A5073481546- Chromatin Remodeling and Cancer
- Cancer Mechanisms and Therapy
- Gestational Trophoblastic Disease Studies
- Mechanisms of cancer metastasis
- Nutritional Studies and Diet
- interferon and immune responses
- Acute Lymphoblastic Leukemia research
- Sarcoma Diagnosis and Treatment
- Tumors and Oncological Cases
- PI3K/AKT/mTOR signaling in cancer
- Hedgehog Signaling Pathway Studies
- Colorectal Cancer Screening and Detection
- Cancer-related gene regulation
- Renal and related cancers
- Monoclonal and Polyclonal Antibodies Research
- Genomics and Chromatin Dynamics
- Peptidase Inhibition and Analysis
- MicroRNA in disease regulation
- Lymphoma Diagnosis and Treatment
- Glioma Diagnosis and Treatment
- Protein Degradation and Inhibitors
- Neuroendocrine Tumor Research Advances
- Childhood Cancer Survivors' Quality of Life
- Renal cell carcinoma treatment
- Cancer, Stress, Anesthesia, and Immune Response
University Hospital Augsburg
2016-2025
Children's Cancer Center
2016-2024
Cancer Research Center
2024
University Medical Center
2024
University of Augsburg
2022
Uniwersytecki Szpital Dziecięcy
2021
Copenhagen University Hospital
2019
Rigshospitalet
2019
Semmelweis University
2011-2014
Essen University Hospital
1999-2001
Abstract Background Controversy exists as to what may be defined standard of care (including markers for stratification) patients with atypical teratoid/rhabdoid tumors (ATRTs). The European Rhabdoid Registry (EU-RHAB) recruits uniformly treated and offers standardized genetic DNA methylation analyses. Methods Clinical, genetic, treatment data 143 from 13 countries were analyzed (2009–2017). Therapy consisted surgery, anthracycline-based induction, either radiotherapy or high dose...
Abstract Atypical teratoid rhabdoid tumors ( AT / RT ) are characterized by mutations and subsequent inactivation of SMARCB 1 INI 1, hSNF 5 ), a predilection for very young children an unfavorable outcome. The European Registry EU ‐ RHAB was established to generate common database establish standardized treatment regimen as the basis phase I/ II trials. Thus, genetic analyses, neuropathologic radiologic diagnoses, consensus were prospectively evaluated. From 2005 2009, 31 patients with from...
Recently, 3 molecular subgroups of atypical teratoid/rhabdoid tumor (ATRT) were identified, but little is known their clinical and magnetic resonance imaging (MRI) characteristics. A total 43 patients with subgroup status (ATRT–sonic hedgehog [SHH], n = 17; ATRT-tyrosine [TYR], 16; ATRT–myelocytomatosis oncogene [MYC], 10) retrieved from the EU-RHAB Registry analyzed for MRI features. On review, differences in preferential location confirmed, ATRT-TYR being predominantly located...
The rhabdoid tumor (RT) predisposition syndromes 1 and 2 (RTPS1 2) are rare genetic conditions rendering young children vulnerable to an increased risk of RT, malignant neoplasms affecting the kidney, miscellaneous soft-part tissues, liver central nervous system (Atypical Teratoid Rhabdoid Tumors, ATRT). Both, RTPS1&2 due pathogenic variants (PV) in genes encoding constituents BAF chromatin remodeling complex, i.e. SMARCB1 (RTPS1) SMARCA4 (RTPS2). In contrast other disorders related PVs such...
Abstract DICER1 syndrome is a rare genetic disorder that predisposes to wide spectrum of tumors. Developing surveillance protocols for this challenging because uncertainty exists about the clinical efficacy surveillance, and appraisal potential benefits harms vary. In addition, there increasing evidence germline pathogenic variants are associated with lower penetrance cancer than previously assumed. To address these issues harmonize programs within Europe, Host Genome Working Group European...
Abstract Atypical teratoid/rhabdoid tumor (ATRT) is an aggressive central nervous system characterized by loss of SMARCB1/INI1 protein expression and comprises three distinct molecular groups, ATRT–TYR, ATRT–MYC ATRT–SHH. ATRT–SHH represents the largest group heterogeneous with regard to age, location epigenetic profile. We, therefore, aimed investigate if heterogeneity within might also have biological clinical importance. Consensus clustering DNA methylation profiles confirmatory t-SNE...
