Pascal D. Johann
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View article: Malignant Rhabdoid Tumors of the Liver Are Associated With Inferior Outcomes Compared to Other Extracranial Rhabdoid Tumors
Malignant Rhabdoid Tumors of the Liver Are Associated With Inferior Outcomes Compared to Other Extracranial Rhabdoid Tumors Open
Background Extracranial malignant rhabdoid tumors (eMRT) are rare, highly aggressive pediatric neoplasms. While the liver is a relatively common anatomic site of presentation, the clinical course of patients with hepatic eMRT (eMRT‐L) is n…
View article: A cycling, progenitor-like cell population at the base of atypical teratoid rhabdoid tumor subtype differentiation trajectories
A cycling, progenitor-like cell population at the base of atypical teratoid rhabdoid tumor subtype differentiation trajectories Open
Background Atypical teratoid rhabdoid tumors (ATRTs) are highly aggressive pediatric central nervous system tumors defined by the inactivation of the SMARCB1 gene. Despite the identification of three distinct molecular subtypes, each defin…
View article: Malignant Rhabdoid Tumors of Cranial Nerves—A Clinically Distinct Group With Characteristic Neuroradiological, Histopathological, and Molecular Features
Malignant Rhabdoid Tumors of Cranial Nerves—A Clinically Distinct Group With Characteristic Neuroradiological, Histopathological, and Molecular Features Open
Background Malignant rhabdoid tumors occasionally develop along cranial nerves, but clinical, histopathological, and molecular features have not been examined in larger series. Procedure We retrospectively interrogated data from the Europe…
View article: DICER1 Mutational Spectrum in Intracranial CNS-Neoplasias—A Review and a Report from the CNS-InterREST GPOH Study Center
DICER1 Mutational Spectrum in Intracranial CNS-Neoplasias—A Review and a Report from the CNS-InterREST GPOH Study Center Open
DICER1 tumor predisposition syndrome is a genetic condition that increases the risk of developing certain cancer types. While thyroid tumors are the main tumors caused by this condition in adult oncology, children and adolescents with DICE…
View article: Double heterozygous pathogenic variants in BRCA2 and CHEK2 in a girl with adrenocortical carcinoma
Double heterozygous pathogenic variants in BRCA2 and CHEK2 in a girl with adrenocortical carcinoma Open
Pediatric adrenocortical tumors (pACTs) are rare endocrine neoplasms with variable prognosis, commonly associated with germline pathogenic variants (PVs) in the tumor suppressor gene TP53. Here, we report the case of a 3.1-year-old female …
View article: PATH-22. SINGLE-CELL RNA (SCRNA) SEQUENCING OF PAIRED PRIMARY AND RECURRENT ATYPICAL TERATOID/RHABDOID TUMORS (AT/RT) REVEALED MOLECULAR DIFFERENCES AND THERAPY-RESISTANT PRIMARY TUMOR CELLS
PATH-22. SINGLE-CELL RNA (SCRNA) SEQUENCING OF PAIRED PRIMARY AND RECURRENT ATYPICAL TERATOID/RHABDOID TUMORS (AT/RT) REVEALED MOLECULAR DIFFERENCES AND THERAPY-RESISTANT PRIMARY TUMOR CELLS Open
Atypical teratoid/rhabdoid tumors (AT/RT) are the most common malignant brain tumors during infancy. They split into four molecular types. The major three (AT/RT-SHH, AT/RT-TYR, and AT/RT-MYC) all carry mutations in SMARCB1, the fourth sma…
View article: Supplementary Figure S1 from Clinical and Molecular Risk Factors in Extracranial Malignant Rhabdoid Tumors: Toward an Integrated Model of High-Risk Tumors
Supplementary Figure S1 from Clinical and Molecular Risk Factors in Extracranial Malignant Rhabdoid Tumors: Toward an Integrated Model of High-Risk Tumors Open
Supplementary Figure 1: (A) Venn diagram displaying which patients clinical data were previously published in Nemes et al. 2022. (B) Cumulative distribution functions (CDF) of the consensus matrix for each k. (C-E) Histograms for k=2, k=3,…
View article: Supplementary Figure S2 from Clinical and Molecular Risk Factors in Extracranial Malignant Rhabdoid Tumors: Toward an Integrated Model of High-Risk Tumors
