A5089331772- Hemoglobinopathies and Related Disorders
- Iron Metabolism and Disorders
- Sarcoma Diagnosis and Treatment
- Neuroblastoma Research and Treatments
- Testicular diseases and treatments
- Prenatal Screening and Diagnostics
- Lymphoma Diagnosis and Treatment
- Blood groups and transfusion
- Tumors and Oncological Cases
- Hematopoietic Stem Cell Transplantation
- Hematological disorders and diagnostics
- Genetic factors in colorectal cancer
- Cancer therapeutics and mechanisms
- Bone and Joint Diseases
- Cardiac tumors and thrombi
- Viral-associated cancers and disorders
- Glioma Diagnosis and Treatment
- Neuroendocrine Tumor Research Advances
- Cancer Genomics and Diagnostics
- Cancer, Hypoxia, and Metabolism
- Neutropenia and Cancer Infections
- Renal and related cancers
- Chromatin Remodeling and Cancer
- Vascular Tumors and Angiosarcomas
- Bone Tumor Diagnosis and Treatments
Queen Fabiola Children's University Hospital
2016-2025
Université Libre de Bruxelles
2013-2025
Sciensano (Belgium)
2024
Erasmus Hospital
2001-2023
Centre Oscar Lambret
2013
Clinic of Hope
2001
Universitair Ziekenhuis Leuven
2001
Universitair Ziekenhuis Brussel
2001
Institut Gustave Roussy
1998
University of Liège
1998
To evaluate the survival of patients with sickle cell disease (SCD) recorded in Belgian SCD Registry and to assess impact disease-modifying treatments (DMT).The created 2008 included eight centers. All available data were retrospectively encoded database. After until 2012, all prospectively for already registered as well newly diagnosed subjects. Data from neonatal screening or diagnosis (first contact) last follow-up death. diagnosis, demography, outcome data.We collected 469 over a 5,110...
Congenital disorders of glycosylation (CDG) are a group rare metabolic diseases, due to impaired protein and lipid glycosylation. We identified two patients with defective serum transferrin mutations in the MAGT1 gene. These present phenotype that is mainly characterized by intellectual developmental disability. has been described be subunit oligosaccharyltransferase (OST) complex more specifically STT3B complex. However, it was also claimed magnesium (Mg2+) transporter. So far, were linked...
Clinical trials frequently include multiple end points that mature at different times. The initial report, typically based on the primary point, may be published when key planned co-primary or secondary analyses are not yet available. Trial Updates provide an opportunity to disseminate additional results from studies, in JCO elsewhere, for which point has already been reported.The RMS2005 study included two phase III randomized high-risk (HR) and observational low (LR), standard (SR), very...
Comparative genomic hybridization (CGH) analysis was performed on 36 neuroblastomas of both low and high stage disease. This study significantly increases the number neuroblastoma tumors studied by CGH. Analysis larger series is particularly important in view different clinical subgroups that are recognized for this tumor. The present data a comparison with all published CGH provide further insights into genetic heterogeneity neuroblastoma. Stage 1, 2, 4S showed predominantly whole...
Despite improvements in medical management, sickle cell disease (SCD) remains associated with severe morbidity and decreased survival. Allogeneic haematopoietic stem transplantation (HSCT) the only curative approach. We report outcome of 50 consecutive children SCD that received HSCT our unit between November 1988 April 2013. The source was bone marrow (n = 39), cord blood 3), 7) peripheral cells 1). All patients had ≥1 manifestation: 37 presented recurrent vaso-occlusive crises/acute chest...
The objective of this study was to investigate the role clinical factors together with FOXO1 fusion status in patients nonmetastatic rhabdomyosarcoma (RMS) develop a predictive model for event-free survival and provide rationale risk stratification future trials.
Abstract Background Malignant brain tumors (BT) are among the cancers most frequently associated with constitutional mismatch repair deficiency (CMMRD), a rare childhood cancer predisposition syndrome resulting from biallelic germline mutations in genes. This study analyzed data European “Care for CMMRD” (C4CMMRD) database to describe their clinical characteristics, treatments, and outcome aim of improving its diagnosis/treatment. Methods Retrospective analysis on patients CMMRD malignant BT...
A cytogenetic study of an alveolar soft-part sarcoma, a rare tumor probably myogenic origin, demonstrated t(X;17)(p11;q25) as the sole chromosomal abnormality. Dual- and triple-color fluorescence in situ hybridization, performed on metaphase interphase cells, confirmed translocation between chromosomes X 17 that this resulted loss 17q25. Involvement 17q25 has been described four previously published cases but without further characterization. Compared to our karyotype, it seems derivative...
Abstract High‐resolution array comparative genomic hybridization (arrayCGH) profiling was performed on 75 primary tumors and 29 cell lines to gain further insight into the genetic heterogeneity of neuroblastoma refine subclassification. Using a novel data‐mining strategy, three major two minor subclasses were delineated. Eighty‐three percent could be assigned subclasses, corresponding known clinically biologically relevant subsets in neuroblastoma. The remaining represented (1) with no/few...
BackgroundThe molecular cause of severe congenital neutropenia (SCN) is unknown in 30% to 50% patients. SEC61A1 encodes the α-subunit Sec61 complex, which governs endoplasmic reticulum protein transport and passive calcium leakage. Recently, mutations were reported be pathogenic common variable immunodeficiency glomerulocystic kidney disease.ObjectiveOur aim was expand spectrum SEC61A1-mediated disease include autosomal dominant SCN.MethodsWhole exome sequencing findings validated, compared...
The aim of this study is to describe the growth, pubertal development, and gonadal function a cohort 30 sickle cell disease children who underwent bone marrow transplantation. They all received standard pretransplant conditioning regimen busulfan (14 or 16 mg/kg) cyclophosphamide (200 mg/kg). Growth was normal both before after transplant. Seven out 10 girls had severe ovarian failure requirement for estrogen replacement. Three recovered some posttransplant, with spontaneous menses, 1...
Neuroblastoma is an embryonic tumor arising from immature sympathetic nervous system cells. Recurrent genomic alterations include MYCN and ALK amplification as well recurrent patterns of gains losses whole or large partial chromosome segments. A recent genome sequencing effort yielded no frequently recurring mutations in genes other than those affecting ALK. However, the study further stresses importance DNA copy number this disease, particular for implicated neuritogenesis. Here we provide...