Publications by authors named "J Soulier"
Background: Allogeneic haematopoietic stem-cell transplantation is the standard treatment for bone marrow failure (BMF) in patients with Fanconi anaemia, but transplantation-associated complications such as an increased incidence of subsequent cancer are frequent. The aim of this study was to evaluate the safety and efficacy of the infusion of autologous gene-corrected haematopoietic stem cells as an alternative therapy for these patients.
Methods: This was an open-label, investigator-initiated phase 1/2 clinical trial (FANCOLEN-1) and long-term follow-up trial (up to 7 years post-treatment) in Spain.
Article Synopsis
- The study examines the blood-related characteristics and overall prognosis of 127 patients with telomere biology disorders (TBD) who were diagnosed after age 15, highlighting a lack of data on this topic.
- At diagnosis, significant haematological issues were present in nearly 76% of patients, with bone marrow failure (BMF) being the most common, affecting 46.5% of the cases, while some patients also developed additional complications over time.
- The findings suggest that BMF patients tend to be younger and have a better survival rate compared to those with higher-risk blood cancers, indicating TBD as a complex multi-organ disease needing further research on its evolutionary nature and outcomes.
Purpose: quantification is widely regarded as the standard for monitoring measurable residual disease (MRD) in Philadelphia chromosome-positive (Ph+) ALL. However, recent evidence of multilineage involvement questions the significance of MRD. We aimed to define the prognostic role of MRD as assessed by or lymphoid-specific immunoglobulin/T-cell receptor () gene markers.
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- The genomics era has led to the identification of the ERG gene as a new autosomal dominant predisposition factor for bone marrow failure (BMF) and hematological malignancies (HM), crucial for blood cell development and function.
- Research found several rare ERG variants associated with thrombocytopenia and various forms of HM, showing onset typically before age 40.
- Functional studies indicated that many ERG variants disrupt its role as a transcription factor, leading to ineffective blood cell production, with implications for clinical diagnosis and treatment strategies for affected patients and families.
Article Synopsis
- * A critical aspect of this research is accurately identifying cells in tissue samples, which can be difficult without clear cell membrane markers.
- * To overcome this challenge, a new segmentation algorithm called ComSeg has been developed, which works directly with RNA data and shows superior performance over existing methods, making it a valuable tool for researchers.