Research advances in tumor diagnosis and early detection DOI Open Access

Rodney Bradly

Asia-Pacific Journal of Oncology, Journal Year: 2024, Volume and Issue: unknown, P. 55 - 65

Published: Sept. 13, 2024

This review explores recent advances in tumor diagnosis and early detection, focusing on cutting-edge developments molecular diagnostic technologies, imaging techniques, the integration of multi-omics data. Current methods have limitations terms sensitivity specificity, particularly for detection. However, with continuous progress research emerging especially advent liquid biopsy, which enables detection circulating DNA (ctDNA), exosomes, tumor-educated platelets (TEPs), accuracy cancer significantly improved. Moreover, combined application artificial intelligence high-resolution technology has enhanced precision diagnosis. Despite these advances, challenges, such as high cost difficulties data integration, continue to impede widespread clinical adoption. Therefore, I believe that future should prioritize innovation technologies improve their applicability across various types, ultimately contributing advancement personalized therapy.

Language: Английский

Knowledge of the genetics of human pain gained over the last decade from next-generation sequencing DOI Creative Commons
Dario Kringel, Jörn Lötsch

Pharmacological Research, Journal Year: 2025, Volume and Issue: unknown, P. 107667 - 107667

Published: Feb. 1, 2025

Language: Английский

Citations

0
Molecular characterization of colorectal cancer (CRC) using next generation sequencing (NGS) in bridging the gap between research and clinical practice: from biomarker discovery to clinical implementation DOI Creative Commons
Hafeez Abiola Afolabi, Md Salzihan Md Salleh,

Zaidi Zakaria

et al.

Discover Oncology, Journal Year: 2025, Volume and Issue: 16(1)

Published: March 6, 2025

Colorectal cancer (CRC) is the second most common in men and third females, a heterogeneous disease involving multistep mechanisms that represents 10% of all cancers globally. This study investigates gene mutation profiling CRC using Next-Generation sequencing machine. Formalin-fixed paraffin-embedded tissues 30 patients were retrieved reviewed. DNA was isolated from selected tissues. Desirable quality check Qubit Nanoquant machine done, desirable libraries prepared loaded into sequencer for sequencing. Using Illumina BaseSpace Variant interpreter, generated FastQ data treated annotation, alignment, mapping with reference genome. Sequencing-runs Phred-score ≥ as runs. Finally, variants validated on NCBI-dsSNP Ensembl databases clinical consequence interpretations. Overall, patient distribution consists 12(40%) females 18 (60%) males mean age (53.2 + 5.3). TNM stage-3: 53.3% (15/30) least Stage-4: 20%(6/30) respectively. 73.3%: (22/30) completed sequencing, 552 mutations 29 genes 12 chromosomes detected. The upregulated are KIT:68(12.3%), FGFR4:61(11.1%), EGFR:60(10.9%), ALK:53(9.6%), DCUN1D1:41(7.4%), PDGFR:40(7.2%), KRAS:33(6.0%), CDK4:27(4.9%), FGFR3:26(4.7%), MTOR:14(2.6), while NRAS, CDK6, PIK3CA, RET each has 13(2.4%) apiece. Chromosomes 4:134/55(24.2%), chr7:84/552(15.2%), chr12:71/552(12.9%), chr5:64/552(11.6%), chr2:61/552(11.1%), chr3:54/552(9.8%), chr1:43/552(7.8%) involved chromosomes. Nine (APC, ALK, KRAS, IDH1, FGFR1, ERBB2, ESR1) identified pathogenic-causing CRC. first NGS-based molecular FFPE-CRC hospital-USM showed nine crucial pathogenic variants.

Language: Английский

Citations

0
Next-generation sequencing guides diagnosis and treatment in a complex presentation of ALK-positive anaplastic large-cell lymphoma: a case report DOI Creative Commons
Tejasvini Vaid, Thomas S. Gunning, Rachel Cohen

et al.

Frontiers in Oncology, Journal Year: 2025, Volume and Issue: 15

Published: March 14, 2025

Next-generation sequencing (NGS) technology is being increasingly utilized in the management of cancer patients due to its diagnostic, therapeutic, and prognostic value, potential inform use targeted therapy. We report a case wherein performing NGS testing proved be critical component diagnosis therapeutic decision making. The was patient who presented with diffuse osteolytic bone lesions that on biopsy showed an undifferentiated malignancy. A poorly differentiated sarcoma made at outside institution carboplatin paclitaxel initiated. However, revealed TRAF1::ALK translocation, which led revised stage IV ALK-positive anaplastic large cell lymphoma (ALCL), curable cancer. then started treatment brentuximab vedotin, cyclophosphamide, doxorubicin, etoposide, prednisone followed by autologous stem transplantation consolidation, given very extensive disease presentation. She remains continued complete remission 28 months. In this case, essential establishing correct selection therapy high-risk ALCL. should routine oncology workup complement standard diagnostic modalities.

