Publications by authors named "Jasmine Chauzeix"

Article Synopsis
  • * Its overexpression is particularly linked to CLL cases with unmutated immunoglobulin heavy chain variable (IGHV) genes, causing significant DNA damage and contributing to a more aggressive disease.
  • * The review emphasizes c-MYC's dual role in promoting rapid cell proliferation and driving genetic recombination, suggesting it could be a promising target for new therapeutic strategies in CLL.
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Chromosomal abnormalities are frequent in chronic lymphocytic leukemia (CLL), and most have prognostic value. In addition to the four well-known abnormalities (13q, 11q and 17p deletions, and trisomy 12), other recurrent aberrations have been linked to the disease outcome and/or drug resistance. Moreover, the complex karyotype has recently emerged as a prognostic marker for patients undergoing immunochemotherapy or targeted therapies.

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Mature T-cell and natural killer (NK)-cell neoplasms (MTNKNs) are a highly heterogeneous group of lymphomas that represent 10-15 % of lymphoid neoplasms and have usually an aggressive behavior. Diagnosis can be challenging due to their overlapping clinical, histological and immunophenotypic features. Genetic data are not a routine component of the diagnostic algorithm for most MTNKNs.

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Article Synopsis
  • The study explores the genetic predisposition to myeloid malignancies, highlighting a growing area of intersection between hematology and genetics, which has led the WHO to categorize certain tumors as "Myeloid Neoplasms with Germline Predisposition."
  • Researchers compared next-generation sequencing (NGS) data across multiple sample types from 29 patients and their 44 relatives, assessing the effectiveness of saliva as a diagnostic tool.
  • The findings revealed that while saliva could be useful for relatives, it was only effective for a minority of patients, prompting recommendations to collect saliva during remission and suggesting hair follicles as an alternative biopsy method.
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Background: Differential diagnosis of Waldenström macroglobulinemia (WM) with other indolent B-cell malignancies is still a challenge. Here, we propose an original and simple analysis of routine flow cytometry (FCM) unraveling the characteristic ongoing plasma cell (PC) differentiation of WM tumor B-cells.

Methods: FCM analysis of both B-cells and PC was performed on a series of 77 patients with IgM peak.

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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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Molecular diagnosis is an essential step of patient care. An increasing number of Copy Number Variations (CNVs) have been identified that are involved in inherited and somatic diseases. However, there are few existing tools to identify them among amplicon sequencing data generated by Next Generation Sequencing (NGS).

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More than 35 years after the Binet classification, there is still a need for simple prognostic markers in chronic lymphocytic leukemia (CLL). Here, we studied the treatment-free survival (TFS) impact of normal serum protein electrophoresis (SPE) at diagnosis. One hundred twelve patients with CLL were analyzed.

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Objectives: The intrathecal production of IgG is part of the diagnosis criteria for Multiple Sclerosis. Its assessment requires both quantitative (quantification of IgG and albumin in serum and cerebrospinal fluid (CSF)) and qualitative assays (isoelectric focusing). We have evaluated the analytical performances of the SPAPLUS® immunoturbidimeter (The Binding Site®) for the quantification of IgG and albumin in serum and CSF.

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We evaluated the analytical performances of the SPAPLUS(®) immunoturbidimeter assays manufactured by The Binding Site(®) for the quantification of thirteen immunological parameters in serum: IgG, IgA, IgM and IgD immunoglobulins, IgG subclasses (1 to 4), IgA subclasses (1 and 2), beta-2 microglobulin, free light chains kappa and lambda. The within-day precision (repeatability) and the between-day precision (reproducibility) were obtained for two or three concentration levels depending of the parameter and were below the recommendations of the manufacturer, except for the repeatability of IgG1 (at a level of concentration of 6.7 g/L).

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The transcription factor EGR2 is expressed in Schwann cells, where it controls peripheral nerve myelination. Mutations of EGR2 have been found in patients with congenital hypomyelinating neuropathy or Charcot-Marie-Tooth disease type 1D. In a patient with congenital amyelinating neuropathy, we observed pathological abnormalities recapitulating the peripheral nervous system phenotype of homozygous Egr2-null mice.

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