The diagnosis of small cell lung carcinoma (SCLC) remains a great challenge. Changes in chromosome 3p (chr3) genes are usually observed in the pathogenesis of lung cancer, which suggests that these chr3 genes may be a diagnostic marker in the early stage of SCLC. The present study explored the diagnostic value of the chr3 gene in SCLC using Bioinformatics. Furthermore, reverse transcription-quantitative PCR (RT-qPCR) was used to reveal the expression patterns of diagnostic biomarkers in human pulmonary alveolar epithelial cells and in the SCLC cell line NCI-H146. A total of 33 differentially expressed (DE) chr3 genes and 1,156 module genes associated with clinical features of patients with SCLC were identified and functional enrichment analysis indicated that all these genes were significantly enriched in cell cycle terms. The area under the receiver operating characteristic curve demonstrated that the overlapping genes of the DE-chr3 and module genes, namely cell division cycle 25 A (CDC25A), FYVE and coiled-coil domain autophagy adaptor 1 (FYCO1) and lipid raft linker 1 (RFTN1), were relatively accurate in distinguishing normal from SCLC samples, and may thus be considered diagnostic biomarkers. CDC25A was overexpressed in SCLC samples, while FYCO1 and RFTN1 were highly expressed in normal samples, as evidenced by the RT-qPCR results. Single-gene gene set enrichment analysis suggested that the diagnostic biomarkers were significantly associated with cell cycle, ATP-binding cassette transporter, immune cell differentiation, immune response and multiple respiratory disease pathways. Furthermore, a total of 141 drugs were predicted by The Comparative Toxicogenomics Database to be able to modulate the expression of the diagnostic biomarkers, of which 8 drugs were shared among the three aforementioned diagnostic biomarkers. The present study identified three novel and powerful diagnostic biomarkers for SCLC based on chr3 genes. Suggestions for the development and selection of drugs for clinical treatment based on diagnostic biomarkers were also provided.
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http://dx.doi.org/10.3892/ol.2022.13330 | DOI Listing |
Pathology
December 2024
Department of Pathology, Amsterdam University Medical Centers/VUmc, Amsterdam, The Netherlands; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.
In the course of the last decade, the pathological diagnosis of many tumours of the central nervous system (CNS) has transitioned from a purely histological to a combined histological and molecular approach, resulting in a more precise 'histomolecular diagnosis'. Unfortunately, translation of this refinement in CNS tumour diagnostics into more effective treatment strategies is lagging behind. There is hope though that incorporating the assessment of predictive markers in the pathological evaluation of CNS tumours will help to improve this situation.
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University of Toronto Lupus Clinic, Centre for Prognosis Studies in Rheumatic Diseases, Toronto Western Hospital, Toronto, ON, Canada. Electronic address:
Lupus nephritis (LN) or renal involvement of systemic lupus erythematosus (SLE), is a common manifestation occurring in at least 50 % of SLE patients. LN remains a significant source of morbidity, often leading to progressive renal dysfunction and is a major cause of death in SLE. Despite these challenges, advances in the understanding of the pathogenesis and genetic underpinnings of LN have led to a commendable expansion in available treatments over the past decade.
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Department of Obstetrics and Gynecology, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil. Electronic address:
Preeclampsia (PE), a pregnancy-related syndrome, has motivated extensive research to understand its pathophysiology and develop early diagnostic methods. 'Omic' technologies, focusing on genes, mRNA, proteins, and metabolites, have revolutionized biological system studies. Urine emerges as an ideal non-invasive specimen for omics analysis, offering accessibility, easy collection, and stability, making it valuable for identifying biomarkers.
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School of Biosystem and Biomedical Science, College of Health Science, Korea University, Seoul, Republic of Korea; Department of Integrated Biomedical and Life Science, Korea University, Seoul, Republic of Korea; BK21FOUR R&E Center for Learning Health Systems, Korea University, Seoul, Republic of Korea; L-HOPE Program for Community-Based Total Learning Health Systems, Korea University, Seoul, Republic of Korea. Electronic address:
The advent of multiomics has ushered in a new era of cancer research characterized by integrated genomic, transcriptomic and proteomic analysis to unravel the complexities of cancer biology and facilitate the discovery of novel biomarkers. This chapter provides a comprehensive overview of the concept of multiomics, detailing the significant advances in the underlying technologies and their contributions to our understanding of cancer. It delves into the evolution of genomics and transcriptomics, breakthroughs in proteomics, and overarching progress in multiomic methodologies, highlighting their collective impact on cancer biomarker discovery.
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Center for Orphan Drug Research, Department of Experimental and Clinical Pharmacology, College of Pharmacy, University of Minnesota, Minneapolis, MN, United States. Electronic address:
Gaucher disease (GD) is a rare lysosomal disorder characterized by the accumulation of glycosphingolipids in macrophages resulting from glucocerebrosidase (GCase) deficiency. The accumulation of toxic substrates, which causes the hallmark symptoms of GD, is dependent on the extent of enzyme dysfunction. Accordingly, three distinct subtypes have been recognized, with type 1 GD (GD1) as the common and milder form, while types 2 (GD2) and 3 (GD3) are categorized as neuronopathic and severe.
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