Publications by authors named "Pablo Sanchez-Vela"
Cancer evolution is a multifaceted process leading to dysregulation of cellular expansion and differentiation through somatic mutations and epigenetic dysfunction. Clonal expansion and evolution is driven by cell-intrinsic and -extrinsic selective pressures, which can be captured with increasing resolution by single-cell and bulk DNA sequencing. Despite the extensive genomic alterations revealed in profiling studies, there remain limited experimental systems to model and perturb evolutionary processes.
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- Researchers are merging unstructured patient data with structured health records to create the MSK-CHORD dataset, consisting of varied cancer types from nearly 25,000 patients at Memorial Sloan Kettering Cancer Center.
- This dataset allows for in-depth analysis of cancer outcomes using advanced techniques like natural language processing, revealing new relationships that smaller datasets may not show.
- Using MSK-CHORD for machine learning models, findings suggest that incorporating features from these unstructured texts can better predict patient survival than relying solely on genomic data or cancer staging.
Anaplastic thyroid cancer (ATC) is a clinically aggressive malignancy with a dismal prognosis. Combined BRAF/MEK inhibition offers significant therapeutic benefit in patients with -mutant ATCs. However, relapses are common and overall survival remains poor.
View Article and Find Full Text PDFClonal hematopoiesis (CH) identified by somatic gene variants with variant allele fraction (VAF) ≥ 2% is associated with an increased risk of hematologic malignancy. However, CH defined by a broader set of genotypes and lower VAFs is ubiquitous in older individuals. To improve our understanding of the relationship between CH genotype and risk of hematologic malignancy, we analyzed data from 42 714 patients who underwent blood sequencing as a normal comparator for nonhematologic tumor testing using a large cancer-related gene panel.
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- The study examines the connection between clonal hematopoiesis (CH) and germline mutations in cancer predisposition genes among patients with solid tumors, using data from over 46,000 patients.
- Findings indicate that patients with pathogenic germline mutations are more likely to also have CH, highlighting a potential link related to biallelic inactivation and the role of DNA damage response genes.
- The research suggests that individuals with both germline mutations and CH may face a heightened risk of developing secondary leukemia, advocating for improved monitoring of these patients in clinical settings.
Clonal hematopoiesis (CH) increases the risk of atherosclerotic cardiovascular disease possibly due to increased plaque inflammation. Human studies suggest that limitation of interleukin-6 (IL-6) signaling could be beneficial in people with large CH clones, particularly in CH. Here we show that IL-6 receptor antibody treatment reverses the atherosclerosis promoted by CH, with reduction of monocytosis, lesional macrophage burden and macrophage colony-stimulating factor 1 receptor (CSF1R) expression.
View Article and Find Full Text PDFBackground: Although recommendations to prevent COVID-19 healthcare-associated infections (HAIs) have been proposed, data on their effectivity are currently limited.
Objective: The aim was to evaluate the effectivity of a program of control and prevention of COVID-19 in an academic general hospital in Spain.
Methods: We captured the number of COVID-19 cases and the type of contact that occurred in hospitalized patients and healthcare personnel (HCP).
Leukemias bearing fusions of the AF10/MLLT10 gene are associated with poor prognosis, and therapies targeting these fusion proteins (FPs) are lacking. To understand mechanisms underlying AF10 fusion-mediated leukemogenesis, we generated inducible mouse models of acute myeloid leukemia (AML) driven by the most common AF10 FPs, PICALM/CALM-AF10 and KMT2A/MLL-AF10, and performed comprehensive characterization of the disease using transcriptomic, epigenomic, proteomic, and functional genomic approaches. Our studies provide a detailed map of gene networks and protein interactors associated with key AF10 fusions involved in leukemia.
View Article and Find Full Text PDFIntroduction: This study examines the frequency, associated factors, and characteristics of healthcare personnel coronavirus disease 2019 cases in a healthcare department that comprises a tertiary hospital and its associated 12 primary healthcare centers.
Methods: This study included healthcare personnel that showed symptoms or were in contact with a coronavirus disease 2019 case patient from March 2, 2020 to April 19, 2020. Their evolution and characteristics (age, sex, professional category, type of contact) were recorded.