Language: Английский

Citations

0
Advancing Precision Medicine: The Role of Genetic Testing and Sequencing Technologies in Identifying Biological Markers for Rare Cancers DOI Creative Commons

Joviana Farhat,

Lara Alzyoud, Mohammad Alwahsh

et al.

Cancer Medicine, Journal Year: 2025, Volume and Issue: 14(8)

Published: April 1, 2025

ABSTRACT Background Genetic testing and sequencing technologies offer a comprehensive understanding of cancer genetics, providing rapid cost‐effective solutions. In particular, these advanced play an important role in assessing the complexities rare types affecting several systems including bone, endocrine, digestive, vascular, soft tissue. This review will explore how genetic have contributed to identification biomarkers across diagnostic, therapeutic, prognostic stages, thereby advancing PM. Methods A literature search was conducted PubMed (MEDLINE), EMBASE, Web Science using keywords related technologies, testing, cancer. There were no restrictions on language, methodology, age, or publication date. Both primary secondary research involving humans animals considered. Results practice, fluorescence situ hybridization, karyotype, microarrays other tests are mainly applied identify specific alterations mutations associated with progression. Sequencing such as next generation sequencing, polymerase chain reaction, whole genome exome enable analysis millions DNA fragments. These techniques assess structure, changes, gene expression profiles, epigenetic variations. Consequently, they help detect main intrinsic markers that crucial for personalizing diagnosis, treatment options, assessments, leading better patient prognosis. highlights why methods now considered tools research. However, still face multiple limitations, false positive results, limited precision, high costs. Conclusion significantly field by enabling key precision treatment, Despite existing their integration into clinical fields continues improve development personalized medicine strategies complex types.

Language: Английский

Citations

0
Advancements in pathology: Digital transformation, precision medicine, and beyond DOI Creative Commons

S. Ahuja,

Sufian Zaheer

Journal of Pathology Informatics, Journal Year: 2024, Volume and Issue: 16, P. 100408 - 100408

Published: Nov. 19, 2024

Pathology, a cornerstone of medical diagnostics and research, is undergoing revolutionary transformation fueled by digital technology, molecular biology advancements, big data analytics. Digital pathology converts conventional glass slides into high-resolution images, enhancing collaboration efficiency among pathologists worldwide. Integrating artificial intelligence (AI) machine learning (ML) algorithms with improves diagnostic accuracy, particularly in complex diseases like cancer. Molecular pathology, facilitated next-generation sequencing (NGS), provides comprehensive genomic, transcriptomic, proteomic insights disease mechanisms, guiding personalized therapies. Immunohistochemistry (IHC) plays pivotal role biomarker discovery, refining classification prognostication. Precision medicine integrates pathology's findings individual genetic, environmental, lifestyle factors to customize treatment strategies, optimizing patient outcomes. Telepathology extends services underserved areas through remote pathology. Pathomics leverages analytics extract meaningful from advancing our understanding therapeutic targets. Virtual autopsies employ non-invasive imaging technologies revolutionize forensic These innovations promise earlier diagnoses, tailored treatments, enhanced care. Collaboration across disciplines essential fully realize the transformative potential these advancements practice research.

Language: Английский

Citations

3
Research advances in tumor diagnosis and early detection DOI Open Access

Rodney Bradly

Asia-Pacific Journal of Oncology, Journal Year: 2024, Volume and Issue: unknown, P. 55 - 65

Published: Sept. 13, 2024

This review explores recent advances in tumor diagnosis and early detection, focusing on cutting-edge developments molecular diagnostic technologies, imaging techniques, the integration of multi-omics data. Current methods have limitations terms sensitivity specificity, particularly for detection. However, with continuous progress research emerging especially advent liquid biopsy, which enables detection circulating DNA (ctDNA), exosomes, tumor-educated platelets (TEPs), accuracy cancer significantly improved. Moreover, combined application artificial intelligence high-resolution technology has enhanced precision diagnosis. Despite these advances, challenges, such as high cost difficulties data integration, continue to impede widespread clinical adoption. Therefore, I believe that future should prioritize innovation technologies improve their applicability across various types, ultimately contributing advancement personalized therapy.

Language: Английский

Citations

0