Elke Pfaff
A5078256952- Glioma Diagnosis and Treatment
- Neuroblastoma Research and Treatments
- Childhood Cancer Survivors' Quality of Life
- Radiation Therapy and Dosimetry
- Testicular diseases and treatments
- Cancer Genomics and Diagnostics
- Hedgehog Signaling Pathway Studies
- Brain Metastases and Treatment
- Chromatin Remodeling and Cancer
- Cancer, Hypoxia, and Metabolism
- Epigenetics and DNA Methylation
- Meningioma and schwannoma management
- Cancer-related Molecular Pathways
- Ocular Oncology and Treatments
- Cancer Immunotherapy and Biomarkers
- Cancer-related molecular mechanisms research
- Sarcoma Diagnosis and Treatment
- DNA Repair Mechanisms
- Radiomics and Machine Learning in Medical Imaging
- Lung Cancer Treatments and Mutations
- Neurofibromatosis and Schwannoma Cases
- Renal and related cancers
- Histone Deacetylase Inhibitors Research
- Genetic factors in colorectal cancer
- Lung Cancer Research Studies
National Center for Tumor Diseases
2018-2025
University Hospital Heidelberg
2016-2025
Heidelberg University
2016-2025
German Cancer Research Center
2016-2025
Hopp Children's Cancer Center Heidelberg
2018-2025
Deutschen Konsortium für Translationale Krebsforschung
2016-2024
DKFZ-ZMBH Alliance
2022
Inserm
2021
Oxford University Press (United Kingdom)
1984-2018
Children's Hospital Colorado
2018
Pan-cancer analyses that examine commonalities and differences among various cancer types have emerged as a powerful way to obtain novel insights into biology. Here we present comprehensive analysis of genetic alterations in pan-cancer cohort including 961 tumours from children, adolescents, young adults, comprising 24 distinct molecular cancer. Using standardized workflow, identified marked terms mutation frequency significantly mutated genes comparison previously analysed adult cancers....
Medulloblastoma is the most common brain tumour in children; using whole-genome sequencing of samples authors show that clinically challenging Group 3 and 4 tumours can be tetraploid, reveal expression first medulloblastoma fusion genes identified. malignant children. Four papers published 2 August 2012 issue Nature use other techniques to produce a detailed picture genetics genomics this condition. Notable findings include identification recurrent mutations not previously implicated...
Reports detailing the prognostic impact of TP53 mutations in medulloblastoma offer conflicting conclusions. We resolve this issue through inclusion molecular subgroup profiles.We determined affiliation, mutation status, and clinical outcome a discovery cohort 397 medulloblastomas. subsequently validated our results on an independent 156 medulloblastomas.TP53 are enriched wingless (WNT; 16%) sonic hedgehog (SHH; 21%) medulloblastomas virtually absent subgroups 3 4 tumors (P < .001). Patients...
Purpose Diffuse intrinsic pontine glioma (DIPG) is a brainstem malignancy with median survival of < 1 year. The International and European Society for Pediatric Oncology DIPG Registries collaborated to compare clinical, radiologic, histomolecular characteristics between short-term survivors (STSs) long-term (LTSs). Materials Methods Data abstracted from registry databases included patients North America, Australia, Germany, Austria, Switzerland, the Netherlands, Italy, France, United...
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...
Patients with glioblastoma without O6-methylguanine-DNA methyltransferase (MGMT) promoter hypermethylation are unlikely to benefit from alkylating chemotherapy temozolomide (TMZ). Trials aiming at replacing TMZ targeted agents in unselected patient populations have failed demonstrate any improvement of survival. Advances molecular understanding and diagnostic precision enable identification key genetic alterations a timely manner principle allow treatments compounds based on markers.The NCT...
Abstract Telomere maintenance by telomerase activation or alternative lengthening of telomeres (ALT) is a major determinant poor outcome in neuroblastoma. Here, we screen for ALT primary and relapsed neuroblastomas ( n = 760) characterize its features using multi-omics profiling. ALT-positive tumors are molecularly distinct from other neuroblastoma subtypes enriched population-based clinical sequencing study cohort cases. They display reduced ATRX/DAXX complex abundance, due to either ATRX...
Abstract DICER1 syndrome is a tumor predisposition that associated with up to 30 different neoplastic lesions, usually affecting children and adolescents. Here we identify group of mesenchymal tumors which highly syndrome, molecularly distinct from other DICER1-associated tumors. This encompasses multiple well-established clinicopathological entities can be further divided into three clinically meaningful classes designated “low-grade alteration” (LGMT DICER1), “sarcoma (SARC primary...
Purpose The role of TP53 mutations in the tumorigenesis sporadic medulloblastoma (MB) and value mutation status as a prognostic marker are not yet definitely elucidated. A recent report identified MB an adverse marker. Hence, current study was conducted to validate understand its contribution tumorigenesis. Methods comprehensive genetic analysis 310 samples performed by screening for further relating p53 immunostaining, cytogenetic aberrations, clinical variables. Results Mutation revealed...
Abstract Pineoblastoma is a rare and highly aggressive brain cancer of childhood, histologically belonging to the spectrum primitive neuroectodermal tumors. Patients with germline mutations in DICER1 , ribonuclease involved microRNA processing, have increased risk pineoblastoma, but genetic drivers sporadic pineoblastoma remain unknown. Here, we analyzed pediatric adult samples ( n = 23) using combination genome-wide DNA methylation profiling whole-exome sequencing or whole-genome...
Abstract Background Factors that drive the development of diffuse midline gliomas (DMG) are unknown. Our study aimed to determine prevalence pathogenic/likely pathogenic (P/LP) germline variants in pediatric patients with DMG. Methods We assembled an international cohort 252 DMG, including intrinsic pontine glioma (n=153), whole genome or exome sequencing. Results identified P/LP cancer predisposition genes 7.5% (19/252) patients. Tumor profiles differed, absence somatic drivers PI3K/mTOR...
Abstract Long-term complications such as radiation-induced second malignancies occur in a subset of patients following radiation-therapy, particularly relevant pediatric due to the long follow-up period case survival. Radiation-induced gliomas (RIGs) have been reported after treatment with cranial irradiation for various primary acute lymphoblastic leukemia (ALL) and medulloblastoma (MB). We perform comprehensive (epi-) genetic expression profiling RIGs arising MB (n = 23) ALL 9). Our study...