A5011497644- Cancer, Hypoxia, and Metabolism
- Neuroblastoma Research and Treatments
- Adrenal and Paraganglionic Tumors
- Genetic and Kidney Cyst Diseases
- Glioma Diagnosis and Treatment
- Renal and related cancers
- Bone Tumor Diagnosis and Treatments
- Epigenetics and DNA Methylation
- Cancer-related Molecular Pathways
- Pituitary Gland Disorders and Treatments
- Ocular Oncology and Treatments
- Renal cell carcinoma treatment
- Cancer, Lipids, and Metabolism
- Head and Neck Surgical Oncology
- Sarcoma Diagnosis and Treatment
- Ear and Head Tumors
- Acute Myeloid Leukemia Research
- Meningioma and schwannoma management
- Medical Imaging and Pathology Studies
- MRI in cancer diagnosis
- Fibroblast Growth Factor Research
- Lanthanide and Transition Metal Complexes
- Growth Hormone and Insulin-like Growth Factors
- Advanced MRI Techniques and Applications
- Hedgehog Signaling Pathway Studies
University of Freiburg
2003-2025
Vrije Universiteit Brussel
2020-2024
University Medical Center Freiburg
2009-2020
PHV Dialysezentrum
2020
Universitair Ziekenhuis Brussel
2018-2019
National Institute of Neurological Disorders and Stroke
2005-2012
National Institutes of Health
2005-2011
Cleveland Clinic
2008
Queen's University
2001
BackgroundAs we emerge into the genomic medicine era, epidemiology of diseases is taken for granted. Accurate prevalence figures, especially rare (RDs, ≤50/100 000), will become even more important purposes health care and societal planning. We noticed that numbers affected individuals in regionally established registries mainly hereditary RDs do not align with published estimated expected figures. therefore hypothesized such non-population-based means overestimate sought to address this by...
McCune-Albright syndrome (MAS) is caused by sporadic mutations of the GNAS. Patients exhibit features acromegaly. In most patients, GH-secreting pituitary adenomas have been held responsible for this presentation. However, surgical adenomectomy rarely eliminates excess GH production.The aim study was to elucidate pathology in patients with MAS and explain basis failure eliminate hypersecretion.We conducted a case series at National Institutes Health.Interventions included medical therapy...
Despite the common occurrence and frequent clinical effects of peritumoral cysts in central nervous system (CNS), mechanism underlying their development evolution is not understood. Because they commonly produce because serial magnetic resonance imaging (MRI) obtained von Hippel–Lindau disease patients, hemangioblastomas provide an opportunity to examine pathophysiology CNS cyst formation. Serial MRI was correlated with findings 16 patients 22 (11 spinal cord; 11 cerebellar) that were...
Abstract Hemangioblastomas are central nervous system (CNS) tumors of unknown histogenesis, which can occur sporadically or in von Hippel-Lindau disease. composed neoplastic “stromal” cells origin, accompanied by intensive reactive angiogenesis. Failure to specify the cytologic origin stromal cell has precluded development nonsurgical therapies and limits understanding its basic biology. We report that express proteins (Scl, brachyury, Csf-1R, Gata-1, Flk-1, Tie-2) characterize embryonic...
<b><i>Background:</i></b> The role of autosomal dominant polycystic kidney disease (ADPKD) as a risk factor for renal cell carcinoma (RCC) is still under discussion. Data on prevalence RCC in ADPKD are limited, especially large population scale. aim this study was to analyze the kidneys and characterize clinical features coincidence. <b><i>Methods:</i></b> Based our histopathological registry Else Kröner-Fresenius Registry, we retrospectively...
Endolymphatic sac tumors (ELSTs) are, with a prevalence of up to 16%, component von Hippel-Lindau (VHL) disease. Data from international registries regarding heritable fraction and characteristics, germline VHL mutation frequency, are lacking.Systematic registration ELSTs centers otorhinolaryngology multidisciplinary centers' was performed. Molecular genetic analyses the gene were offered all patients.Our population-based registry comprised 93 patients ELST 1789 VHL. The mutations in...
Abstract Introduction Hemangioblastomas are rare, histologically benign, highly vascularized tumors of the brain, spinal cord, and retina, occurring sporadically or associated with autosomal dominant inherited von Hippel-Lindau (VHL) disease. Children adults VHL disease have one > 300 known germline mutations gene located on chromosome 3. They prone to develop hemangioblastomas, extremely rarely starting at age 6, 12–18, and, typically almost all, as adults. There is a plethora...