Previous studies have found a positive association between Helicobacter pylori infection and colorectal adenomas. The aim of the present study was to examine this while taking possible confounding factors into account.98 serum samples were available from 182 patients with adenomas who entered case-control diet. H. status in compared hospital control group population group.H. IgG antibodies more common polyp either group, prevalence being 79% cases 62% both groups. corresponding RR 1.4...
Introduction: Malignant rhabdoid tumors (MRT) predominantly affect infants and young children. Patients below six months of age represent a particularly therapeutically challenging group. Toxicity to developing organ sites limits intensity treatment. Information on prognostic factors, genetics, toxicity treatment long-term outcomes is sparse. Methods: Clinical, genetic, data 100 patients (aged 6 at diagnosis) from 13 European countries were analyzed (2005-2020). Tumors matching blood samples...
Abstract Atypical teratoid/rhabdoid tumor (AT/RT) is a highly malignant that may not only contain rhabdoid cells but also poorly differentiated small‐round‐blue as well areas with mesenchymal or epithelial differentiation. Little known on factors associated histopathological diversity. Recent studies demonstrated three molecular subgroups of AT/RT, namely ATRT‐TYR, ATRT‐SHH, and ATRT‐MYC. We thus aimed to investigate if morphological patterns might be related subgroup status....
Abstract Extracranial rhabdoid tumours (ECRTs) are an aggressive malignancy of infancy and early childhood. The vast majority cases demonstrate inactivation SMARCB1 (ECRT ) on a background remarkably stable genome, low mutational burden, no other recurrent mutations. Rarely, ECRTs can harbour the alternative SMARCA4 instead SMARCB1. However, very few ECRT have been published to date, systematic characterization is missing from literature. In this study, we report clinical, pathological,...
Abstract Background The contribution of tumor type, multimodal treatment, and other patient‐related factors upon long‐term cognitive sequelae in infant brain survivors remains undefined. We add our retrospective analysis neuropsychological quality survival (QoS) outcome data atypical teratoid/rhabdoid tumors (ATRT) extracranial malignant rhabdoid the soft tissues (eMRT) kidneys (RTK) treated within same framework. Neuropsychological from children with ATRT were compared to non‐irradiated...
Modern treatment strategies have improved the prognosis of childhood ALL; however, still fails in 25-30% patients. Further improvement may depend on development targeted therapies. mTOR kinase, a central mediator several signaling pathways, has recently attracted remarkable attention as potential target pediatric ALL. However, limited data exists about activity mTOR. In present study, amount dependent phospho-proteins was characterized by ELISA human leukemia cell lines and lymphoblasts from...
Abstract Infantile myofibromatosis (IM), which is typically diagnosed in young children, comprises a wide clinical spectrum ranging from inconspicuous solitary soft tissue nodules to multiple disseminated tumors resulting life-threatening complications. Familial IM follows an autosomal dominant mode of inheritance and linked PDGFRB germline variants. Somatic variants were also detected multifocal lesions. associated with constitutively activate kinase activity the absence its ligand....
Atypical teratoid/rhabdoid tumors (AT/RT) are the most common malignant brain manifesting in infancy. They split into four molecular types. The major three (AT/RT-SHH, AT/RT-TYR, and AT/RT-MYC) all carry mutations SMARCB1, fourth quantitatively smaller type is characterized by SMARCA4 (AT/RT-SMARCA4). Molecular characteristics of disease recurrence or metastatic spread, which go along with a particularly dismal outcome, currently unclear. Here, we investigated tumor tissue from 26 patients...
Case reports have portrayed spinal cord atypical teratoid/rhabdoid tumor (spATRT) as an aggressive form of ATRT. We conducted a retrospective European survey to collect data on clinical characteristics, molecular biology, treatment, and outcome children with intramedullary spATRT.Scrutinizing French national series the Rhabdoid Registry database, we identified 13 patients (median age 32 months; metastatic disease at diagnosis, n = 6). Systemic postoperative chemotherapy was administered all...