Marc Berger
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View article: French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease
French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease Open
Gaucher disease (GD) is a rare autosomal recessive lysosomal disorder caused by glucocerebrosidase deficiency, with a prevalence in France of around 1/130,000 people. The clinical picture of GD is very heterogeneous, ranging from lifelong …
View article: Evaluating a predictive model of tyrosine kinase inhibitor therapy failure in a European-type cohort: a step towards population-specific tools
Evaluating a predictive model of tyrosine kinase inhibitor therapy failure in a European-type cohort: a step towards population-specific tools Open
Predicting therapeutic failure in patients with chronic phase-chronic myeloid leukemia (CP-CML) treated with tyrosine kinase inhibitors (TKI) remains a major challenge for personalized care management. The Sokal and EUTOS long-term surviva…
View article: SplenoMegaly study (SMS): exploring the etiologies for “unexplained” splenomegalies in the real world
SplenoMegaly study (SMS): exploring the etiologies for “unexplained” splenomegalies in the real world Open
Background The predominant etiologies of splenomegaly (SM) are readily discernible through routine clinical assessments, yet in numerous instances, the etiological basis remains elusive. Subsequent diagnostic steps are not consensual and a…
View article: P-041 Impact of ionizing radiation on human spermatozoa integrity
P-041 Impact of ionizing radiation on human spermatozoa integrity Open
Study question Do ionizing radiations affect human sperm integrity? If so, at what dose? Summary answer In vitro exposure of human ejaculated spermatozoa significantly reduces vitality, motility, and chromatin integrity without causing DNA…
View article: Cognitive Phenotyping and Interpretation of Alzheimer Blood Biomarkers
Cognitive Phenotyping and Interpretation of Alzheimer Blood Biomarkers Open
Importance Blood phosphorylated tau 217 (p-tau217) showed good performance in predicting brain amyloidosis. However, the importance of detailed cognitive phenotyping in patients without dementia when interpreting p-tau217 results remains u…
View article: Contribution of molecular characterization to the diagnosis of MPN in patients with low JAK2V617F variant allelic fraction in a real-world cohort
Contribution of molecular characterization to the diagnosis of MPN in patients with low JAK2V617F variant allelic fraction in a real-world cohort Open
Since 2008, the JAK2V617F mutation has been key for diagnosing myeloproliferative neoplasms (MPN) according to the World Health Organization criteria. However, the clinical and biological significance of low JAK2V617F…
View article: Multiplex digital PCR enables sensitive detection of resistance to BTK inhibitors
Multiplex digital PCR enables sensitive detection of resistance to BTK inhibitors Open
The advent of BTK inhibitors has been transformative in the management of patients with chronic lymphocytic leukemia or other B-cell lymphoproliferative disorders. However, emergence of BTK or PLCG2 mutations lead to resistance to these co…
View article: Clinical outcomes in patients in any phase of <scp>CML</scp> treated with ponatinib in France—Data from the <scp>TOPASE</scp> observational study
Clinical outcomes in patients in any phase of <span>CML</span> treated with ponatinib in France—Data from the <span>TOPASE</span> observational study Open
Summary The TOPASE study was set up to evaluate the outcomes of chronic myeloid leukaemia [CML] patients treated with ponatinib (PON) in a real‐world setting in France. One hundred and twenty CML patients, 105 in chronic phase (CP), 8 in a…
View article: Acid sphingomyelinase deficiency in France: a retrospective survival study
Acid sphingomyelinase deficiency in France: a retrospective survival study Open
View article: Correction: Value of combining biological age with assessment of individual frailty to optimize management of cancer treated with targeted therapies: model of chronic myeloid leukemia treated with tyrosine kinase inhibitors (BIO-TIMER trial)
Correction: Value of combining biological age with assessment of individual frailty to optimize management of cancer treated with targeted therapies: model of chronic myeloid leukemia treated with tyrosine kinase inhibitors (BIO-TIMER trial) Open
