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Clinical management of non-small cell lung cancer (NSCLC) requires accurate identification of tumor-specific genetic alterations to inform treatment options. Historically, providers have relied on single-gene testing (SGT) for actionable variants due to a perception of cost-effectiveness and/or efficient turnaround time compared to next-generation sequencing (NGS). However, not all actionable variants may be evaluated through SGT modalities, and an SGT approach can exhaust valuable tissue needed for more comprehensive analyses. In contrast, comprehensive genomic profiling (CGP) tests employ NGS to sequence megabases of DNA and RNA to evaluate all relevant molecular alterations, providing a broader genetic profile to identify actionable alterations that SGT may not accurately or efficiently assess. Here, we briefly describe four cases from a large reference laboratory in which actionable alterations were identified by CGP but not SGT. The discussion highlights the utility and advantages of using CGP to provide complete and timely treatment options and clinical trial opportunities for patients with NSCLC.
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http://dx.doi.org/10.3389/fonc.2024.1445668 | DOI Listing |
Microb Genom
September 2025
Department of Infectious Diseases and Public Health, Jockey Club College of Veterinary Medicine and Life Sciences, City University of Hong Kong, Hong Kong, PR China.
African swine fever virus (ASFV) is highly transmissible and can cause up to 100% mortality in pigs. The virus has spread across most regions of Asia and Europe, resulting in the deaths of millions of pigs. A deep understanding of the genetic diversity and evolutionary dynamics of ASFV is necessary to effectively manage outbreaks.
View Article and Find Full Text PDFBiochem Soc Trans
September 2025
Department of Biochemistry, McGill University, Montréal, QC, Canada.
The MET receptor tyrosine kinase is a pivotal regulator of cellular survival, motility, and proliferation. Mutations leading to skipping of exon 14 (METΔex14) within the juxtamembrane domain of MET impair receptor degradation and prolong oncogenic signaling, contributing significantly to tumor progression across multiple cancer types. METΔex14 mutations are associated with aggressive clinical behavior, therapeutic resistance, and poor outcomes.
View Article and Find Full Text PDFPLoS Genet
September 2025
MIVEGEC, University of Montpellier, CNRS, IRD, Montpellier, France.
Cytoplasmic Incompatibility (CI) causes embryonic lethality in arthropods, resulting in a significant reduction in reproductive success. In most cases, this reproductive failure is driven by Wolbachia endosymbionts through their cifA/cifB gene pair, whose products disrupts arthropod DNA replication during embryogenesis. While a cif pair has been considered a hallmark of Wolbachia, its presence and functional significance in other bacterial lineages remains poorly investigated.
View Article and Find Full Text PDFInt J Surg Pathol
September 2025
Department of Pathology, The Thirteenth People's Hospital of Chongqing, Chongqing, China.
Soft tissue sarcomas are a heterogeneous group of malignancies arising from mesenchymal cells. Recent advancements in genomic profiling have identified novel gene fusions in these tumors, offering new insights into their pathogenesis and potential therapeutic targets. Here, we describe a spindle cell sarcoma harboring a novel gene fusion.
View Article and Find Full Text PDFBioinformatics
September 2025
Department of Mathematical Sciences, The University of Texas at Dallas, TX United States.
Motivation: The advent of next-generation sequencing-based spatially resolved transcriptomics (SRT) techniques has reshaped genomic studies by enabling high-throughput gene expression profiling while preserving spatial and morphological context. Understanding gene functions and interactions in different spatial domains is crucial, as it can enhance our comprehension of biological mechanisms, such as cancer-immune interactions and cell differentiation in various regions. It is necessary to cluster tissue regions into distinct spatial domains and identify discriminating genes that elucidate the clustering result, referred to as spatial domain-specific discriminating genes (DGs).
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