A5005467583- Ocular Oncology and Treatments
- Childhood Cancer Survivors' Quality of Life
- Radiation Therapy and Dosimetry
- Testicular diseases and treatments
- Cancer-related Molecular Pathways
- Brain Metastases and Treatment
- Glioma Diagnosis and Treatment
- Head and Neck Surgical Oncology
- Neuroblastoma Research and Treatments
- interferon and immune responses
- Nonmelanoma Skin Cancer Studies
- Cancer Genomics and Diagnostics
- Corneal Surgery and Treatments
- Retinal Diseases and Treatments
- DNA Repair Mechanisms
- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Health and Conflict Studies
- Ocular Disorders and Treatments
- PARP inhibition in cancer therapy
- Genetic Syndromes and Imprinting
- Ocular Infections and Treatments
- Epigenetics and DNA Methylation
- Ocular Diseases and Behçet’s Syndrome
- Hedgehog Signaling Pathway Studies
Essen University Hospital
2019-2025
University of Duisburg-Essen
2020-2024
Society of Paediatric Oncology and Haematology
2021-2023
German Cancer Research Center
2020-2021
Deutschen Konsortium für Translationale Krebsforschung
2021
National Center for Tumor Diseases
2021
Heidelberg University
2020-2021
Universitätskinderklinik
2020
Zentrum für Kinderheilkunde
2019
Abstract INFORM is a prospective, multinational registry gathering clinical and molecular data of relapsed, progressive, or high-risk pediatric patients with cancer. This report describes long-term follow-up 519 in whom alterations were evaluated according to predefined seven-scale target prioritization algorithm. Mean turnaround time from sample receipt was 25.4 days. The highest priority level observed 42 (8.1%). Of these, 20 received matched targeted treatment median progression-free...
Abstract Background GD2-directed immunotherapy is highly effective in the treatment of high-risk neuroblastoma (NB), and might be an interesting target also other tumors. Methods The German-Austrian Retinoblastoma Registry, Essen, was searched for patients, who were treated with anti-GD2 monoclonal antibody (mAb) dinutuximab beta (Db) order to evaluate toxicity, response outcome these patients. Additionally, we evaluated antibody-dependent cell-mediated cytotoxicity (ADCC)...
Abstract Background Genomics enables individualized diagnosis and treatment, but large challenges remain to functionally interpret rare variants. To date, only one causative variant has been described for KCNK9 imprinting syndrome (KIS). The genotypic phenotypic spectrum of KIS yet be the precise mechanism disease fully understood. Methods This study discovers mechanisms underlying (KIS) by describing 15 novel alterations from 47 KIS-affected individuals. We use clinical genetics...
Abstract Introduction Advanced intraocular retinoblastoma can be cured by enucleation, but spread of cells beyond the natural limits eye is related to a high mortality. Adjuvant therapy after enucleation has been shown prevent metastasis in children with risk factors for extraocular retinoblastoma. However, histological criteria and adjuvant treatment regimens vary there no unifying consensus on optimal choice treatment. Method Data guidelines European referral centres were collected an...
Retinoblastoma, although rare, is one of the most common intraocular malignancies worldwide. Its prognosis has improved significantly in past few decades, thanks to modern treatments, like systemic, intra-arterial, and intravitreal chemotherapy. However, regarding survival, there are significant differences between high- low-income countries, eye salvage still a challenge worldwide, treatment-related toxicity needs be carefully sufficiently managed. To appraise strength supporting evidence,...
Retinoblastoma are childhood eye tumors arising from retinal precursor cells. Two distinct retinoblastoma subtypes with different clinical behavior have been described based on gene expression and methylation profiling. Using consensus clustering of DNA analysis 61 retinoblastomas, we identify a MYCN-driven cluster subtype 2 retinoblastomas characterized by hypomethylation high genes involved in protein synthesis. Subtype outside the mesodermal development, including NKX2-5. Knockdown MYCN...
Background To demonstrate histopathological findings in retinoblastoma eyes enucleated after intra-arterial chemotherapy (IAC) with special emphasis on vascular toxicity and local tumour control. Methods Retrospective study a consecutive series of 23 IAC where work-up was available. Results From November 2010 to June 2019 were the attempt eye salvaging therapy using melphalan. first line treatment nine salvage 14 eyes. Doses melphalan ranged from 3 7.5 mg, whereby strict protocol...
<b><i>Purpose:</i></b> The aim of this study was to report the efficacy combined intravitreal chemotherapy (IVC) and ruthenium-106 brachytherapy in retinoblastoma, either as first-line or second-line treatment, following systemic chemoreduction intra-arterial chemotherapy. <b><i>Methods:</i></b> Retrospective data 18 eyes from patients treated with IVC August 2014 December 2019 were collected. <b><i>Results:</i></b>...
PurposeTo evaluate the effectiveness of baseline screening and follow-up with MRI to detecting trilateral retinoblastoma (TRb) assessing risk TRb development.DesignProspective multicenter cohort studyMethodsA total 607 patients from 2012 through 2022 were included followed up until 1-9-2023. At each center a neuroradiologist categorized pineal glands on scans into four groups: (A) normal, (B) cystic gland, (C) suspicious or (D) TRb. Different schedules assigned category. Categories...
