Publications by authors named "Sujobert P"
Article Synopsis
- VEXAS syndrome, identified in 2020, is caused by mutations in the UBA1 gene and shows a variety of clinical and hematological features, making it challenging to distinguish from other inflammatory conditions. !* -
- This study collected a dataset of 9,514 images of polymorphonuclear cells (PMNs) and used a convolutional neural network (CNN) to automate the detection of specific dysplastic features unique to VEXAS, achieving a high level of accuracy (AUC of 0.85-0.97). !* -
- Results indicate that automated analysis can effectively support hematologists in identifying potential VEXAS cases, suggesting a screening score for UBA1 mutational
Article Synopsis
- Immunotherapies have shown limited success in treating nodal peripheral T-cell lymphomas (PTCLs) due to a poor understanding of their immune responses.
- Researchers conducted detailed analyses of the immune tumor microenvironment (TME) in various PTCL samples, revealing a higher presence of regulatory T cells and exhausted CD8+ T cells.
- The study found that high levels of CD39 expression on T cells are associated with worse patient outcomes, suggesting it as a potential new prognostic factor and target for treatment.
Objectives: Vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic (VEXAS) syndrome is an adult-onset autoinflammatory disease associated with somatic ubiquitin-like modifier-activating enzyme 1 (UBA1) mutations. We aimed to evaluate the efficacy and safety of targeted therapies.
Methods: Multicentre retrospective study including patients with genetically proven VEXAS syndrome who had received at least one targeted therapy.
Article Synopsis
- Staging and stratification challenge traditional views of disease by highlighting the gradual evolution of conditions and categorizing them based on specific markers, blurring the lines between normal and pathological states.
- The paper focuses on oncology and psychiatry as two medical fields significantly influenced by these diagnostic approaches, revealing both conceptual and ethical issues that arise from their use.
- It argues for a shift away from viewing diagnostic staging as strictly tied to time, instead promoting a blend of staging and stratification to improve clinical practice and better tailor interventions.
Article Synopsis
- Acute leukaemias are serious blood cancers that require quick and accurate diagnosis of their three main types (ALL, AML, APL) to ensure proper treatment and reduce mortality risk, but expert diagnosis can be challenging due to resource limitations.
- Researchers aimed to develop a machine-learning model using routine laboratory data to identify leukaemia subtypes and improve diagnostic accuracy without the need for extensive cytological expertise.
- The study involved data from six French hospitals and successfully built the Artificial Intelligence Prediction of Acute Leukemia (AI-PAL) tool, which demonstrated strong performance in predicting leukaemia subtypes based on 19 selected laboratory parameters from the patient datasets.
Despite achieving high rates of complete remission with RCHOP immuno-chemotherapy, almost all patients with follicular lymphoma (FL) will experience multiple relapses after treatment. The lack of experimental model of FL limits our understanding of heterogeneity in treatment response. Here we characterized a new model of FL patient-derived xenograft (PDX) in avian embryos.
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- High-throughput sequencing is crucial for diagnosing blood cancers, but understanding missense mutations is still difficult.
- This study used the AlphaMissense database to evaluate how well machine learning can help predict the effects of these mutations for better interpretation.
- Analysis of 2073 variants from 686 patients showed that AlphaMissense predictions were highly accurate (AUC of ROC curve 0.95) and highlighted discrepancies with current clinical interpretation methods.
Article Synopsis
- - The study evaluated the effectiveness and costs of next-generation sequencing (NGS) in treating various hematological cancers in both pediatric and adult patients, collecting data from 26 laboratories with differing practices.
- - Results showed that NGS influenced treatment management for 73.4% of cases, particularly providing prognostic information and aiding treatment adaptations, though about 18.9% of prescriptions had no immediate impact on therapy.
- - The average cost for NGS samples was 191 €, with variations based on the type of panel used, highlighting the need for clear discussions about precision medicine's effects on patient care and financial implications.
Article Synopsis
- In France, 40% of preventable cancers are linked to lifestyle choices and occupational exposures.
- Despite substantial evidence, public health initiatives mainly emphasize personal behavior changes rather than addressing larger socio-environmental issues.
- The article explores why the influence of socio-environmental factors is often overlooked in discussions about cancer prevention.
Article Synopsis
- VEXAS syndrome is a newly described condition that raises questions about the classification of myelodysplastic syndromes in medical diagnosis.
- This syndrome involves clonal expansion from somatic mutations and is linked to features like dysplastic blood cells and low blood cell counts, complicating the lines between healthy and unhealthy hematopoiesis.
- The authors propose a refined classification system for hematopoiesis, suggesting that VEXAS may not fit the traditional criteria for myelodysplastic syndromes, and introducing terms to better differentiate types of clonal hematopoiesis.
