A5072032309- Acute Myeloid Leukemia Research
- Cancer Genomics and Diagnostics
- Chronic Lymphocytic Leukemia Research
- RNA modifications and cancer
- RNA and protein synthesis mechanisms
- Immunodeficiency and Autoimmune Disorders
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Hemoglobinopathies and Related Disorders
- Lymphoma Diagnosis and Treatment
- Erythrocyte Function and Pathophysiology
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Cancer-related Molecular Pathways
- Protein Degradation and Inhibitors
- DNA Repair Mechanisms
- Chronic Myeloid Leukemia Treatments
- Acute Lymphoblastic Leukemia research
- Blood disorders and treatments
- Platelet Disorders and Treatments
- Multiple Myeloma Research and Treatments
- Genomics and Rare Diseases
- Hematopoietic Stem Cell Transplantation
- RNA Research and Splicing
- Neonatal Health and Biochemistry
- Blood properties and coagulation
- Sphingolipid Metabolism and Signaling
Hôpital Saint-Louis
2017-2024
Assistance Publique – Hôpitaux de Paris
2012-2024
Centre Hospitalier Universitaire de Poitiers
2021-2024
Université de Poitiers
2024
Fédération Hospitalo-Universitaire, Paris Center for Microbiome Medicine
2024
Université Paris Cité
2015-2023
Institut de recherche Saint-Louis
2019-2023
Inserm
2012-2020
Centre National de la Recherche Scientifique
2016-2020
Institut Cochin
2014-2020
Mass spectrometry-based proteomics now enables the absolute quantification of thousands proteins in individual cell types. We used this technology to analyze dynamic proteome changes occurring during human erythropoiesis. quantified expression 6,130 erythroid differentiation from late burst-forming units-erythroid (BFU-Es) orthochromatic erythroblasts. A modest correlation between mRNA and protein was observed. identified several with unexpected patterns cells, highlighting a breakpoint...
Key Points The ClinGen MM-VCEP has specified RUNX1-specific curation rules to address gene function, gene-specific domains, and phenotypic criteria. criteria resulted in a reduction CONF VUS variants by 33%, emphasizing the need for expert variant curation.
Summary The W orld H ealth O rganization 2008 Classification emphasizes myeloperoxidase ( MPO ) detection as sufficient for assigning a blast population to the myeloid lineage. Published positivity thresholds are 10% flow cytometry FCM but 3% cytochemistry. Here we re‐evaluated ‐ threshold by comparing retrospectively 128 acute lymphoblastic leukaemias and 75 without maturation, all assessed benzidine‐based A 13% was found be relevant using an isotype control background‐reference...
Key Clinical Message 18 F‐FDG PET/CT has clinical relevance in HCL at diagnosis and for the follow‐up of patients treated, especially case atypical presentations such as bone involvements (which are probably underestimated) poor marrow infiltration. Abstract Bone lesions rarely reported Hairy Cell Leukemia (HCL). We report two BRAF V600E mutated presented foreground, involvement, important role played their management. discuss crucial that could play routine practice.
Acute myeloid leukemia (AML) with BCR::ABL1 has recently been recognized as a distinct subtype in international classifications. Distinguishing it from blast crisis chronic (BC-CML) without evidence of phase (CP), remains challenging. We aimed to better characterize this entity by integrating clonal architecture analysis, mutational landscape assessment, and gene expression profiling. analyzed large retrospective cohort study including CML AML patients. Two patients harboring fusion were...
Germline RUNX1 mutations lead to thrombocytopenia and platelet dysfunction in familial disorder with predisposition acute myelogenous leukemia (AML). Multiple aspects of function are impaired these patients, associated altered expression genes regulated by RUNX1. We aimed identify RUNX1-targets involved combining transcriptome analysis patient shRUNX1-transduced megakaryocytes (MK). Down-regulated included TREM-like transcript (TLT)-1 (TREML1) the integrin subunit alpha (α)-2 (ITGA2)...
In ribosomopathies, the Diamond-Blackfan anemia (DBA) or 5q- syndrome, ribosomal protein (RP) genes are affected by mutation deletion, resulting in bone marrow erythroid hypoplasia. Unbalanced production of subunits leading to a limited ribosome cellular content, regulates translation at expense master transcription factor GATA1. RPS14-deficient cells mimicking syndrome defects, we show that transcript length, codon bias coding sequence (CDS) and 3'UTR structure key determinants translation....
Abstract Background Multiparametric flow cytometry (MFC) was recently reported to be a helpful additional tool in the diagnosis of myelodysplastic syndromes (MDS). However, numerous aberrancies have been that makes their evaluation difficult as part routine diagnosis. Methods Here, we validated 1‐tube panel for granulocytic and monocytic maturation by MFC correlated our findings with prognosis MDS. A total 251 samples MDS suspicion were prospectively analyzed compared an internal reference...
Summary The diagnosis of Waldenström Macroglobulinaemia ( WM )/lymphoplasmacytic lymphoma LPL ) remains one exclusion because other B‐cell lymphoproliferative disorders (B‐ LPD ), such as marginal zone MZL can fulfil similar criteria, including MYD 88 L265P mutation. It has been suggested that expression the myeloid marker CD 13 (also termed ANPEP is more frequent in than B‐ and also described on normal malignant plasma cells. Here, was tested a cohort 1037 patients from 3 centres by flow...
Compelling evidence has emerged for the relevance of flow cytometry (FC) in diagnostic work-up myelodysplastic syndromes (MDS) but due to technical issues, erythroid lineage been under investigated, specifically therapeutic context.Using "no red cell lysis" method developed set up RED-score, we quantified fraction CD117/c-KIT-expressing precursors a cohort 144 MDS patients and studied correlation with response erythropoiesis-stimulating agents (ESA) sub 63 low-risk patients.We confirmed...
CD95, a member of the death receptor family initiates caspase-dependent apoptosis, when activated by its ligand CD95L, thought to negatively regulate erythrocyte production in bone marrow. We have previously shown that CD95 is overexpressed two thirds patients with lower risk myelodysplastic syndrome (MDS) and resistance erythropoiesis-stimulating agents (ESA) linked poor residual erythropoiesis. In present study, we show overexpression previous transfusion are independent predictive factors...
Abstract Burkitt lymphoma (BL) is characterized by a translocation of the MYC oncogene that leads to upregulation expression, cell growth and proliferation. It well‐established not sufficient genetic event cause BL. Next‐generation sequencing has recently provided comprehensive analysis landscape additional events contribute BL lymphomagenesis. Refractory or relapsing are almost always incurable as result selection highly chemoresistant clonally related population. Conversely, few recurrence...
Abstract We present two independent cases of syndromic thrombocytopenia with multiple malformations, microcephaly, learning difficulties, dysmorphism and other features. Exome sequencing identified novel de novo heterozygous variants in these patients, c.35G>T p.(Gly12Val) c.178G>C p.(Gly60Arg), the RAP1B gene (NM_001010942.2). These have not been described previously as germline variants, however functional studies literature strongly suggest a clinical implication activating hot spot...