Publications by authors named "Cedric Pastoret"

Mycosis fungoides (MF) and Sezary syndrome (SS) are common entities among primary cutaneous lymphomas. Large cell transformation is challenging for diagnosis and therapy. Molecular mechanisms by which these lymphomas undergo this transformation are poorly defined.

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  • MRD monitoring is essential for managing blood cancers, and while traditional methods use specific molecular targets, new research identifies additional fusion transcripts as potential markers for MRD.
  • A study compared a focused RNA-seq method (FusionPlex) with a comprehensive RNA-seq approach (Advanta RNA-Seq XT) and found both methods had 100% agreement in detecting known fusions and good correlation in gene expression levels.
  • In a trial with 126 patients, the targeted RNA-seq identified fusion transcripts in nearly half of the cases, leading to the development of specialized digital PCR tests for rare fusions, suggesting a potential shift in MRD evaluation techniques.
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Large granular lymphocytic (LGL) leukaemia is a rare chronic lymphoproliferative disorder characterized by an expansion of cytotoxic T or NK cells. Despite a usually indolent evolution, most patients will require a treatment over the course of the disease because of cytopenia or symptomatic associated autoimmune disorders. First-line treatment is based on immunosuppressive agents, namely cyclophosphamide, methotrexate and ciclosporin.

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  • A low allele burden (<20%) of the CALR driver mutation is present in 10.8% of patients with CALR-mutated myeloproliferative neoplasms (MPNs), primarily seen in essential thrombocythemia.
  • Patients with this low allele burden tend to have a milder disease phenotype.
  • Those with less than 20% allele burden also experience a slower progression of their condition compared to patients with a higher allele burden (≥20%).
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Background: VEXAS (Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is caused by acquired somatic mutations in UBA1. Sweet-syndrome-like skin disorders [and especially histiocytoid Sweet syndrome (HSS)] may be associated with VEXAS syndrome.

Objectives: To characterize the clinical and histopathological features of HSS in patients with VEXAS syndrome.

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Introduction: Factor X deficiency is a rare inherited bleeding disorder. To date, 181 variants are reported in the recently updated F10-gene variant database.

Aim: This study aimed to describe new F10 variants.

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  • * In a study of 1091 adult patients, 12.9% had KMT2A-r, with a 5-year relapse rate of 40.7% and overall survival rate of 53.3%. The presence of specific gene alterations like TP53 and IKZF1 correlated with significantly worse outcomes.
  • * The analysis showed that measuring minimal residual disease (MRD) using KMT2A markers was more reliable than other methods, indicating that patients responding well early
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Background: Vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic syndrome is a newly discovered inflammatory disease affecting male subjects, for which few data exist in the literature. Here, we describe the case of a patient with known Sweet's syndrome admitted to the intensive care unit and for whom a vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic syndrome was diagnosed, allowing for appropriate treatment and the patient's discharge and recovery.

Case Presentation: A 70-year-old male White patient was hospitalized in the intensive care unit following an intrahospital cardiac arrest.

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Unlabelled: Low hypodiploidy defines a rare subtype of B-cell acute lymphoblastic leukemia (B-ALL) with a dismal outcome. To investigate the genomic basis of low-hypodiploid ALL (LH-ALL) in adults, we analyzed copy-number aberrations, loss of heterozygosity, mutations, and cytogenetics data in a prospective cohort of Philadelphia (Ph)-negative B-ALL patients (n = 591, ages 18-84 years), allowing us to identify 80 LH-ALL cases (14%). Genomic analysis was critical for evidencing low hypodiploidy in many cases missed by cytogenetics.

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Tγδ large granular lymphocyte leukemia (LGLL) is a rare variant of T-cell LGLL (T-LGLL) that has been less investigated as compared with the more frequent Tαβ LGLL, particularly in terms of frequency of STAT3 and STAT5b mutations. In this study, we characterized the clinical and biological features of 137 patients affected by Tγδ LGLL; data were retrospectively collected from 1997 to 2020 at 8 referral centers. Neutropenia and anemia were the most relevant clinical features, being present in 54.

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  • Blinatumomab is a bispecific T-cell engager used for treating B-cell precursor acute lymphoblastic leukemia (B-ALL) in patients who have minimal residual disease (MRD) or are in relapse, with a study analyzing 73 patients receiving this treatment.
  • The results showed that high pre-treatment MRD levels correlated with poorer outcomes, specifically shorter relapse-free survival and overall survival rates.
  • The study suggests that understanding tumor burden prior to treatment could lead to more personalized strategies for managing relapsed patients, highlighting the importance of MRD levels in treatment planning.
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Large granular lymphocytic leukemia is a rare lymphoproliferative disorder characterized by a clonal expansion of T-lineage lymphocyte or natural killer (NK) cells in 85 and 15% of cases respectively. T and NK large granular leukemia share common pathophysiology, clinical and biological presentation. The disease is characterized by cytopenia and a frequent association with autoimmune manifestations.

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Distinguishing chronic lymphoproliferative disorders of NK cells (CLPD-NK) from reactive NK-cell expansion is challenging. We assessed the value of killer immunoglobulin-like receptor(KIR) phenotyping and targeted high-throughput sequencing in a cohort of 114 consecutive patients with NK cell proliferation, retrospectively assigned to a CLPD-NK group (n = 46) and a reactive NK group (n = 68). We then developed an NK-cell clonality score combining flow cytometry and molecular profiling with a positive predictive value of 93%.

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Introduction: Mutational complexity or tumor mutational burden (TMB) influences the course of chronic lymphocytic leukemia (CLL). However, this information is not routinely used because TMB is usually obtained from whole genome or exome, or from large gene panel high-throughput sequencing.

Methods: Here, we used the C-Harrel concordance index to determine the minimum panel of genes for which mutations predict treatment-free survival (TFS) as well as large resequencing panels.

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  • - Among myeloproliferative neoplasms, polycythemia vera (PV) and essential thrombocythemia (ET) are chronic conditions that can evolve into leukemia, although this progression is rare and has a poor prognosis.
  • - A study involving 49 cases of leukemic transformations in PV and ET identified three distinct molecular groups that correlate with different timelines for transformation based on specific genetic mutations.
  • - The research revealed that some mutations were present during the chronic phase of the disease, but not all mutations were detectable before the onset of leukemia, indicating that the transformation process may involve varying molecular mechanisms over time.
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Background: Currently, the recommended tacrolimus (TAC) trough level (Cmin) after liver transplantation (LT) is 6-10 ng/mL (when associated in triple immunosuppressive therapy). However, few studies have achieved the lower limit of this range, especially below 7 ng/mL. This study evaluated the efficacy of a target TAC Cmin of 4-7 ng/mL after LT.

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