Article Synopsis
- The study explores the role of the transcription factor CCAAT-enhancer binding protein α (C/EBPα) in lipid metabolism and cellular homeostasis in acute myeloid leukemia (AML), particularly with mutations in FLT3.
- Researchers found that C/EBPα and FLT3 activation enhance lipid production and desaturation in AML cells, leading to increased vulnerability to oxidative stress.
- Inhibiting C/EBPα or FLT3 demonstrates potential for therapeutic strategies targeting lipid metabolism to promote ferroptotic cell death in FLT3-mutant AML, a type of leukemia affecting 30% of patients.
Article Synopsis
- Current guidelines for chronic lymphocytic leukemia (CLL) recommend checking the IGHV gene mutation status before starting treatment, but traditional NGS methods face limitations in cost and technical requirements.
- The new Next-CLL method allows for IGHV mutation analysis using standard NGS devices, streamlining the process in routine labs and demonstrating higher reliability compared to traditional Sanger sequencing.
- Validation of Next-CLL showed perfect concordance with reference techniques and no significant bias in IGHV usage, making it a practical and effective tool for evaluating prognosis and treatment options for CLL patients.
Article Synopsis
- The review explores current knowledge of VEXAS syndrome, focusing on its underlying mechanisms and treatment options since its recognition two years ago.
- Recent research highlights the effectiveness of the JAK inhibitor ruxolitinib for managing inflammation, while azacytidine also shows promise; however, allogeneic stem cell transplantation is the only known cure for selected patients.
- To enhance understanding and treatment of VEXAS, the authors suggest standardized criteria for reporting therapeutic outcomes, aiming for better data collection and analysis in future clinical trials.
Article Synopsis
- Personalized medicine in acute myeloid leukemia (AML) faces challenges, particularly with the new prognostic scoring algorithm, Knowledge Bank (KB), developed from genetic mutation findings in trials.
- A study involving 167 AML patients examined the accuracy of the KB algorithm in predicting overall survival (OS) and found discrepancies, especially in younger patients with adverse risk categories and older patients with favorable risk categories.
- The study suggests that the emergence of new therapies and improved outcomes from treatments like allogeneic stem cell transplantation highlight the need for continuous evaluation and adaptation of predictive models in AML.
Article Synopsis
- * Researchers found that knocking out BTG1 increases the severity of the disease, especially when paired with Bcl2 overexpression.
- * Additionally, they identified a partnership between BTG1 and the protein BCAR1, leading to enhanced cell migration when BTG1 is mutated or deleted, which can potentially be treated with SRC inhibitors like dasatinib.
Article Synopsis
- Allogeneic hematopoietic stem cell transplantation (allo-HSCT) using FLAMSA-Bu is a treatment option for high-risk acute myeloid leukemia (AML) patients, particularly those who are refractory or have relapsed.
- A study of 165 patients showed that detectable minimal residual disease (MRD) before transplantation was linked to worse overall survival (OS) and higher relapse rates following the procedure.
- The findings highlight that pre-transplant MRD status is a crucial indicator of patient outcomes, with MRD negativity correlated to better survival and reduced relapse risk, while factors such as age and risk stratification did not significantly impact outcomes.
Article Synopsis
- VEXAS syndrome is an autoinflammatory condition linked to mutations, characterized by vacuoles in myeloid progenitors and somatic changes.
- A study by Heiblig et al analyzed 30 patients with VEXAS syndrome who were treated with various Janus kinase (JAK) inhibitors.
- The findings showed positive results for the JAK1/2 inhibitor ruxolitinib, leading to clinical remissions and less reliance on steroids for most patients.
Oncology has been proposed as a model of scientificity, in order to promote scientific approaches to psychiatry. In this article, another type of relation between oncology and psychiatry is explored, which promotes the idea of a mutually enriching dialogue and underlines the contributions of psychiatry to oncology. The ways in which both fields address epistemological and ethical issues in their respective approaches to disease is also examined.
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- Mutation detection via next-generation sequencing is essential for cancer diagnosis, but choosing the right genes for analysis is challenging; it requires balancing informativity and cost.
- The Panel Informativity Optimizer (PIO) is an open-source R package designed to help researchers select the best genomic intervals for cancer panels, using patient-level data from various cancer types.
- PIO not only aids in optimizing informativity and panel size but also includes features for testing and benchmarking custom panels, showing it can reduce panel size significantly while maintaining accuracy.
Article Synopsis
- Mature blood cells develop from hematopoietic stem cells in bone marrow through a differentiation process that may be either organized (instructive) or random (stochastic).
- Research using single-cell transcriptomic data showed variability in gene expression during blood cell differentiation, with notable peaks in variability at certain stages across different cell lineages.
- Findings suggest that hematopoietic differentiation should be viewed as a dynamic stochastic process characterized by periods of uncertainty, supporting the idea that differentiation involves significant cell-to-cell variability.