Supplementary Figure S2 from Clinical and Molecular Risk Factors in Extracranial Malignant Rhabdoid Tumors: Toward an Integrated Model of High-Risk Tumors Open
t-stochastic neighbor embedding (tSNE) plot displaying the DNA methylation of the three atypical teratoid rhabdoid tumor (ATRT) subgroups and the three extracranial malignant rhabdoid tumors (eMRT) subgroups. Triangles indicate which sampl…
View article: Supplementary Figure S5 from Clinical and Molecular Risk Factors in Extracranial Malignant Rhabdoid Tumors: Toward an Integrated Model of High-Risk Tumors
Supplementary Figure S5 from Clinical and Molecular Risk Factors in Extracranial Malignant Rhabdoid Tumors: Toward an Integrated Model of High-Risk Tumors Open
Random forest predictor for eMRT subgroups based on DNA methylation-an example
View article: Supplementary Table S5 from Clinical and Molecular Risk Factors in Extracranial Malignant Rhabdoid Tumors: Toward an Integrated Model of High-Risk Tumors
Supplementary Table S5 from Clinical and Molecular Risk Factors in Extracranial Malignant Rhabdoid Tumors: Toward an Integrated Model of High-Risk Tumors Open
CpG Sites used for model generation
View article: Supplementary Figure S3 from Clinical and Molecular Risk Factors in Extracranial Malignant Rhabdoid Tumors: Toward an Integrated Model of High-Risk Tumors
Supplementary Figure S3 from Clinical and Molecular Risk Factors in Extracranial Malignant Rhabdoid Tumors: Toward an Integrated Model of High-Risk Tumors Open
Copy number alterations for extracranial malignant rhabdoid tumors
View article: Supplementary Table S3 from Clinical and Molecular Risk Factors in Extracranial Malignant Rhabdoid Tumors: Toward an Integrated Model of High-Risk Tumors
Supplementary Table S3 from Clinical and Molecular Risk Factors in Extracranial Malignant Rhabdoid Tumors: Toward an Integrated Model of High-Risk Tumors Open
Cox-Regression model
View article: Supplementary Table S4 from Clinical and Molecular Risk Factors in Extracranial Malignant Rhabdoid Tumors: Toward an Integrated Model of High-Risk Tumors
Supplementary Table S4 from Clinical and Molecular Risk Factors in Extracranial Malignant Rhabdoid Tumors: Toward an Integrated Model of High-Risk Tumors Open
Relapse therapy overview
View article: Supplementary Table S2 from Clinical and Molecular Risk Factors in Extracranial Malignant Rhabdoid Tumors: Toward an Integrated Model of High-Risk Tumors
Supplementary Table S2 from Clinical and Molecular Risk Factors in Extracranial Malignant Rhabdoid Tumors: Toward an Integrated Model of High-Risk Tumors Open
Results of differential gene expression analysis
View article: Supplementary Table S1 from Clinical and Molecular Risk Factors in Extracranial Malignant Rhabdoid Tumors: Toward an Integrated Model of High-Risk Tumors
Supplementary Table S1 from Clinical and Molecular Risk Factors in Extracranial Malignant Rhabdoid Tumors: Toward an Integrated Model of High-Risk Tumors Open
Cohort overview
View article: Data from Clinical and Molecular Risk Factors in Extracranial Malignant Rhabdoid Tumors: Toward an Integrated Model of High-Risk Tumors
Data from Clinical and Molecular Risk Factors in Extracranial Malignant Rhabdoid Tumors: Toward an Integrated Model of High-Risk Tumors Open
Purpose:Extracranial malignant rhabdoid tumors (eMRT) are a challenging entity. Despite the use of multimodal treatment approaches, therapy failure occurs in 55% to 67% of these. Molecular markers for identification of patients at increase…
View article: Supplementary Figure S4 from Clinical and Molecular Risk Factors in Extracranial Malignant Rhabdoid Tumors: Toward an Integrated Model of High-Risk Tumors
Supplementary Figure S4 from Clinical and Molecular Risk Factors in Extracranial Malignant Rhabdoid Tumors: Toward an Integrated Model of High-Risk Tumors Open
Supplementary Figure 4: Mean methylation of the primary and relapsed or refractory tumors for five patients.
