Paul Saultier

APHM and Aix Marseille University · Department of pediatric hematology and oncology and C2VN, INSERM 1263

Glanzmann thrombasthenia (GT) is a genetic bleeding disorder characterised by severely reduced/absent platelet aggregation in response to multiple physiological agonists. The severity of bleeding in GT varies markedly, as does the emergency situations and complications encountered in patients. A number of emergency situations may occur in the conte...

Overall survival rate after Hematopoietic stem cell transplantation (HSCT) for Inborn Errors of Immunity (IEI) has improved considerably and its indications have broadened. As a consequence, addressing the issue of long-term health-related quality of life (HRQoL) has become crucial. Our study focuses on the health and HRQoL of post-HSCT survivors....

Background: Light transmission aggregation (LTA) is used widely by the clinical and research communities. While it is a gold standard, there is a lack of inter-laboratory harmonization. Objectives: The primary objective was to assess whether sources of activators (mainly Adenosine diphosphate (ADP), Collagen, Arachidonic acid, Epinephrine, Throm...

(1) Background: Children and young adults with cancer are poorly represented in COVID-19 vaccination studies, and long-term protection conferred by vaccination is not known. (2) Objectives: 1. To determine the adverse effects associated with BNT162B2 vaccination in children and young adults with cancer. 2. To assess its efficacy in stimulating immu...

The spectrum of somatic mutations in pediatric histiocytoses and their clinical implications are not fully characterized, especially for non‐Langerhans cell histiocytosis (‐LCH) subtypes. A cohort of 415 children with histiocytosis from the French histiocytosis registry was reviewed and analyzed for BRAFV600E. Most BRAFWT samples were analyzed by n...

Background: Germline mutations in the ETV6 transcription factor gene are responsible for familial thrombocytopenia and leukemia predisposition syndrome. Although previous studies have shown that ETV6 plays an important role in megakaryocyte (MK) maturation and platelet formation, the mechanisms by which ETV6 dysfunction promotes thrombocytopenia r...

Background: Ovarian function impairment and infertility are among the most frequent late effects after hematopoietic stem cell transplantation (HSCT). Objective: The aim of this study was to evaluate ovarian function, occurence of premature ovarian insufficiency (POI), and spontaneous pregnancy in a large cohort of adult survivor women who had r...

Objective: To study the impact of hematopoietic stem cell transplantation (HSCT) on uterine volume of childhood acute leukemia (AL) survivor depending on age at HSCT and the type of myeloablative conditioning (MAC) regimen. Design: Prospective cohort study EXPOSURE: A multicentric prospective national study compared uterine volume in a cohort of...

Expansion of human megakaryoblasts from peripheral blood-derived CD34+ cells is commonly used to characterize inherited or acquired thrombocytopenia and evaluate defects in megakaryocyte (MK) differentiation, MK maturation and proplatelet formation. We applied single-cell RNA sequencing to understand local gene expression changes during megakaryopo...

Résumé Le traitement d’entretien correspond à la dernière phase de traitement des leucémies aiguës lymphoblastiques de l’enfant et de l’adolescent. Bien qu’il soit associé à des toxicités, et à des difficultés spécifiques dans sa gestion, il s’agit d’une phase essentielle permettant de diminuer le risque de rechute. Ce travail a pour objectif de pr...

Ten to fifteen percent of children with acute lymphoblastic leukemia (ALL) relapse following treatment. Of these, less than 2% display ophthalmic relapses, which owing to their scarcity, are largely undocumented, leaving clinicians with few diagnostic and therapeutic recommendations, despite serious functional sequelae. We conducted a French multic...

Background Since the introduction of tyrosine kinase inhibitors (TKIs), the profile of pediatric relapse of Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph⁺ ALL) has changed. However, the management of pediatric Ph⁺ ALL relapses is not currently standardized. Procedure We retrospectively analyzed the therapeutic strategies and ou...

Introduction Pediatric palliative care (PPC) teams address unmet needs and improve the quality of life of patients with life-limiting conditions across pediatric subspecialties. However, little is known about the timing, reasons, and nature of PPC team interventions in advanced heart diseases (AHD). Objectives Here we describe how, when, and why P...

Pediatric acute myeloid leukemia is a rare and heterogeneous disease in relation to morphology, immunophenotyping, germline and somatic cytogenetic and genetic abnormalities. Over recent decades, outcomes have greatly improved, although survival rates remain around 70% and the relapse rate is high, at around 30%. Cytogenetics is an important factor...

