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Rare dual MYH9-ROS1 fusion variants in a patient with lung adenocarcinoma: A case report.
Medicine (Baltimore)
January 2025
Department of Respiratory and Critical Care Medicine, Zhongshan City People's Hospital, Zhongshan, Guangdong Province, China.
Rationale: ROS proto-oncogene 1 (ROS1) fusion is a rare but important driver mutation in non-small cell lung cancer, which usually shows significant sensitivity to small molecule tyrosine kinase inhibitors. With the widespread application of next-generation sequencing (NGS), more fusions and co-mutations of ROS1 have been discovered. Non-muscle myosin heavy chain 9 (MYH9) is a rare fusion partner of ROS1 gene as reported.
View Article and Find Full Text PDFThree cases of hemoglobin M disease in a family lineage: Case report and literature review.
Medicine (Baltimore)
January 2025
Department of Pediatric Hematology, Children's Medical Center, The First Hospital of Jilin University, Changchun, China.
Rationale: This study presents a case of hemoglobin M disease (HMD), a rare inherited disorder characterized by persistent cyanosis and hypoxemia, observed across 3 generations within a single family. The diagnosis of HMD poses significant challenges, particularly in asymptomatic individuals, due to its rarity and the subtlety of its symptoms. Notably, there is a scarcity of reports on methemoglobinemia in pediatric populations, which further complicates early detection and intervention.
View Article and Find Full Text PDFAssociations between 25-hydroxyvitamin D/calcium/alkaline phosphatase levels and the risk of developing kidney stones: Results from NHANES (2013-2018)-based and Mendelian randomization studies.
Medicine (Baltimore)
January 2025
Department of Urology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, People's Republic of China.
This study explores the relationship between 25-hydroxyvitamin D/calcium/alkaline phosphatase (ALP) levels and kidney stone development via cross-sectional and Mendelian randomization (MR) analyses. We used data from the National Health and Nutrition Examination Survey (NHANES) 2013 to 2018 to explore the associations of 25(OH)D metabolite, calcium, and ALP levels with kidney stone development, LDSC analysis to determine the associations between their genetically predicted levels and kidney stone development, and MR analysis to determine the causality of those relationship via genome-wide association studies (GWASs). The cross-sectional study revealed a relationship between ALP levels and kidney stone development (Model 1: OR = 1.
View Article and Find Full Text PDFConstruction of a prognostic signature based on T-helper 17 cells differentiation-related genes for predicting survival and tumor microenvironment in head and neck squamous cell carcinoma.
Medicine (Baltimore)
January 2025
Department of Otolaryngology, Hangzhou Red Cross Hospital (Zhejiang Hospital of Integrated Traditional Chinese and Western Medicine), Hangzhou, Zhejiang, China.
T-helper 17 (Th17) cells significantly influence the onset and advancement of malignancies. This study endeavor focused on delineating molecular classifications and developing a prognostic signature grounded in Th17 cell differentiation-related genes (TCDRGs) using machine learning algorithms in head and neck squamous cell carcinoma (HNSCC). A consensus clustering approach was applied to The Cancer Genome Atlas-HNSCC cohort based on TCDRGs, followed by an examination of differential gene expression using the limma package.
View Article and Find Full Text PDFGenomic Characterization and Prognostic Significance of Human Epidermal Growth Factor Receptor 2-Low, Hormone Receptor-Positive, Early Breast Cancers From the BIG 1-98 and SOFT Clinical Trials.
JCO Precis Oncol
January 2025
Department of Medical Oncology, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
Purpose: To investigate whether hormone receptor-positive, human epidermal growth factor receptor 2-low (HR+HER2-low) versus HR+HER2-zero early breast cancers have distinct genomic and clinical characteristics.
Methods: This study included HR+, HER2-negative early breast cancers from patients enrolled in the phase III, randomized BIG 1-98 and SOFT clinical trials that had undergone tumor genomic sequencing. Tumors were classified HR+HER2-low if they had a centrally reviewed HER2 immunohistochemistry (IHC) score of 1+ or 2+ with negative in situ hybridization and HR+HER2-zero if they had an HER2 IHC score of 0.
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