Background: The advancement of cancer genomics has allowed for multiplex gene assays using next-generation sequencing (NGS) to be practically implemented, however, a clinical practice system remains to be established.
Objective: We evaluated the feasibility of clinical sequencing using NGS-based multiplex gene assays between cooperating medical institutions in patients with advanced cancers.
Methods: In this observational study, DNA and RNA samples prepared from existing tumor tissues were subjected to comprehensive genomic profiling using targeted sequencing.
Results: From January 2017 to March 2019, 36 samples from 33 patients were assessed. Of all patients, 27 (82%) had lung cancer, with the median age of 50 years (range 38-83). Multiplex gene panel tests were successfully carried out on 35/36 (97%) samples. Potentially actionable gene alterations were identified in 10/30 (33%) samples (3 HER2, 2 KRAS, 2 ALK, 1 PIK3CA, 1 RET, and 1 CDKN2A). In the 6 samples examined for resistant mechanisms, ALK I1171N mutation and MET copy number gain were detected in 2 patients with ALK rearrangement-positive lung cancer.
Conclusions: Clinical sequencing using NGS-based multiplex gene assays between collaborating domestic medical institutions was feasible, with a success rate of > 97%. Overall, clinical sequencing benefits therapeutic decision-making in patients with advanced cancer.
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http://dx.doi.org/10.3233/CBM-200781 | DOI Listing |
Eur J Neurosci
March 2025
School of Psychology, University of Auckland, Auckland, New Zealand.
The aim of the study was to determine the test-retest reliability of MMN and LDN recorded to simple speech contrasts in children with listening difficulties. MMN and LDN responses were recorded from Fz and Cz electrodes for a /da/-/ga/ contrast twice within a 10-day period. To extract MMN and LDN, auditory-evoked responses to /ga/ stimuli presented alone were subtracted from the responses to /ga/ presented within an oddball sequence.
View Article and Find Full Text PDFJ Cell Mol Med
March 2025
Center for Reproductive Medicine, Zhongnan Hospital of Wuhan University, Wuhan, Hubei, People's Republic of China.
Joubert syndrome (JS) is a rare neurodevelopmental disorder associated with mutations in genes involved in ciliary function. Germline variants in CPLANE1 have been implicated in JS. In this study, we investigated a family with three adverse pregnancies characterised by fetal malformations consistent with JS.
View Article and Find Full Text PDFJ World Fed Orthod
March 2025
Assistant professor, State Key Laboratory of Military Stomatology and National Clinical Research Center for Oral Diseases and Shaanxi Clinical Research Center for Oral Diseases, Department of Orthodontics, School of Stomatology, The Fourth Military Medical University, Xi'an, China. Electronic address:
A 15-year-old female sought multidisciplinary treatment for hypodontia, three-dimensional problems, deep overbite, multiple occlusal interferences, and collapse of the occlusion. Through virtual-digital design with objective decomposition, this patient underwent five steps of orthodontic treatment under the guidelines of the principles: removal of occlusal restriction is a prerequisite; transverse problems are solved first; then sagittal problems; and vertical correction runs through the treatment. After orthodontic and prosthetic treatment, aesthetic appearance and functional occlusion were achieved.
View Article and Find Full Text PDFJ Gastroenterol Hepatol
March 2025
Department of Radiology, Yunnan Cancer Center, Yunnan Cancer Hospital, The Third Affiliated Hospital of Kunming Medical University, Kunming, China.
This review provides an in-depth exploration of the evolving role of immunotherapy in gastrointestinal (GI) cancers, with a particular focus on immune checkpoint inhibitors (ICIs) and their associated predictive biomarkers. We present a detailed analysis of established biomarkers, such as PD-L1, microsatellite instability (MSI), tumor mutational burden (TMB), and the tumor microenvironment (TME), as well as emerging biomarkers, including gut microbiota and Epstein-Barr virus (EBV). The predictive value of these biomarkers in guiding clinical decision-making and optimizing immunotherapy outcomes is thoroughly discussed.
View Article and Find Full Text PDFJ Appl Microbiol
March 2025
Department of Pharmacology and Clinical Pharmacy, School of Pharmacy, College of Health Science, Addis Ababa University, P.O.Box 9086, Addis Ababa, Ethiopia.
Aims: Mycobacterium tuberculosis (Mtb) remains a major global health challenge, particularly due to increasing drug resistance. Beyond the well-characterized mutations, the mechanisms involved in driving resistance appear to be more complex. This study investigated the differential gene expression of Ethiopian drug-resistant Mtb sub-lineage 4.
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