Reiner Siebert
A5090007935- Lymphoma Diagnosis and Treatment
- Chronic Lymphocytic Leukemia Research
- Chromatin Remodeling and Cancer
- Cancer Genomics and Diagnostics
- Cancer Mechanisms and Therapy
- Viral-associated cancers and disorders
- Epigenetics and DNA Methylation
- RNA modifications and cancer
- Genomic variations and chromosomal abnormalities
- CAR-T cell therapy research
- Acute Lymphoblastic Leukemia research
- Chronic Myeloid Leukemia Treatments
- Acute Myeloid Leukemia Research
- CNS Lymphoma Diagnosis and Treatment
- Gestational Trophoblastic Disease Studies
- Immune Cell Function and Interaction
- Genetic factors in colorectal cancer
- Genomics and Chromatin Dynamics
- Monoclonal and Polyclonal Antibodies Research
- RNA Research and Splicing
- Immunodeficiency and Autoimmune Disorders
- Multiple Myeloma Research and Treatments
- Protein Degradation and Inhibitors
- Mechanisms of cancer metastasis
- Cancer-related molecular mechanisms research
Universität Ulm
2016-2025
University Hospital Ulm
2016-2024
Robert Bosch Hospital
2024
University Medical Center
2019-2024
German Center for Pediatric and Adolescent Rheumatology
2024
Kiel University
2014-2023
University Hospital Schleswig-Holstein
2013-2023
University of Lübeck
2013-2023
University of Toronto
2020
University Hospital Cologne
2016
Abstract Transcript alterations often result from somatic changes in cancer genomes 1 . Various forms of RNA have been described cancer, including overexpression 2 , altered splicing 3 and gene fusions 4 ; however, it is difficult to attribute these underlying genomic owing heterogeneity among patients tumour types, the relatively small cohorts for whom samples analysed by both transcriptome whole-genome sequencing. Here we present, our knowledge, most comprehensive catalogue...
DNA methylation patterns are altered in numerous diseases and often correlate with clinically relevant information such as disease subtypes, prognosis drug response. With suitable assays after validation large cohorts, associations can be exploited for clinical diagnostics personalized treatment decisions. Here we describe the results of a community-wide benchmarking study comparing performance all widely used methods analysis that compatible routine use. We shipped 32 reference samples to...
Atypical teratoid/rhabdoid tumors (AT/RTs) are highly aggressive brain of early childhood poorly responding to therapy. The majority cases show inactivation SMARCB1 (INI1, hSNF5, BAF47), a core member the adenosine triphosphate (ATP)-dependent SWI/SNF chromatin-remodeling complex. We here report case supratentorial AT/RT in 9-month-old boy, which showed retained staining on immunohistochemistry and lacked genetic alterations SMARCB1. Instead, tumor loss protein expression another complex...
Primary lymphomas of the central nervous system (PCNSL) are mainly diffuse large B-cell (DLBCLs) confined to (CNS). Molecular drivers PCNSL have not been fully elucidated. Here, we profile and compare whole-genome transcriptome landscape 51 CNS (CNSL) 39 follicular lymphoma 36 DLBCL cases outside CNS. We find recurrent mutations in JAK-STAT, NFkB, receptor signaling pathways, including hallmark MYD88 L265P (67%) CD79B (63%), CDKN2A deletions (83%). PCNSLs exhibit significantly more focal...
Circulating progenitor cells home to sites of postnatal neovascularization and differentiate into endothelial but questions remain regarding the source these cells. Indeed, a recent study suggests that nonbone marrow-derived may be even more important than bone in setting transplant arteriosclerosis. Thus, we aimed thoroughly investigate contribution for neovascularization. We exclusively identified by combining parabiosis model with reverse marrow transplantation followed hindlimb ischemia....
Chromosomal translocations affecting the MYC oncogene are biological hallmark of Burkitt lymphomas but also occur in a subset other mature B-cell lymphomas. If accompanied by chromosomal break targeting BCL2 and/or BCL6 these translocation-positive (MYC+) called double-hit lymphomas, otherwise term single-hit is applied. In order to characterize features MYC+ than lymphoma we explored, after exclusion molecular as defined gene expression profiling, molecular, pathological and clinical...
Abstract Atypical teratoid/rhabdoid tumor (AT/RT) is a rare malignant pediatric brain characterized by genetic alterations affecting the SMARCB1 ( hSNF5/INI1 ) locus in chromosome band 22q11.2. To identify potential additional alterations, high‐resolution genome‐wide analysis was performed using molecular inversion probe single‐nucleotide polymorphism (MIP SNP) assay (Affymetrix OncoScan formalin‐fixed paraffin‐embedded express) on DNA isolated from 18 archival samples. Alterations could be...
The evolution and progression of multiple myeloma its precursors over time is poorly understood. Here, we investigate the landscape timing mutational processes shaping in a large cohort 89 whole genomes 973 exomes. We identify eight processes, including signature caused by exposure to melphalan. Reconstructing chronological activity each signature, estimate that initial transformation germinal center B-cell usually occurred during first 2
Genomic imprinting results from the resistance of germline epigenetic marks to reprogramming in early embryo for a small number mammalian genes. Genetic, or environmental insults that prevent imprints evading may result disorders, which impact growth, development, behaviour and metabolism. We aimed identify genetic defects causing disorders by whole-exome sequencing families with one more members affected multilocus disturbance.Whole-exome was performed 38 pedigrees where probands had...
Abstract Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, most cancers outside the sex organs. Efforts to link these clinical specific molecular features focused on somatic mutations within coding regions genome. Here we report a pan-cancer analysis whole genomes 1983 tumours 28 subtypes as part ICGC/TCGA Pan-Cancer Analysis Whole Genomes (PCAWG) Consortium. We both confirm results exome studies, also uncover previously undescribed...
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...
While survival has improved for Burkitt lymphoma patients, potential differences in outcome between pediatric and adult patients remain unclear. In both age groups, remains poor at relapse. Therefore, we conducted a comparative study large cohort, including 191 cases 97 samples from adults. TP53 CCND3 mutation frequencies are not related, showed higher frequency of mutations ID3, DDX3X, ARID1A SMARCA4, while several genes such as BCL2 YY1AP1 almost exclusively mutated patients. An unbiased...
Abstract The fifth edition of the World Health Organization Classification Haematolymphoid Tumours (WHO‐HAEM5) is product an evidence‐based evolution revised fourth with wide multidisciplinary consultation. Nonetheless, while every classification incorporates scientific advances and aims to improve upon prior version, medical knowledge remains incomplete individual neoplasms may not be easily subclassified in a given scheme. Thus, optimal requires ongoing study, there are certain aspects...