Christian Hagel
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View article: A Systematic Study of Molecular Diagnosis, Treatment and Prognosis in Infant-Type Hemispheric Glioma): An Individual Patient Data Meta-analysis of 164 patients
A Systematic Study of Molecular Diagnosis, Treatment and Prognosis in Infant-Type Hemispheric Glioma): An Individual Patient Data Meta-analysis of 164 patients Open
Background Due to the novelty and rarity of infant-type hemispheric glioma (IHG), optimal treatment and factors determining clinical outcomes are yet to be established. Methods We curated a series of 164 patients with IHG; 155 identified b…
View article: Recombinant Human Neuregulin1‐β1 Significantly Reduces Schwannoma Growth in Mice
Recombinant Human Neuregulin1‐β1 Significantly Reduces Schwannoma Growth in Mice Open
Objective Schwannomas are benign tumors that arise from Schwann cells of the nerve sheath, and their management presents a significant clinical challenge, particularly in genetic conditions like NF2‐related schwannomatosis (NF2‐SWN). Altho…
View article: Surgical Measures Improving Functional Limitations of the Masticatory System, Aesthetic Deficits, and Skeletal Malformations in Neurofibromatosis Type 1‐associated Hemifacial Diffuse Plexiform Neurofibroma Complicated by Rapidly Growing Midfacial Peripheral Nerve Sheath Tumor
Surgical Measures Improving Functional Limitations of the Masticatory System, Aesthetic Deficits, and Skeletal Malformations in Neurofibromatosis Type 1‐associated Hemifacial Diffuse Plexiform Neurofibroma Complicated by Rapidly Growing Midfacial Peripheral Nerve Sheath Tumor Open
Background/Aim: Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by the development of multiple tumors, including plexiform neurofibromas (PNFs), which often affect the craniofacial region and cause significant functional…
View article: Temozolomide-based radio-chemotherapy for newly diagnosed pediatric high-grade gliomas (HIT-HGG-2007): A prospective, multicenter, single-arm, phase II trial
Temozolomide-based radio-chemotherapy for newly diagnosed pediatric high-grade gliomas (HIT-HGG-2007): A prospective, multicenter, single-arm, phase II trial Open
Background: The HIT-HGG-2007 trial investigated temozolomide (TMZ) radio-chemotherapy for pediatric patients with high-grade gliomas (pHGG) to demonstrate therapeutic non-inferiority compared to previous intensive radio-chemotherapy regime…
View article: TXNIP is a critical regulator of human cardiometabolic health
TXNIP is a critical regulator of human cardiometabolic health Open
Thioredoxin interacting protein, encoded by TXNIP , is a key mediator of glucose and lipid metabolism in preclinical models. However, its role in human metabolism is not well understood. We have characterized a cohort of individuals with b…
View article: Recurrent Diffuse Neurofibroma of the Mandibular Anterior Lingual Alveolar Process Associated With Dental and Skeletal Changes in Neurofibromatosis Type 1
Recurrent Diffuse Neurofibroma of the Mandibular Anterior Lingual Alveolar Process Associated With Dental and Skeletal Changes in Neurofibromatosis Type 1 Open
Background/Aim: Neurofibromatosis type 1 (NF1) is a tumor predisposition syndrome and a bone disease. Dystrophic facial skull often is topographically related to diffuse neurofibromas (DNFs). The report traces the diagnosis and treatment o…
View article: Facial Diffuse Plexiform Neurofibroma‐associated Mandibular Deformities: Surgical Interventions and Monitoring of Treatment Results in a Patient for Over 40 Years
Facial Diffuse Plexiform Neurofibroma‐associated Mandibular Deformities: Surgical Interventions and Monitoring of Treatment Results in a Patient for Over 40 Years Open
Background/Aim: Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary tumor-predisposition syndrome and a genetic bone disease. The case report describes tumor-associated mandibular changes, their therapy and follow-up over se…
View article: Malignant Peripheral Nerve Sheath Tumor (MPNST) Arising from Orbital Plexiform Neurofibroma in a Small Child With Neurofibromatosis Type 1
Malignant Peripheral Nerve Sheath Tumor (MPNST) Arising from Orbital Plexiform Neurofibroma in a Small Child With Neurofibromatosis Type 1 Open
Background/Aim: Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary tumor predisposition syndrome. In approximately 30% of cases, plexiform neurofibromas (PNFs) are identified, which are precursor lesions for malignant perip…
View article: HGG-13. INFANT-TYPE HEMISPHERIC GLIOMA (IHG): AN INDIVIDUAL PATIENT DATA META-ANALYSIS
HGG-13. INFANT-TYPE HEMISPHERIC GLIOMA (IHG): AN INDIVIDUAL PATIENT DATA META-ANALYSIS Open
BACKGROUND Infant-type hemispheric gliomas (IHG) are epigenetically distinct pediatric high-grade gliomas characterized by fusions in receptor tyrosine kinase (RTK) genes. METHODS We performed a methodical literature search, including 30 p…
View article: EPEN-14. MOLECULAR MARKERS AND PREDICTORS OF OUTCOME FOR PAEDIATRIC INTRACRANIAL EPENDYMOMA IN THE PROSPECTIVE, MULTICENTRE E-HIT2000 TRIAL AND SUBSEQUENT HIT-REGISTRIES: A POOLED ANALYSIS OF 244 PATIENTS