View article: Value of combining biological age with assessment of individual frailty to optimize management of cancer treated with targeted therapies: model of chronic myeloid leukemia treated with tyrosine kinase inhibitors (BIO-TIMER trial)
Value of combining biological age with assessment of individual frailty to optimize management of cancer treated with targeted therapies: model of chronic myeloid leukemia treated with tyrosine kinase inhibitors (BIO-TIMER trial) Open
View article: A Real-World Investigation of MRI Changes in Bone in Patients with Type 1 Gaucher Disease Treated with Velaglucerase Alfa: The EIROS Study
A Real-World Investigation of MRI Changes in Bone in Patients with Type 1 Gaucher Disease Treated with Velaglucerase Alfa: The EIROS Study Open
Background/Objectives: Gaucher disease type 1 (GD1) is characterized by hepatosplenomegaly, thrombocytopenia, and disabling bone manifestations requiring regular MRI monitoring. The EIROS study assessed the real-world impact of velaglucera…
View article: The initial molecular response predicts the deep molecular response but not treatment-free remission maintenance in a real-world chronic myeloid leukemia cohort
The initial molecular response predicts the deep molecular response but not treatment-free remission maintenance in a real-world chronic myeloid leukemia cohort Open
In chronic myeloid leukemia, the identification of early molecular predictors of stable treatment-free remission (TFR) after tyrosine kinase inhibitor (TKI) discontinuation is challenging. The predictive values of residual disease (BCR::AB…
View article: European Stop Tyrosine Kinase Inhibitor Trial (EURO-SKI) in Chronic Myeloid Leukemia: Final Analysis and Novel Prognostic Factors for Treatment-Free Remission
European Stop Tyrosine Kinase Inhibitor Trial (EURO-SKI) in Chronic Myeloid Leukemia: Final Analysis and Novel Prognostic Factors for Treatment-Free Remission Open
Clinical trials frequently include multiple end points that mature at different times. The initial report, typically based on the primary end point, may be published when key planned co-primary or secondary analyses are not yet available. …
View article: A retrospective and prospective observational study of MRI changes in bone in patients with type 1 Gaucher disease treated with velaglucerase alfa: the EIROS study.
A retrospective and prospective observational study of MRI changes in bone in patients with type 1 Gaucher disease treated with velaglucerase alfa: the EIROS study. Open
Background Gaucher disease type 1 (GD1) is a rare autosomal recessive disorder characterized by hepatosplenomegaly, thrombocytopenia, and disabling bone manifestations that require regular MRI monitoring to assess disease progression and t…
View article: 22q11.2 duplication syndrome: A rare chromosomal disorder with variable phenotypical and clinical presentations
22q11.2 duplication syndrome: A rare chromosomal disorder with variable phenotypical and clinical presentations Open
View article: S159: HEALTH-RELATED QUALITY OF LIFE OF PATIENTS WITH CHRONIC MYELOID LEUKEMIA AFTER DISCONTINUATION OF TYROSINE KINASE INHIBITORS: RESULTS FROM THE EURO-SKI STUDY
S159: HEALTH-RELATED QUALITY OF LIFE OF PATIENTS WITH CHRONIC MYELOID LEUKEMIA AFTER DISCONTINUATION OF TYROSINE KINASE INHIBITORS: RESULTS FROM THE EURO-SKI STUDY Open
Background: Stopping long-term therapy with tyrosine kinase inhibitors (TKIs) is now an option for an increasing number of patients with chronic phase chronic myeloid leukemia (CP-CML). However, there is paucity of evidence-based data on h…
View article: Freezing Does Not Alter Sperm Telomere Length despite Increasing DNA Oxidation and Fragmentation
Freezing Does Not Alter Sperm Telomere Length despite Increasing DNA Oxidation and Fragmentation Open
Correlations were reported between sperm telomere length (STL) and male fertility, sperm DNA fragmentation, and oxidation. Sperm freezing is widely used for assisted reproductive techniques, fertility preservation, and sperm donation. Howe…
View article: Supplementary Data from Evaluation of Residual Disease and TKI Duration Are Critical Predictive Factors for Molecular Recurrence after Stopping Imatinib First-line in Chronic Phase CML Patients
Supplementary Data from Evaluation of Residual Disease and TKI Duration Are Critical Predictive Factors for Molecular Recurrence after Stopping Imatinib First-line in Chronic Phase CML Patients Open
Supplemental table 1: Sequence of hydrolysis probes and primers used for the ddPCR.
