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Targeted Next-Generation Sequencing of Cell-Free DNA to Detect -Immunoglobulin Translocation and Epstein-Barr Virus DNA in Plasma of Burkitt Lymphoma Patients in East Africa.
JCO Glob Oncol
January 2025
University of Oxford, Oxford, United Kingdom.
Purpose: Epstein-Barr virus (EBV)-positive Burkitt lymphoma (BL) affects children in sub-Saharan Africa, but diagnosis via tissue biopsy is challenging. We explored a liquid biopsy approach using targeted next-generation sequencing to detect the -immunoglobulin (-Ig) translocation and EBV DNA, assessing its potential for minimally invasive BL diagnosis.
Materials And Methods: The panel included targets for the characteristic -Ig translocation, mutations in intron 1 of , mutations in exon 2 of , and three EBV genes: EBV-encoded RNA (EBER)1, EBER2, and EBV nuclear antigen 2.
High-Risk MCL: Recognition and Treatment.
Blood
December 2024
The University of Texas M.D. Anderson Cancer Center, Houston, Texas, United States.
Significant progress in determining the molecular origins and resistance mechanisms of mantle cell lymphoma (MCL) has improved our understanding of the disease's clinical diversity. These factors greatly impact prognosis in MCL patients. Given the dynamic alterations in MCL clones and disease evolution, it is crucial to recognize high-risk prognostic factors at diagnosis and relapse.
View Article and Find Full Text PDFα-Catenin force-sensitive binding and sequestration of LZTS2 leads to cytokinesis failure.
J Cell Biol
March 2025
Department of Pulmonary Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Epithelial cells can become polyploid upon tissue injury, but mechanosensitive cues that trigger this state are poorly understood. Using an Madin Darby Canine Kidney (MDCK) cell knock-out/reconstitution system, we show that α-catenin mutants that alter force-sensitive binding to F-actin or middle (M)-domain promote cytokinesis failure and binucleation, particularly near epithelial wound-fronts. We identified Leucine Zipper Tumor Suppressor 2 (LZTS2), a factor previously implicated in abscission, as a conformation sensitive proximity partner of α-catenin.
View Article and Find Full Text PDFLong-read structural and epigenetic profiling of a kidney tumor-matched sample with nanopore sequencing and optical genome mapping.
NAR Genom Bioinform
March 2025
School of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University, 6997801 Tel Aviv, Israel.
Carcinogenesis often involves significant alterations in the cancer genome, marked by large structural variants (SVs) and copy number variations (CNVs) that are difficult to capture with short-read sequencing. Traditionally, cytogenetic techniques are applied to detect such aberrations, but they are limited in resolution and do not cover features smaller than several hundred kilobases. Optical genome mapping (OGM) and nanopore sequencing [Oxford Nanopore Technologies (ONT)] bridge this resolution gap and offer enhanced performance for cytogenetic applications.
View Article and Find Full Text PDFPotentially actionable molecular alterations in particular related to poor oncologic outcomes in salivary gland carcinomas.
BMC Cancer
January 2025
Department of Tumor Biology and Genetics, Medical University of Warsaw, Warsaw, Poland.
Aim: The study was designed to evaluate molecular alterations, relevant to the prognosis and personalized therapy of salivary gland cancers (SGCs).
Materials And Methods: DNA was extracted from archival tissue of 40 patients with various SGCs subtypes. A targeted next-generation sequencing (NGS) panel was used for the identification of small-scale mutations, focal and chromosomal arm-level copy number changes.
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