EPEN-14. MOLECULAR MARKERS AND PREDICTORS OF OUTCOME FOR PAEDIATRIC INTRACRANIAL EPENDYMOMA IN THE PROSPECTIVE, MULTICENTRE E-HIT2000 TRIAL AND SUBSEQUENT HIT-REGISTRIES: A POOLED ANALYSIS OF 244 PATIENTS Open
BACKGROUND Throughout the past decade, molecular tools have revolutionised ependymoma classification, yet their application has been limited in clinical trial cohorts. METHODS We present the molecular analysis of paediatric ependymoma pati…
View article: Microscope-integrated optical coherence tomography for in vivo human brain tumor detection with artificial intelligence
Microscope-integrated optical coherence tomography for in vivo human brain tumor detection with artificial intelligence Open
OBJECTIVE It has been shown that optical coherence tomography (OCT) can identify brain tumor tissue and potentially be used for intraoperative margin diagnostics. However, there is limited evidence on its use in human in vivo settings, par…
View article: Raman difference spectroscopy and U-Net convolutional neural network for molecular analysis of cutaneous neurofibroma
Raman difference spectroscopy and U-Net convolutional neural network for molecular analysis of cutaneous neurofibroma Open
In Neurofibromatosis type 1 (NF1), peripheral nerve sheaths tumors are common, with cutaneous neurofibromas resulting in significant aesthetic, painful and functional problems requiring surgical removal. To date, determination of adequate …
View article: An Intronic Heterozygous SYNE2 Splice Site Mutation: A Rare Cause for Myalgia and hyperCKemia?
An Intronic Heterozygous SYNE2 Splice Site Mutation: A Rare Cause for Myalgia and hyperCKemia? Open
SYNE2 mutations have been associated with skeletal and cardiac muscle diseases, including Emery-Dreifuss muscular dystrophy (EDMD). Here, we present a 70-year-old male patient with muscle pain and elevated serum creatine kinase levels in w…
View article: Transcriptomic and epigenetic dissection of spinal ependymoma (SP-EPN) identifies clinically relevant subtypes enriched for tumors with and without NF2 mutation
Transcriptomic and epigenetic dissection of spinal ependymoma (SP-EPN) identifies clinically relevant subtypes enriched for tumors with and without NF2 mutation Open
Ependymomas encompass multiple clinically relevant tumor types based on localization and molecular profiles. Tumors of the methylation class “spinal ependymoma” (SP-EPN) represent the most common intramedullary neoplasms in children and ad…
View article: Phase unwrapping for MHz optical coherence elastography and application to brain tumor tissue
Phase unwrapping for MHz optical coherence elastography and application to brain tumor tissue Open
During neuro-oncologic surgery, phase-sensitive optical coherence elastography (OCE) can be valuable for distinguishing between healthy and diseased tissue. However, the phase unwrapping process required to retrieve the original phase sign…
View article: The neurosurgical benefit of contactless in vivo optical coherence tomography regarding residual tumor detection: A clinical study
The neurosurgical benefit of contactless in vivo optical coherence tomography regarding residual tumor detection: A clinical study Open
Purpose In brain tumor surgery, it is crucial to achieve complete tumor resection while conserving adjacent noncancerous brain tissue. Several groups have demonstrated that optical coherence tomography (OCT) has the potential of identifyin…
View article: Atypical neurofibromas reveal distinct epigenetic features with proximity to benign peripheral nerve sheath tumor entities
Atypical neurofibromas reveal distinct epigenetic features with proximity to benign peripheral nerve sheath tumor entities Open
Background Plexiform neurofibromas can transform into atypical neurofibromas (ANF) and then further progress to aggressive malignant peripheral nerve sheath tumors (MPNST). ANF have been described to harbor distinct histological features a…
View article: Pontine autosomal dominant microangiopathy with leukoencephalopathy: Col4A1 gene variants in the original family and sporadic stroke
Pontine autosomal dominant microangiopathy with leukoencephalopathy: Col4A1 gene variants in the original family and sporadic stroke Open
View article: Unveiling the identities of null cell tumours: Epigenomics corroborate subtle histological cues in pituitary neuroendocrine tumour/adenoma classification
Unveiling the identities of null cell tumours: Epigenomics corroborate subtle histological cues in pituitary neuroendocrine tumour/adenoma classification Open
Aims Pituitary neuroendocrine tumour (PitNET)/adenoma classification is based on cell lineage and requires immunopositivity for adenohypophysial hormones and/or transcription factors (TFs) steroidogenic factor 1 (SF1), T‐box transcription …
View article: Epigenetic profiling reveals a subset of pediatric-type glioneuronal tumors characterized by oncogenic gene fusions involving several targetable kinases