Abstract Retinoblastoma (RB) the most common intraocular malignancy in children poses a significant challenge as traditional tissue biopsies are not feasible. Due to its critical location within eye and high risk of tumor seeding, clinicians limited performing molecular analysis-based stratification prior enucleation. In this study, we explored potential aqueous humor (AH) source for minimally invasive liquid biopsies, aiming establish profiling methodology circulating DNA (ctDNA)...
Despite the increased risk of subsequent primary tumors (SPTs) external beam radiation (EBRT) may be only therapeutic option to preserve a retinoblastoma eye. Due their physical properties, proton therapy (PBT) offers possibility use effectiveness EBRT in tumor treatment and decisively reduce treatment-related morbidity. We report our experiences PBT as rescue retrospectively studied cohort 15 advanced eyes final for eye-preserving therapy. The average age at initiation was 35 (14–97)...
Retinoblastoma and other eye tumors in childhood are rare diseases. Many the first signs of a genetic tumor predisposition syndrome affected children carry higher risk developing cancers later life. Clinical data all with diagnosed between 2013–2018 Germany Austria were collected multicenter prospective observational study. In five years, 300 recruited into study: 287 retinoblastoma, 7 uveal melanoma, 3 ciliary body medulloepithelioma, 2 retinal astrocytoma, 1 meningioma optic nerve...
Advanced localized retinoblastoma can be cured by enucleation, but extraocular spread of cells is associated with a high mortality. Risk-stratified adjuvant treatment chemotherapy and radiotherapy has been shown to reduce the risk for relapse in children histopathological factors. Data 184 patients primary enucleation were collected prospective, multicenter, observational study between 2013 2020. The clinical characteristics evaluated as factors progression-free overall survival rates...
Retinoblastoma (RB) is the most common form of eye cancer experienced in childhood. Its aggressive malignancy associated with excellent survival rates high-income countries; however, prognosis third-world countries less favorable. Early diagnosis can maximize patient's visual outcomes and their rate. Therapy should be conducted highly specialized treatment centers. Intravenous chemotherapy (IVC) bilaterally affected children currently forms majority therapy. Local destructive procedures...
Constitutional haploinsufficiency of the RB1 gene causes heritable retinoblastoma, a tumor predisposition syndrome. Patients with retinoblastoma develop multiple retinoblastomas early in childhood and other extraocular tumors later life. pathogenic variants are heterogeneous, few genotype-phenotype correlations have been described. To identify further relationships, we developed variant effect classification (REC), which considers each variant’s predicted effects on common causal mediator,...
Histopathological, immunohistochemistry- and molecular pathology-based diagnostics to distinguish metastasis of retinoblastoma from subsequent primary malignancy in patients with heritable retinoblastoma.An eight year-old girl presented tibial pain bone lesion five years after multimodal treatment bilateral retinoblastoma, initially clinically suspicious osteomyelitis. Histopathological examination biopsy specimen revealed a highly proliferative small blue round cell tumor mimicking Ewing's...
Abstract Purpose This study aims to determine local diagnostic reference levels (LDRLs) of intra-arterial chemotherapy (IAC) procedures pediatric patients with retinoblastoma (RB) provide data for establishing (DRLs) in interventional radiology (IR). Methods In a retrospective design, LDRLs and achievable dose (AD) were assessed children undergoing superselective IAC RB treatment. All performed at the flat-panel angiography systems (I) ArtisQ biplane (Siemens Healthineers) (II) Allura Xper...
<b><i>Introduction:</i></b> Given the rarity of retinoblastoma and consequences accidental vitrectomy in event misdiagnosis, reporting on clinical experience this area is important. <b><i>Objective:</i></b> The aim study was to analyse management complications with a focus local orbital recurrence metastatic disease 10 children vitrectomized an undetected eye. <b><i>Methods:</i></b> This retrospective descriptive case...
Abstract Background Eye‐preserving therapy in retinoblastoma comprises systemic chemotherapy, but studies analyzing the efficacy of different chemotherapy regimens are scarce. Methods The and side effects two eye‐preserving containing either vincristine, etoposide, carboplatin (VEC) or cyclophosphamide, (CyVEC) were compared a prospective non‐interventional observational study including children diagnosed with between 2013 2019 Germany Austria. Event‐free eye survival (EFES) overall (OES)...
Introduction: The aim of the study was to analyze results intraocular surgery in treated retinoblastoma eyes and assess long-term with a priority on local recurrences, secondary enucleation, metastases. Methods: Retrospective noncomparative case series. Results: From March 1964 January 2020, 42 40 patients underwent surgery. Time interval between last therapy 9.5 years (mean: 114 months; median: 54.5 months). 31 were for radiogenic cataract formation gain visual acuity 61.3%. One child...
Background: Retinoblastoma (RB) is the most common eye cancer in children that has a high mortality rate when left untreated. Mouse models for retinoblastoma have been established but are time- and cost-intensive. The aim of this work was to evaluate an orthotopic transplantation model zebrafish also allows tracking migratory routes explore advantages disadvantages with respect drug testing. Methods: Three fluorescence-labeled cell lines (RB355, WERI-RB-1, Y79) were injected into two-day-old...