scholarly journals Diagnostic Immunohistochemistry of Soft Tissue and Bone Tumors: An Update on Biomarkers That Correlate with Molecular Alterations

Diagnostics ◽  
2021 ◽  
Vol 11 (4) ◽  
pp. 690
Author(s):  
William J. Anderson ◽  
Vickie Y. Jo
Keyword(s):  
Soft Tissue ◽  
Molecular Genetic ◽  
Bone Neoplasms ◽  
Aberrant Methylation ◽  
Single Nucleotide Variants ◽  
Molecular Alterations ◽  
Molecular Events ◽  
Diagnosis And Classification ◽  
Genetic Techniques ◽  
Tumor Types

The diagnosis of benign and malignant soft tissue and bone neoplasms is a challenging area of surgical pathology, due to the large number, rarity, and histologic diversity of tumor types. In recent years, diagnosis and classification has been aided substantially by our growing understanding of recurrent molecular alterations in these neoplasms. Concurrently, the role of diagnostic immunohistochemistry has also expanded, with the development of numerous biomarkers based on underlying molecular events. Such biomarkers allow us to infer the presence of these events and can therefore substitute for other ancillary molecular genetic techniques (e.g., fluorescence in situ hybridization, polymerase chain reaction, and next-generation sequencing). In this review, we discuss a range of biomarkers currently available for these neoplasms, highlighting the accuracy, staining characteristics, and interpretation pitfalls of each antibody. These include immunohistochemical antibodies that represent reliable surrogates for the detection of gene fusions (e.g., STAT6, CAMTA1, FOSB, DDIT3) and more recently described breakpoint-specific antibodies (e.g., SS18-SSX, PAX3/7-FOXO1). Additionally, discussed are markers that correlate with the presence of gene amplifications (e.g., MDM2, CDK4), deletions (e.g., SMARCB1, SMARCA4), single nucleotide variants (e.g., G34W, K36M), aberrant methylation (H3K27me3), and increased expression as discovered through gene expression profiling (e.g., MUC4, DOG1, ETV4, NKX2.2, NKX3.1).

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.

Application of Immunohistochemistry to Soft Tissue Neoplasms

2008 ◽  
Vol 132 (3) ◽  
pp. 476-489 ◽  
Author(s):  
Josefine Heim-Hall ◽  
Sophia L. Yohe
Keyword(s):  
Soft Tissue ◽  
Rapid Development ◽  
Molecular Genetic ◽  
Cell Lineage ◽  
Soft Tissue Tumors ◽  
Specific Cell ◽  
Round Cell ◽  
Diagnostic Challenge ◽  
Important Diagnostic Tool ◽  
Genetic Techniques

Abstract Context.—Soft tissue tumors are composed of numerous and complex diagnostic entities. Because of this complexity and the recognition of an intermediate malignancy category including some tumors with a deceptively bland histologic appearance, soft tissue tumors may represent a major diagnostic challenge to the general practicing pathologist. Objective.—To correctly diagnose soft tissue tumors with the ancillary use of immunohistochemistry. Data Sources.—Review of the current literature with emphasis on those tumors for which immunohistochemistry has proven to be particularly useful. Conclusions.—Immunohistochemistry plays an important role in the diagnosis of soft tissue tumors. One of its major utilities is to correctly identify a tumor as being of mesenchymal or nonmesenchymal origin. Once mesenchymal origin has been established, histologic subtyping according to specific cell lineage may be achieved with the use of lineage-specific markers. Tumors of uncertain cell lineage and tumors with primitive small round cell morphology are often characterized by a unique immunohistochemical phenotype. In this group of tumors, immunohistochemistry is most widely applied and is of greatest value. Despite the rapid development of molecular genetic techniques, immunohistochemistry still remains the most important diagnostic tool in the diagnosis of soft tissue tumors aside from recognition of morphologic features and clinical correlation.

Cytogenetic and molecular genetic techniques as adjunctive approaches in the diagnosis of bone and soft tissue tumors

2000 ◽  
Vol 29 (5) ◽  
pp. 249-258 ◽  
Author(s):  
J. A. Bridge ◽  
A. A. Sandberg
Keyword(s):  
Soft Tissue ◽  
Molecular Genetic ◽  
Soft Tissue Tumors ◽  
Genetic Techniques

scholarly journals Prospects for the Personalized Multimodal Therapy Approach to Pain Management via Action on NO and NOS

Molecules ◽  
2021 ◽  
Vol 26 (9) ◽  
pp. 2431
Author(s):  
Natalia A. Shnayder ◽  
Marina M. Petrova ◽  
Tatiana E. Popova ◽  
Tatiana K. Davidova ◽  
Olga P. Bobrova ◽  
...  
Keyword(s):  
Chronic Pain ◽  
Molecular Genetic ◽  
Pain Syndrome ◽  
Medical Problem ◽  
Single Nucleotide Variants ◽  
Genetic Studies ◽  
Pain Syndromes ◽  
Nos Inhibitors ◽  
Peripheral Pain

Chronic pain syndromes are an important medical problem generated by various molecular, genetic, and pathophysiologic mechanisms. Back pain, neuropathic pain, and posttraumatic pain are the most important pathological processes associated with chronic pain in adults. Standard approaches to the treatment of them do not solve the problem of pain chronicity. This is the reason for the search for new personalized strategies for the prevention and treatment of chronic pain. The nitric oxide (NO) system can play one of the key roles in the development of peripheral pain and its chronicity. The purpose of the study is to review publications devoted to changes in the NO system in patients with peripheral chronical pain syndromes. We have carried out a search for the articles published in e-Library, PubMed, Oxford Press, Clinical Case, Springer, Elsevier, and Google Scholar databases. The search was carried out using keywords and their combinations. The role of NO and NO synthases (NOS) isoforms in peripheral pain development and chronicity was demonstrated primarily from animal models to humans. The most studied is the neuronal NOS (nNOS). The role of inducible NOS (iNOS) and endothelial NOS (eNOS) is still under investigation. Associative genetic studies have shown that single nucleotide variants (SNVs) of NOS1, NOS2, and NOS3 genes encoding nNOS, iNOS, and eNOS may be associated with acute and chronic peripheral pain. Prospects for the use of NOS inhibitors to modulate the effect of drugs used to treat peripheral pain syndrome are discussed. Associative genetic studies of SNVs NOS1, NOS2, and NOS3 genes are important for understanding genetic predictors of peripheral pain chronicity and development of new personalized pharmacotherapy strategies.