Epigenetic profiling reveals a subset of pediatric-type glioneuronal tumors characterized by oncogenic gene fusions involving several targetable kinases Open
View article: Differentiation of different stages of brain tumor infiltration using optical coherence tomography: Comparison of two systems and histology
Differentiation of different stages of brain tumor infiltration using optical coherence tomography: Comparison of two systems and histology Open
The discrimination of tumor-infiltrated tissue from non-tumorous brain tissue during neurosurgical tumor excision is a major challenge in neurosurgery. It is critical to achieve full tumor removal since it directly correlates with the surv…
View article: Ezrin deficiency triggers glial fibrillary acidic protein upregulation and a distinct reactive astrocyte phenotype
Ezrin deficiency triggers glial fibrillary acidic protein upregulation and a distinct reactive astrocyte phenotype Open
Astrocytes are increasingly being recognized as contributors to physiological brain function and behavior. Astrocytes engage in glia‐synaptic interactions through peripheral astrocyte processes, thus modulating synaptic signaling, for exam…
View article: Evidence of beta amyloid independent small vessel disease in familial Alzheimer's disease
Evidence of beta amyloid independent small vessel disease in familial Alzheimer's disease Open
We studied small vessel disease (SVD) pathology in Familial Alzheimer's disease (FAD) subjects carrying the presenilin 1 ( PSEN1 ) p.Glu280Ala mutation in comparison to those with sporadic Alzheimer's disease (SAD) as a positive control fo…
View article: EPEN-27. Epigenetic dissection of spinal ependymomas (SP-EPN) separates tumors with and without<i>NF2</i> mutation
EPEN-27. Epigenetic dissection of spinal ependymomas (SP-EPN) separates tumors with and without<i>NF2</i> mutation Open
Ependymomas encompass multiple, clinically relevant tumor types based on localization, genetic alterations, and epigenetic and transcriptomic profiles. Tumors belonging to the methylation class of spinal ependymoma (SP-EPN) represent the m…
View article: RARE-12. Pineoblastoma of children and young adults in a national population: An analysis of the HIT-MED study cohort
RARE-12. Pineoblastoma of children and young adults in a national population: An analysis of the HIT-MED study cohort Open
BACKGROUND: Pineoblastoma is a malignant tumor of the pineal gland and accounts for <1% of all pediatric brain tumors. PURPOSE/METHODS: Patients <21 years (y) with pineoblastoma confirmed by central neuropathology review between 2001…
View article: HGG-16. Final analysis of the HIT-HGG-2007 trial (ISRCTN19852453): Significant survival benefit for pontine and non-pontine pediatric high-grade gliomas in comparison to previous HIT-GBM-C/-D trials.
HGG-16. Final analysis of the HIT-HGG-2007 trial (ISRCTN19852453): Significant survival benefit for pontine and non-pontine pediatric high-grade gliomas in comparison to previous HIT-GBM-C/-D trials. Open
The aim of the HIT-HGG-2007 trial (ISRCTN19852453) was to demonstrate therapeutic non-inferiority of temozolomide radiochemotherapy for pediatric patients (3-18 years) with high-grade gliomas (pedHGG) in comparison to the cisplatinum-based…
View article: Recurrent Mandibular Giant Cell Lesion in Neurofibromatosis Type 1: Second Hit Mutation on the <i>NF1</i> Gene in the Osseous Lesion
Recurrent Mandibular Giant Cell Lesion in Neurofibromatosis Type 1: Second Hit Mutation on the <i>NF1</i> Gene in the Osseous Lesion Open
The study supports current assessments of CGCG as a benign neoplasm. In NF1 patients, the phenotype seems to imply bi-allelic loss of the NF1 gene. The detection of both mutations in routinely fixed tissue allows studies of archived tissue…
View article: Registration of histological brain images onto optical coherence tomography images based on shape information
Registration of histological brain images onto optical coherence tomography images based on shape information Open
Identifying tumour infiltration zones during tumour resection in order to excise as much tumour tissue as possible without damaging healthy brain tissue is still a major challenge in neurosurgery. The detection of tumour infiltrated region…
View article: Die prognostische Bedeutung von Axl und Gas6 bei Kopf-Hals-Karzinomen
Die prognostische Bedeutung von Axl und Gas6 bei Kopf-Hals-Karzinomen Open
Einleitung Die Rezeptor-Tyrosinkinase Axl wird als Treiber für Migration und Metastasierung, sowie als Resistenzfaktor gegen zielgerichtete, sowie Radio- und Chemotherapien (RCT) bei verschiedenen Entitäten, einschließlich HNSCC, beschrieb…
View article: The prognostic impact of Axl and Gas6 in head and neck cancer
The prognostic impact of Axl and Gas6 in head and neck cancer Open
Introduction The receptor tyrosine kinase Axl is described as a driver for migration and metastasis as well as for resistance against molecular targeting agents and radio- and chemotherapy (RCT) in various tumor entities including head and…