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Next-generation sequencing (NGS) cancer profiling has gained traction in routine clinical practice in South Korea. Here, we evaluated the use of NGS testing and genomically-matched therapies for patients with advanced solid tumors in a real-world clinical practice. We analyzed results from NGS cancer panel tests (SNUBH pan-cancer version 2) ordered from June 2019 to June 2020. Genomically-matched treatment was determined based on the novel information obtained from NGS testing, while results from conventional molecular tests were excluded. A total of 990 patients were included in the analysis (median age: 62, Stage IV: 82.5%). Using the Association for Molecular Pathology genetic variant classification system, we found that 257 (26.0%) patients harbored tier I variants, and 859 (86.8%) patients carried tier II variants. Among the tier I cases, the most frequently altered genes we detected were KRAS (106 patients, 10.7%), followed by EGFR (27 patients, 2.7%) and BRAF (17 patients, 1.7%). Of patients with tier I variants, 13.7% received NGS-based therapy as follows: Thyroid cancer (2/7, 28.6%), skin cancer (2/8, 25.0%), gynecologic cancer (7/65, 10.8%), and lung cancer (12/112, 10.7%). Of 32 patients with measurable lesions who received NGS-based therapy, 12 (37.5%) achieved a partial response, and 11 (34.4%) achieved stable disease. The median treatment duration was 6.4 months (95% CI, 4.4-8.4), and the median OS was not reached. In conclusion, NGS tumor profiling was successfully implemented in real-world clinical practice. This enabled the use of molecular profiling-guided therapy which improved survival outcome of selected patients.
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http://dx.doi.org/10.1038/s41598-024-84909-9 | DOI Listing |
Int J Gynaecol Obstet
September 2025
Department of Gynecology and Obstetrics, Justus Liebig University Giessen, Giessen, Germany.
Even though uterine fibroids are a widespread condition, the range of approved medical treatment options remains limited. In fact, only a few drugs are officially approved for the therapy of fibroids. In both the USA and the European Medicines Agency region, selected gonadotropin-releasing hormone (GnRH) antagonists have been approved for this indication.
View Article and Find Full Text PDFAlzheimers Dement
September 2025
Department of Neurology, Beijing TianTan Hospital, Capital Medical University, Beijing, China.
Cognitive impairment and dementia, including Alzheimer's disease (AD), pose a global health crisis, necessitating non-invasive biomarkers for early detection. This review highlights the retina, an accessible extension of the central nervous system (CNS), as a window to cerebral pathology through structural, functional, and molecular alterations. By synthesizing interdisciplinary evidence, we identify retinal biomarkers as promising tools for early diagnosis and risk stratification.
View Article and Find Full Text PDFInt J Dermatol
September 2025
Dermatology Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Introduction: Cutaneous scalp metastases from breast carcinoma (CMBC) represent an uncommon manifestation of metastatic disease, with heterogeneous clinical presentations, including nodular or infiltrative lesions and scarring alopecia (alopecia neoplastica). The absence of standardized diagnostic criteria, particularly for alopecic phenotypes, poses challenges to early recognition of CMBC, which may represent either the first indication of neoplastic progression or a late recurrence.
Materials And Methods: We retrospectively analyzed a multicenter cohort of 15 patients with histologically confirmed CMBC.
Dan Med J
August 2025
Department of Cardiology, Copenhagen University Hospital - Bispebjerg and Frederiksberg Hospital.
Introduction: Cardiac amyloidosis is an underdiagnosed disease, and its prevalence is probably higher than previously estimated. We aimed to investigate the effect of introducing a systemic diagnostic algorithm for cardiac amyloidosis in clinical practice.
Methods: A systematic diagnostic algorithm was developed and clinically applied in two hospitals in Eastern Denmark.