC and how the immune system can be manipulated to reactivate cytotoxic immunity against RCC.

scholarly journals BRAF Exon 15 Mutations in Papillary Carcinoma and Adjacent Thyroid Parenchyma: A Search for the Early Molecular Events Associated with Tumor Development

Cancers ◽  
2020 ◽  
Vol 12 (2) ◽  
pp. 430 ◽  
Author(s):  
Giorgia Acquaviva ◽  
Dario de Biase ◽  
Chiara Diquigiovanni ◽  
Chiara Maria Argento ◽  
Antonio De Leo ◽  
...  
Keyword(s):  
Protein Function ◽  
Massively Parallel Sequencing ◽  
Tumor Development ◽  
Follicular Cell ◽  
Cell Hyperplasia ◽  
Molecular Alterations ◽  
Molecular Events ◽  
Mutagenic Process ◽  
Thyroid Parenchyma

BRAF exon 15 mutations are the most common molecular alterations found in papillary thyroid carcinoma (PTC). To date, there is no information regarding BRAF alterations in the thyroid parenchyma surrounding the tumor. To explore the early events associated with the development of PTC, we used massively parallel sequencing to investigate BRAF exon 15 in 30 PTCs and in 100 samples from the thyroid parenchyma surrounding the tumor. BRAF p.V600E was identified in 19/30 PTCs (63.3%). BRAF p.V600E mutations were identified in the tissue adjacent the PTC only in samples containing psammoma bodies. The other samples were either BRAF wild type (WT) or carried BRAF non p.V600E mutations. Specifically, BRAF p.G593D, -p.A598T, -p.V600M, -p.R603Q, -p.S607F, and -p.S607P were identified in 4 of 36 (11.1%) samples with follicular cell atypia, in 2 of 16 (12.5%) with follicular cell hyperplasia, and in 1 of 33 (3.0%) histologically normal samples—Only in tissue surrounding BRAF p.V600E mutated PTCs. These mutations are predicted to affect protein function in silico but, in vitro, have kinase activity and BRAF phosphorylation levels similar to BRAF WT. No BRAF exon 15 mutations were identified in samples adjacent to PTCs that were BRAF WT. A mutagenic process affecting BRAF exon 15 occurs in a subset of thyroid glands that develop BRAF p.V600E mutated PTCs.

scholarly journals Molecular characterization and clinical relevance of m6A regulators across 33 cancer types

2019 ◽  
Vol 18 (1) ◽  
Author(s):  
Yongsheng Li ◽  
Jun Xiao ◽  
Jing Bai ◽  
Yi Tian ◽  
Yinwei Qu ◽  
...  
Keyword(s):  
Clinical Relevance ◽  
Critical Role ◽  
Genetic Alterations ◽  
Biological Processes ◽  
Valuable Resource ◽  
Multiple Cancer ◽  
Molecular Alterations ◽  
Prognostic Stratification ◽  
Cancer Types

Abstract The methylation of N6 adenosine (m6A) plays a critical role in diverse biological processes. However, knowledge regarding the reconstitution of m6A across cancer types is still lacking. Here, we systematically analyzed the molecular alterations and clinical relevance of m6A regulators across > 10,000 subjects representing 33 cancer types. We found that there are widespread genetic alterations to m6A regulators, and that their expression levels are significantly correlated with the activity of cancer hallmark-related pathways. Moreover, m6A regulators were found to be potentially useful for prognostic stratification, and we identified IGF2BP3 as a potential oncogene across multiple cancer types. Our results provide a valuable resource that will guide both mechanistic and therapeutic analyses of the role of m6A regulators in cancer.

scholarly journals The Role of the NIS (SLC5A5) Gene in Papillary Thyroid Cancer: A Systematic Review

2018 ◽  
Vol 2018 ◽  
pp. 1-11 ◽  
Author(s):  
Rafael Martins de Morais ◽  
Alaor Barra Sobrinho ◽  
Calliandra Maria de Souza Silva ◽  
Jamila Reis de Oliveira ◽  
Izabel Cristina Rodrigues da Silva ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Papillary Thyroid Cancer ◽  
Decisive Role ◽  
Genetic Alterations ◽  
Epigenetic Alterations ◽  
Papillary Thyroid ◽  
Transmembrane Glycoprotein ◽  
Cancer Pathogenesis ◽  
Nis Gene

Papillary thyroid cancer (PTC) is the most common thyroid malignancy. Genetic and epigenetic alterations play a decisive role in the onset of several human neoplasms. Mutations and polymorphisms are two frequent genetic alterations. Located on chromosome 19 (19p13.11), the NIS SLC5A5 (solute carrier family 5 member 5) gene encodes a highly specialized and efficient 80–90 kDa transmembrane glycoprotein that mediates active transport of iodide from the bloodstream into the follicular cells. Given the highly significant role of NIS in the physiology and the cancer pathogenesis process, this paper’s objective is to provide a comprehensive assessment of the associations between NIS gene and protein with papillary thyroid cancer.

Medulloblastoma: mouse models and novel targeted therapies based on the Sonic hedgehog pathway

2005 ◽  
Vol 19 (5) ◽  
pp. 1-7 ◽  
Author(s):  
Leandro R. Piedimonte ◽  
Ian K. Wailes ◽  
Howard L. Weiner
Keyword(s):  
Mouse Models ◽  
Sonic Hedgehog ◽  
Genetic Alterations ◽  
Hedgehog Pathway ◽  
Signaling Cascades ◽  
Sonic Hedgehog Pathway ◽  
Cancer Treatments ◽  
Novel Treatments ◽  
Molecular Alterations ◽  
The Central Nervous System

Understanding molecular pathways, signaling cascades, and genetic alterations activated during tumorigenesis is essential for the development of targeted cancer treatments. In children, tumors of the central nervous system are thought to arise from progenitor cells that show considerable temporal and spatial heterogeneity in a developmental environment that is different from that of the adult. Investigating the molecular basis of pediatric tumors is critical because it is likely to generate novel treatments. Animal models have brought many important advances in this field. In this review the authors discuss the mouse models based on the Sonic hedgehog pathway, which have provided a better knowledge of the genetic and molecular alterations of medulloblastoma.

scholarly journals How does the NPM1 mutant induce leukemia?

2011 ◽  
Vol 3 (2s) ◽  
pp. 6 ◽  
Author(s):  
Paolo Sportoletti
Keyword(s):  
Myeloid Leukemia ◽  
Tumor Development ◽  
Genetic Alterations ◽  
In Vivo Studies ◽  
Npm1 Mutation ◽  
Protein Partners ◽  
Cellular Pathways

NPM1 is the most frequently mutated gene in AML and the role of the NPM1 mutant in acute myeloid leukemia along with its leukemogenic potential are still under investigation. NPM1 genetic alterations can contribute to leukemogenesis through the direct oncogenic effect of the mutant protein and the concomitant loss of one functional allele. Npm1 loss determines tumor development in the mouse while in human NPM1 maps in a chromosomal region frequently loss in myelodysplastic syndrome (MDS). The NPM1 mutant cytoplasmic delocalization in leukemic blasts alters multiple cellular pathways through either loss or gain of function effects on different protein partners. Here we discuss the most relevant studies on the role of the NPM1 molecule in hematological malignancies and both in vitro and in vivo studies that are trying to elucidate the way by which the NPM1 mutation induces leukemia.

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