View article: Data from Evaluation of Residual Disease and TKI Duration Are Critical Predictive Factors for Molecular Recurrence after Stopping Imatinib First-line in Chronic Phase CML Patients
Data from Evaluation of Residual Disease and TKI Duration Are Critical Predictive Factors for Molecular Recurrence after Stopping Imatinib First-line in Chronic Phase CML Patients Open
Purpose:Tyrosine kinase inhibitor (TKI) discontinuation is an emerging goal in chronic myelogenous leukemia (CML) management and several studies have demonstrated the feasibility of safely stopping imatinib. A sustained deep molecular resp…
View article: Data from Evaluation of Residual Disease and TKI Duration Are Critical Predictive Factors for Molecular Recurrence after Stopping Imatinib First-line in Chronic Phase CML Patients
Data from Evaluation of Residual Disease and TKI Duration Are Critical Predictive Factors for Molecular Recurrence after Stopping Imatinib First-line in Chronic Phase CML Patients Open
Purpose:Tyrosine kinase inhibitor (TKI) discontinuation is an emerging goal in chronic myelogenous leukemia (CML) management and several studies have demonstrated the feasibility of safely stopping imatinib. A sustained deep molecular resp…
View article: Supplementary Data from Evaluation of Residual Disease and TKI Duration Are Critical Predictive Factors for Molecular Recurrence after Stopping Imatinib First-line in Chronic Phase CML Patients
Supplementary Data from Evaluation of Residual Disease and TKI Duration Are Critical Predictive Factors for Molecular Recurrence after Stopping Imatinib First-line in Chronic Phase CML Patients Open
Supplemental table 1: Sequence of hydrolysis probes and primers used for the ddPCR.
View article: Data from Immune Infiltrate and Tumor Microenvironment Transcriptional Programs Stratify Pediatric Osteosarcoma into Prognostic Groups at Diagnosis
Data from Immune Infiltrate and Tumor Microenvironment Transcriptional Programs Stratify Pediatric Osteosarcoma into Prognostic Groups at Diagnosis Open
The outcomes of adolescents/young adults with osteosarcoma have not improved in decades. The chaotic karyotype of this rare tumor has precluded the identification of prognostic biomarkers and patient stratification. We reasoned that transc…
View article: Post-COVID-19 Syndrome: The symptoms, clinical findings, and management of possible transient small fiber neuropathy in a pediatric patient
Post-COVID-19 Syndrome: The symptoms, clinical findings, and management of possible transient small fiber neuropathy in a pediatric patient Open
View article: Neutralizing antibodies against SARS-CoV-2 variants following mRNA booster vaccination in adults older than 65 years
Neutralizing antibodies against SARS-CoV-2 variants following mRNA booster vaccination in adults older than 65 years Open
View article: The Spliceosome: A New Therapeutic Target in Chronic Myeloid Leukaemia
The Spliceosome: A New Therapeutic Target in Chronic Myeloid Leukaemia Open
RNA splicing factors are frequently altered in cancer and can act as both oncoproteins and tumour suppressors. They have been found mutated or deregulated, justifying the growing interest in the targeting of splicing catalysis, splicing re…
View article: Kinetics of early and late molecular recurrences after first-line imatinib cessation in chronic myeloid leukemia: updated results from the STIM2 trial
Kinetics of early and late molecular recurrences after first-line imatinib cessation in chronic myeloid leukemia: updated results from the STIM2 trial Open
Discontinuation of tyrosine kinase inhibitors in chronic phase chronic myeloid leukemia is feasible in clinical practice based on recently published international recommendations. Nevertheless, factors predictive of molecular recurrence ha…
View article: Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities—the TENALYS study, a patient perspective survey
Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities—the TENALYS study, a patient perspective survey Open
View article: Mast cell density and its clinical relevance in Waldenström's macroglobulinemia
Mast cell density and its clinical relevance in Waldenström's macroglobulinemia Open
The presence of numerous mast cells (MCs) mixed with tumor cells in the bone marrow (BM) is a hallmark of the diagnosis of Waldenström's macroglobulinemia (WM). MCs have been shown to support lymphoplasmacytic cell growth, but there is thu…
View article: Applicability of the <scp>long‐term</scp> uncertainty in measurement (<scp>LTUM</scp>) method for analytical performance assessment in clinical cytometry laboratories
Applicability of the <span>long‐term</span> uncertainty in measurement (<span>LTUM</span>) method for analytical performance assessment in clinical cytometry laboratories Open
Background The estimation of uncertainty in measurement for quantitative analyses is an international obligation of the ISO15189 standard for laboratories. The most widespread method is the Internal Quality Control and External Quality Ass…