Search Results - "Schrimpf, Daniel"
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Practical implementation of DNA methylation and copy-number-based CNS tumor diagnostics: the Heidelberg experience
Published in Acta neuropathologica (01-08-2018)“…Recently, we described a machine learning approach for classification of central nervous system tumors based on the analysis of genome-wide DNA methylation…”
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IDH mutant diffuse and anaplastic astrocytomas have similar age at presentation and little difference in survival: a grading problem for WHO
Published in Acta neuropathologica (01-06-2015)“…The WHO 2007 classification of tumors of the CNS distinguishes between diffuse astrocytoma WHO grade II (A II WHO2007 ) and anaplastic astrocytoma WHO grade…”
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Prognostic impact of genetic alterations and methylation classes in meningioma
Published in Brain pathology (Zurich, Switzerland) (01-03-2022)“…Meningiomas are classified based on histological features, but genetic and epigenetic features are emerging as relevant biomarkers for outcome prediction and…”
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Next-generation sequencing in routine brain tumor diagnostics enables an integrated diagnosis and identifies actionable targets
Published in Acta neuropathologica (01-06-2016)“…With the number of prognostic and predictive genetic markers in neuro-oncology steadily growing, the need for comprehensive molecular analysis of…”
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Pan-mutant IDH1 inhibitor BAY 1436032 for effective treatment of IDH1 mutant astrocytoma in vivo
Published in Acta neuropathologica (01-04-2017)“…Mutations in codon 132 of isocitrate dehydrogenase ( IDH ) 1 are frequent in diffuse glioma, acute myeloid leukemia, chondrosarcoma and intrahepatic…”
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Methylation array profiling of adult brain tumours: diagnostic outcomes in a large, single centre
Published in Acta neuropathologica communications (20-02-2019)“…The introduction of the classification of brain tumours based on their DNA methylation profile has significantly changed the diagnostic approach for cases with…”
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Methylation-based classification of benign and malignant peripheral nerve sheath tumors
Published in Acta neuropathologica (01-06-2016)“…The vast majority of peripheral nerve sheath tumors derive from the Schwann cell lineage and comprise diverse histological entities ranging from benign…”
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Infratentorial IDH-mutant astrocytoma is a distinct subtype
Published in Acta neuropathologica (01-10-2020)“…Diffuse IDH-mutant astrocytic tumors are rarely diagnosed in the cerebellum or brainstem. In this multi-institutional study, we characterized a series of…”
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Routine RNA sequencing of formalin-fixed paraffin-embedded specimens in neuropathology diagnostics identifies diagnostically and therapeutically relevant gene fusions
Published in Acta neuropathologica (01-11-2019)“…Molecular markers have become pivotal in brain tumor diagnostics. Mutational analyses by targeted next-generation sequencing of DNA and array-based DNA…”
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Genomic characterization of DICER1-associated neoplasms uncovers molecular classes
Published in Nature communications (25-03-2023)“…DICER1 syndrome is a tumor predisposition syndrome that is associated with up to 30 different neoplastic lesions, usually affecting children and adolescents…”
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Integrated Genomic Classification of Melanocytic Tumors of the Central Nervous System Using Mutation Analysis, Copy Number Alterations, and DNA Methylation Profiling
Published in Clinical cancer research (15-09-2018)“…In the central nervous system, distinguishing primary leptomeningeal melanocytic tumors from melanoma metastases and predicting their biological behavior…”
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Malignant Transformation of a Dysembryoplastic Neuroepithelial Tumor (DNET) Characterized by Genome-Wide Methylation Analysis
Published in Journal of neuropathology and experimental neurology (01-04-2016)“…Dysembryoplastic neuroepithelial tumors (DNET) are considered to be rare, benign, and associated with chronic epilepsy. We present the case of a 28-year-old…”
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Comparison of transcriptome profiles between medulloblastoma primary and recurrent tumors uncovers novel variance effects in relapses
Published in Acta neuropathologica communications (12-01-2023)“…Nowadays medulloblastoma (MB) tumors can be treated with risk-stratified approaches with up to 80% success rate. However, disease relapses occur in…”
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DNA methylation‐based profiling of bone and soft tissue tumours: a validation study of the ‘DKFZ Sarcoma Classifier’
Published in The journal of pathology. Clinical research (01-07-2021)“…Diagnosing bone and soft tissue neoplasms remains challenging because of the large number of subtypes, many of which lack diagnostic biomarkers. DNA…”
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Molecular analysis of pediatric CNS-PNET revealed nosologic heterogeneity and potent diagnostic markers for CNS neuroblastoma with FOXR2-activation
Published in Acta neuropathologica communications (03-02-2021)“…Primitive neuroectodermal tumors of the central nervous system (CNS-PNETs) are highly malignant neoplasms posing diagnostic challenge due to a lack of defining…”
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Molecular Transition of an Adult Low-Grade Brain Tumor to an Atypical Teratoid/Rhabdoid Tumor Over a Time-Course of 14 Years
Published in Journal of neuropathology and experimental neurology (01-08-2017)“…Atypical teratoid/rhabdoid tumor (AT/RT) of the central nervous system is a highly malignant, pediatric brain tumor typically arising de novo. Inactivation of…”
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EpiDiP/NanoDiP: a versatile unsupervised machine learning edge computing platform for epigenomic tumour diagnostics
Published in Acta neuropathologica communications (04-04-2024)“…DNA methylation analysis based on supervised machine learning algorithms with static reference data, allowing diagnostic tumour typing with unprecedented…”
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Reference on copy number variations in pleomorphic xanthoastrocytoma: Implications for diagnostic approach
Published in Free Neuropathology (01-11-2023)“…Pleomorphic xanthoastrocytoma (PXA) poses a diagnostic challenge. The present study relies on methylation-based predictions and focuses on copy number…”
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Genome-wide methylation profiling and copy number analysis in atypical fibroxanthomas and pleomorphic dermal sarcomas indicate a similar molecular phenotype
Published in Clinical sarcoma research (14-02-2019)“…Atypical fibroxanthomas (AFX) and pleomorphic dermal sarcomas (PDS) are lesions of the skin with overlapping histologic features and unspecific molecular…”
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Heterogeneity of DNA methylation profiles and copy number alterations in 10782 adult-type glioblastomas, IDH-wildtype
Published in Free Neuropathology (2024)“…The morphological patterns leading to the diagnosis of glioblastoma may also commonly be observed in several other distinct tumor entities, which can result in…”
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