We included 255 patients from the L.E.A. French long-term follow-up cohort. All had received hematopoietic stem cell transplantation (HSCT) and/or testicular radiation for childhood acute leukemia and were older than 18 years at last L.E.A. evaluation. Total testosterone deficiency was defined as a <12 nmol/l level or by substitutive therapy, parti...

Background GATA1 is an essential transcription factor for both polyploidization and megakaryocyte (MK) differentiation. The polyploidization defect observed in GATA1 variant carriers is not well understood. Objective To extensively phenotype two pedigrees displaying different variants in the GATA1 gene and determine if GATA1 controls MYH10 express...

Objective To obtain a national overview of the epidemiology and management of invasive fungal infections (IFIs) in France for severe immunocompromised children who were treated for acute leukemia or had undergone an allogeneic hematopoietic stem cell transplantation (a-HSCT). Study design We performed a national multicenter retrospective study to...

Objectives To evaluate the applicability and compliance with guidelines for early initiation of long-term prophylaxis in infants with severe hemophilia A and to identify factors associated with guideline compliance. Study design This real-world, prospective, multicenter, population-based FranceCoag study included almost all French boys with severe...

There is a growing interest in physical activity (PA) in paediatric oncology. Overall studies in children with cancer have reported good adherence, positive trends in health status, and no adverse events. Thus, a general PA program should be offered to paediatric oncology inpatients. Anyhow, the absence of a dedicated place to perform PA sessions b...

Objective Childhood and adolescent cancer can result in high burden of distressing symptoms, particularly in high-risk malignancies. The Symptom Screening in Pediatrics Tool (SSPedi) is a reliable and valid approach to measure bothersome symptoms in paediatric patients receiving cancer treatments. Objective was to describe the feasibility of using...

Background: to evaluate the safety and efficacy of a physical activity program (PAP) in children and adolescents with cancer. Methods: children and adolescents with cancer were randomly assigned in a 1:1 ratio to the six-month PAP (intervention group) or to the control group. The first evaluation was performed at the end of the PAP (T0 + 6 mo)....

The ACTN1 gene has been implicated in inherited macrothrombocytopenia. To decipher the spectrum of variants and phenotype of ACTN1‐related thrombocytopenia, we sequenced the ACTN1 gene in 272 cases of unexplained chronic or familial thrombocytopenia. We identified 15 rare, monoallelic, non‐synonymous and likely pathogenic ACTN1 variants in 20 index...

Objective: To evaluate the association between medical and social environmental factors and the risk of repeating a grade in childhood leukemia survivors. Study design: A cross-sectional study of childhood leukemia survivors, recruited through the LEA cohort (Leucémie de l'Enfant et de l'Adolescent [French Childhood Cancer Survivor Study for Leu...

The prevalence of the metabolic syndrome among adults from the French childhood acute leukemia survivors' cohort was prospectively evaluated considering the type of anti-leukemic treatment received, and compared with that of controls. The metabolic profile of those patients was compared with that of controls. 3203 patients from a French volunteer c...

Congenital macrothrombocytopenia is a family of rare diseases, of which a significant fraction remains to be genetically characterized. To analyze cases of unexplained thrombocytopenia, 27 individuals from a patient cohort of the Bleeding and Thrombosis Exploration Center of the University Hospital of Marseille were recruited for a high-throughput...

INTRODUCTION Acute leukemia (AL) accounts for one third of childhood cancers. Cardiovascular conditions are serious long-term complications of childhood AL. However, few studies have investigated the risk of metabolic syndrome (MetS), a known predictor of cardiovascular disease, in patients treated without hematopoietic stem cell transplantation (H...

Variants in ETV6 , which encodes a transcription repressor of the E26 transformation-specific family, have recently been reported to be responsible for inherited thrombocytopenia and hematologic malignancy. We sequenced the DNA from cases with unexplained dominant thrombocytopenia and identified six likely pathogenic variants in ETV6 , of which fiv...

Cardiovascular conditions are serious long-term complications of childhood acute leukemia. However, few studies have investigated the risk of metabolic syndrome, a known predictor of cardiovascular disease, in patients treated without hematopoietic stem cell transplantation. We describe the overall and age-specific prevalence, and the risk factors...

Despite a standard of care combining surgery, radiotherapy (RT), and temozolomide chemotherapy, the average overall survival (OS) of glioblastoma patients is only 15 months, and even far lower when the patient cannot benefit from this combination. Therefore, there is a strong need for new treatments, such as new irradiation techniques. Against this...