Pascal D. Johann
A5069803667- Chromatin Remodeling and Cancer
- Cancer Mechanisms and Therapy
- Glioma Diagnosis and Treatment
- Childhood Cancer Survivors' Quality of Life
- Radiation Therapy and Dosimetry
- Testicular diseases and treatments
- Protein Degradation and Inhibitors
- Gestational Trophoblastic Disease Studies
- interferon and immune responses
- Neuroblastoma Research and Treatments
- Cancer Genomics and Diagnostics
- Hedgehog Signaling Pathway Studies
- Epigenetics and DNA Methylation
- Sarcoma Diagnosis and Treatment
- Tumors and Oncological Cases
- Mechanisms of cancer metastasis
- Renal and related cancers
- Adrenal and Paraganglionic Tumors
- RNA modifications and cancer
- Neurofibromatosis and Schwannoma Cases
- Radiomics and Machine Learning in Medical Imaging
- Genomics and Chromatin Dynamics
- Peptidase Inhibition and Analysis
- Cancer-related gene regulation
- CAR-T cell therapy research
University Hospital Augsburg
2020-2025
University of Augsburg
2022-2025
German Cancer Research Center
2015-2024
Heidelberg University
2015-2024
Children's Cancer Center
2021-2024
Bayer (Germany)
2024
Cancer Research Center
2024
Hopp Children's Cancer Center Heidelberg
2016-2023
University Hospital Heidelberg
2014-2023
Deutschen Konsortium für Translationale Krebsforschung
2016-2022
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....
Abstract Sarcomas are malignant soft tissue and bone tumours affecting adults, adolescents children. They represent a morphologically heterogeneous class of some entities lack defining histopathological features. Therefore, the diagnosis sarcomas is burdened with high inter-observer variability misclassification rate. Here, we demonstrate classification using machine learning classifier algorithm based on array-generated DNA methylation data. This sarcoma trained dataset 1077 profiles from...
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 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...
Extra-cranial malignant rhabdoid tumors (MRTs) and cranial atypical teratoid RTs (ATRTs) are heterogeneous pediatric cancers driven primarily by SMARCB1 loss. To understand the genome-wide molecular relationships between MRTs ATRTs, we analyze multi-omics data from 140 161 ATRTs. We detect similarities MYC subgroup of ATRTs (ATRT-MYC) extra-cranial MRTs, including global DNA hypomethylation overexpression HOX genes involved in mesenchymal development, distinguishing them other ATRT subgroups...
The diagnosis of sinonasal tumors is challenging due to a heterogeneous spectrum various differential diagnoses as well poorly defined, disputed entities such undifferentiated carcinomas (SNUCs). In this study, we apply machine learning algorithm based on DNA methylation patterns classify with clinical-grade reliability. We further show that SNUC morphology are not their current terminology suggests but rather reassigned four distinct molecular classes defined by epigenetic, mutational and...
Abstract Rhabdoid phenotype and loss of SMARCB1 expression in a brain tumor are characteristic features atypical teratoid/rhabdoid tumors (ATRT). Rare non‐rhabdoid showing cribriform growth pattern have been designated neuroepithelial (CRINET). Small case series suggest that CRINETs may relatively favorable prognosis. However, the long‐term outcome is unclear it remains uncertain whether CRINET represents distinct entity or variant ATRT. Therefore, 10 were clinically molecularly...
Abstract Atypical teratoid/rhabdoid tumors (ATRTs) are very aggressive childhood malignancies of the central nervous system. The underlying genetic cause inactivating bi-allelic mutations in SMARCB1 or (rarely) SMARCA4. ATRT-SMARCA4 have been associated with a higher frequency germline mutations, younger age, and an inferior prognosis comparison to mutated cases. Based on their DNA methylation profiles transcriptomics, ATRTs divided into three distinct molecular subgroups: ATRT-TYR,...
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...
Report relevance of molecular groups to clinicopathologic features, germline
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...
BACKGROUND: To describe therapeutic approaches in children with atypical Teratoid Rhabdoid Tumours (ATRT) France.METHODS: Observational study including all less than 18 years old diagnosed ATRT France between 2009 and 2011.RESULTS: Forty seven were included this retrospective study.Six patients received no curative treatment while forty-one had a project.Median age was 1.5 (range 0-16).The disease disseminated 10 patients.Surgical resection complete 21 cases.Chemotherapy administered 41...