<h3>OBJECTIVES</h3> Haemangioblastoma of the CNS occurs as a sporadic entity and manifestation autosomal dominant von Hippel-Lindau disease with major additional components retinal angioma, renal cancer, pheochromocytoma. Genetic testing for germline mutations predisposing to has been available since identification <i>VHL </i>tumour suppressor gene. The impact this was evaluated in patients haemangioblastomas seen centre. <h3>METHODS</h3> A register database symptomatic last 15 years...
Pheochromocytomas arise sporadically and as a component tumor of the inherited cancer syndromes von Hippel-Lindau disease (VHL), multiple endocrine neoplasia type 2 (MEN 2), 1 neurofibromatosis. Germline mutations VHL suppressor gene (VHL) are responsible for VHL, germline RET protooncogene associated with MEN 2. The present study was conducted to examine large series 36 VHL-related pheochromocytomas somatic alterations loss heterozygosity (LOH) markers on chromosome arms 1p, 3p, 22q. For...
Hemangioblastomas of the central nervous system are rare vascular tumors that can occur as sporadic lesions or component autosomal dominant von Hippel-Lindau disease. With availability magnetic resonance imaging, asymptomatic detected more frequently, especially among patients with disease, and questions whether when these should be treated arise. To identify surgical outcomes timing surgery for intramedullary hemangioblastomas, we retrospectively analyzed data a series 28 consecutive whom...
Abstract Background Surgical resection of prolactinomas resistant to dopamine agonists is frequently incomplete due fibrotic changes the tumour under pharmacological therapy. In order identify a subgroup patients who may benefit from early surgery, we thought investigate possible predictive factors resistance agonists. Methods We retrospectively analyzed database Belgian tertiary reference center for with pituitary tumours 2014 2016. The groups interest were agonist responsive and...
Cerebellar haemangioblastoma occurs sporadically or as a component tumour of autosomal dominant von Hippel-Lindau disease. Biallelic inactivation the VHL suppressor gene, which is located on chromosome 3p, has been shown to be involved in pathogenesis both entities. Mechanisms are intragenic mutations, mitotic recombination events, and hypermethylation promoter region. The systematic complete examination these genetic epigenetic phenomena large series disease related sporadic...
Patients with hereditary tumor syndromes undergo periodical magnetic resonance imaging (MRI) screening Gadolinium contrast. accumulation has recently been described in the central nervous system after repeated administrations. The prevalence and rate of different subgroups patients are unknown. Neither mechanism nor clinical impact. This may cause uncertainty about screening. To explore subgroups, we retrospectively analyzed MRIs von Hippel-Lindau disease (VHL) Tuberous Sclerosis Complex...
Hereditary tumor predisposition syndromes pose a challenge for early detection and timely treatment of tumors. In von Hippel-Lindau disease, desirable personalized surveillance programs are lacking due to insufficient data on genotype-specific risk profiles individual mutations. To describe neoplastic carriers pathogenic likely VHL germline mutations, our observational study recruited 1350 participants from 40 centers worldwide. 432 different mutations were observed, with p.Asn78Ser,...
To evaluate the growth kinetics of renal cell carcinoma (RCC) in von Hippel-Lindau (VHL) disease a large trial by CT/MRI scan. VHL is multisystemic disorder predisposing to cysts and cancer. There general assumption that VHL-associated RCC presents slower rates than sporadic RCC.We describe 96 tumours 64 patients with analysed germline mutation (54/64 treated, 10/64 active surveillance) over mean follow-up 54.9 months. We calculated tumour volume, rate, multiplication volume per year...
Abstract Meningiomas are classified into three groups (benign, atypical, and anaplastic) based on morphologic characteristics. Atypical meningiomas, which WHO grade 2 tumors, anaplastic 3 exhibit an increased risk of recurrence premature death compared with benign 1 tumors. Although atypical meningiomas account for &lt;10% all it can be difficult to distinguish them from by criteria alone. We used selective tissue microdissection examine 24 human did two-dimensional gel electrophoresis...
Abstract The von Hippel-Lindau (VHL) disease is caused by VHL germ line mutation. Inactivation of the wild-type copy gene leads to up-regulation hypoxic response and tumor formation within central nervous system (CNS), kidneys, pancreas, adrenal glands, epididymis, broad ligament, endolymphatic sac/petrous bone. Endolymphatic sac tumors (ELST) have been proposed be derived from epithelium, but other possible structures origin implicated. To clarify anatomic cellular ELSTs, we did a...