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Life-threatening Lymphatic Malformation With Somatic Activating NRAS Mutation Successfully Treated With Trametinib: A Case Study.
J Pediatr Hematol Oncol
January 2025
Cook Children's Medical Center, Fort Worth, TX.
Kaposiform lymphangiomatosis (KLA) is a rare and aggressive subtype of complex lymphatic anomalies (CLA), characterized by abnormal lymphatic proliferation leading to distinct clinical manifestations. Despite the complexity of this condition, there is no established standard therapy, and treatment options such as sclerotherapy, laser therapy, and surgery remain variably effective and are limited to symptom management rather than curative. Sirolimus, an mTOR pathway inhibitor, has shown promise as a primary therapy, particularly in patients without a driver mutation.
View Article and Find Full Text PDFComparative genomic analysis unveiling the mutational landscape associated with premalignant lesions and early-stage gastric cardia cancer.
Medicine (Baltimore)
January 2025
Department of Endoscopy, The Fourth Hospital of Hebei Medical University, Shijiazhuang, China.
This study enrolled 10 patients diagnosed with premalignant lesions and early-stage gastric cardia adenocarcinoma (GCA), confirmed through endoscopic examination. These patients were subjected to next-generation sequencing (NGS) using a customized 1123-gene panel to identify genetic alterations and signaling pathways. The results were compared to stage IIB to IV GCA samples from the cancer genome atlas (TCGA) and a cohort of Hong Kong patients.
View Article and Find Full Text PDFComplete Genome Characterization of Canine Adenovirus From Türkiye With Next-Generation Sequencing.
Vet Med Sci
January 2025
Department of Genetics, Faculty of Veterinary Medicine, Yozgat Bozok University, Yozgat, Türkiye.
Background: Determining the complete genome sequence data of adenoviruses has recently become greatly important due to their use by scientists as vectors in cancer studies and other fields, including vaccine development. However, the GenBank database currently has few complete genome sequences of adenoviruses, which are known for their large genomes. To address this gap, we analysed next-generation sequencing data obtained from our previous study to provide the complete genome sequence of the canine adenovirus-2 strain.
View Article and Find Full Text PDFCharacterization of mint virus C, a new member of the genus Carlavirus.
Arch Virol
January 2025
Institute for Sustainable Plant Protection, CNR, Strada delle Cacce 73, 10135, Torino, Italy.
Here, we report the complete genome sequence of a new carlavirus causing mosaic on mint plants in Italy, which we have tentatively named "mint virus C" (MVC). Flexuous particles of around 600 nm were observed using transmission electron microscopy, and next-generation sequencing was performed to determine the nucleotide sequence of the MVC genome, which was found to be 8558 nt long, excluding the poly(A) tail, and shows the typical organization of a carlavirus. The putative proteins encoded by MVC are 44-56% identical to the closest matches in the NCBI database, suggesting that MVC should be considered a member of a new species in the genus Carlavirus.
View Article and Find Full Text PDFTargeted therapy has emerged as a promising option in cancer treatment, driven by advances in the understanding of DNA changes and the molecular basis of cancer. This article provides an overview of next-generation sequencing and types of genetic alterations, common cancer biomarkers, a review of circulating tumor DNA testing and its applications for oncology treatments, how to read a genomic testing report, examples of targeted therapy for cancer pathologic variants and tumor markers, and the implications for nursing practice in this emerging field.
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