scholarly journals Integrative ‘Omic’ Approach Towards Understanding the Nature of Human Diseases

2012 ◽  
Vol 15 (Supplement) ◽  
pp. 45-50 ◽  
Author(s):  
Borut Peterlin ◽  
A Maver
Keyword(s):  
Large Body ◽  
Experimental Information ◽  
Cellular Level ◽  
Human Diseases ◽  
Sequence Information ◽  
Proteomic Profiling ◽  
Disease Etiology ◽  
Complete Representation ◽  
Molecular Alterations ◽  
Molecular Events

ABSTRACT The combination of improving technologies for molecular interrogation of global molecular alterations in human diseases along with increases in computational capacity, have enabled unprecedented insight into disease etiology, pathogenesis and have enabled new possibilities for biomarker development. A large body of data has accumulated over recent years, with a most prominent increase in information originating from genomic, transcriptomic and proteomic profiling levels. However, the complexity of the data made discovery of highorder disease mechanisms involving various biological layers, difficult, and therefore required new approaches toward integration of such data into a complete representation of molecular events occurring on cellular level. For this reason, we developed a new mode of integration of results coming from heterogeneous origins, using rank statistics of results from each profiling level. Due to the increased use of nextgeneration sequencing technology, experimental information is becoming increasingly more associated to sequence information, for which reason we have decided to synthesize the heterogeneous results using the information of their genomic position. We therefore propose a novel positional integratomic approach toward studying ‘omic’ information in human disease.

scholarly journals Rare Renal Disease in Macedonia – An Update

PRILOZI ◽  
2017 ◽  
Vol 38 (3) ◽  
pp. 63-69
Author(s):  
Velibor Tasic ◽  
Zoran Gucev ◽  
Momir Polenakovic
Keyword(s):  
New England ◽  
Health Professionals ◽  
Molecular Genetic ◽  
Current Status ◽  
Renal Diseases ◽  
Treatment Interventions ◽  
New Genes ◽  
Appropriate Treatment ◽  
Genetic Techniques ◽  
Unites States

Abstract Rare renal diseases (RRD) are an important category of rare disease (RD) as they can do great damage to the patients, families and society. The patient may undergo years even decades of numerous investigations including invasive procedures and yet not have definitive and precise diagnose and therefore, no opportunity for appropriate treatment. The great progress in molecular genetic techniques characterized many Mendelian diseases on molecular level. This gave the possibility for appropriate prevention and treatment interventions, genetic counseling and prenatal diagnosis. Herein, we summarize the current status of RRD in Macedonia. The research interest of Macedonian clinicians and scientists is focused on the genetics of congenital anomalies of the kidney and urinary tract (CAKUT), steroid resistant nephrotic syndrome, nephrolithiasis and nephrocalcinosis, cystic diseases and cilliopathies with collaborations with eminent laboratories in Unites States and Europe. This collaboration resulted in detection of new genes and pathophysiological pathways published in The New England Journal of Medicine and in other high impact journals. Macedonian health professionals have knowledge and equipment for diagnosis of RRD. Unfortunately the lack of finances is great obstacle for early and appropriate diagnosis. Participation in the international registries, studies and trials should be encouraged. This would result in significant benefit for the patients, health professionals and science.

Appraisal of molecular genetic techniques in fisheries

1995 ◽  
pp. 29-54 ◽  
Author(s):  
Robert D. Ward ◽  
Peter M. Grewe
Keyword(s):  
Molecular Genetic ◽  
Genetic Techniques

Molecular Genetic Techniques for Algal Bioengineering

2015 ◽  
pp. 155-171 ◽  
Author(s):  
Kenan Jijakli ◽  
Rasha Abdrabu ◽  
Basel Khraiwesh ◽  
David R. Nelson ◽  
Joseph Koussa ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Genetic Techniques

Behavior and Molecular Genetics of the Five Factor Model

2015 ◽  
Author(s):  
Amber M. Jarnecke ◽  
Susan C. South
Keyword(s):  
Molecular Genetics ◽  
Behavior Genetics ◽  
Factor Model ◽  
Five Factor Model ◽  
Molecular Genetic ◽  
Future Directions ◽  
Genetics Research ◽  
Genetic Mechanisms ◽  
Genetic Techniques ◽  
Related Personality

Behavior and molecular genetics informs knowledge of the etiology, structure, and development of the Five Factor Model (FFM) of personality. Behavior genetics uses quantitative modeling to parse the relative influence of nature and nurture on phenotypes that vary within the population. Behavior genetics research on the FFM has demonstrated that each domain has a heritability (proportion of variation due to genetic influences) of 40–50%. Molecular genetic methods attempt to identify specific genetic mechanisms associated with personality variation. To date, findings from molecular genetics are tentative, with significant results failing to replicate and accounting for only a small percentage of the variance. However, newer techniques hold promise for finding the “missing heritability” of FFM and related personality domains. This chapter presents an overview of commonly used behavior and molecular genetic techniques, reviews the work that has been done on the FFM domains and facets, and offers a perspective for future directions.

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