View article: PATH-09. CNS EMBRYONAL TUMOUR WITH<i>ZNF532</i>:<i>NUTM1</i> FUSION: A RARE NEW CNS TUMOUR TYPE
PATH-09. CNS EMBRYONAL TUMOUR WITH<i>ZNF532</i>:<i>NUTM1</i> FUSION: A RARE NEW CNS TUMOUR TYPE Open
BACKGROUND Rare embryonal and sarcomatous CNS tumours represent a diagnostic and therapeutic challenge. In the latest WHO 2021 several new tumour types, defined by molecular alterations, have been introduced. Some of these tumours have mol…
View article: ATRT-05. AGE ABOVE 12 MONTHS, ABSENCE OF SYNCHRONOUS, MULTIFOCAL DISEASE AND PATHOGENIC GERMLINE VARIANTS AT C-TERMINI ARE POSITIVE PROGNOSTIC FACTORS IN CHILDREN WITH RTPS1 (RHABDOID-TUMOR-PREDISPOSITION-SYNDROME)
ATRT-05. AGE ABOVE 12 MONTHS, ABSENCE OF SYNCHRONOUS, MULTIFOCAL DISEASE AND PATHOGENIC GERMLINE VARIANTS AT C-TERMINI ARE POSITIVE PROGNOSTIC FACTORS IN CHILDREN WITH RTPS1 (RHABDOID-TUMOR-PREDISPOSITION-SYNDROME) Open
BACKGROUND Rhabdoid-Tumor-Predisposition-Syndrome is due to germline mutations in SMARCB1 (rarely SMARCA4). We pursued a comprehensive clinical and (epi-)genetic characterization of RTPS families. METHODS 90 affected children from 16 count…
View article: ATRT-09. MULTI-OMICS SEQUENCING OF ATYPICAL TERATOID RHABDOID TUMORS UNVEILS A SHARED GROUND-STATE POPULATION PROMOTING SUBGROUP-SPECIFIC DIFFERENTIATION TRAJECTORIES
ATRT-09. MULTI-OMICS SEQUENCING OF ATYPICAL TERATOID RHABDOID TUMORS UNVEILS A SHARED GROUND-STATE POPULATION PROMOTING SUBGROUP-SPECIFIC DIFFERENTIATION TRAJECTORIES Open
BACKGROUND Atypical teratoid rhabdoid tumors (ATRTs) remain a significant clinical challenge in pediatric neurooncology. Despite the simplicity of the genomic profile, mostly characterized by the functional loss of SMARCB1 and in rare case…
View article: ETMR-23. CNS SARCOMAS WITH<i>CIC</i>- OR<i>ATXN1</i>-ALTERATIONS — A META-ANALYSIS OF CLINICAL AND MOLECULAR FEATURES IN A LARGE SERIES OF PATIENTS
ETMR-23. CNS SARCOMAS WITH<i>CIC</i>- OR<i>ATXN1</i>-ALTERATIONS — A META-ANALYSIS OF CLINICAL AND MOLECULAR FEATURES IN A LARGE SERIES OF PATIENTS Open
BACKGROUND In 2021, the 5th WHO classification of central nervous system (CNS) tumors acknowledged CNS sarcomas with CIC alterations as a distinct tumor type, which may also expand to non-CIC alterations including ATXN1. To tackle the lack…
View article: Human-Level Differentiation of Medulloblastoma from Pilocytic Astrocytoma: A Real-World Multicenter Pilot Study
Human-Level Differentiation of Medulloblastoma from Pilocytic Astrocytoma: A Real-World Multicenter Pilot Study Open
Medulloblastoma and pilocytic astrocytoma are the two most common pediatric brain tumors with overlapping imaging features. In this proof-of-concept study, we investigated using a deep learning classifier trained on a multicenter data set …
View article: Embryonal tumor with multilayered rosettes located in the brainstem: Promising results after multimodal treatment including interstitial brachytherapy
Embryonal tumor with multilayered rosettes located in the brainstem: Promising results after multimodal treatment including interstitial brachytherapy Open
Journal Article Corrected proof Embryonal tumor with multilayered rosettes located in the brainstem: Promising results after multimodal treatment including interstitial brachytherapy Get access Stephanie Theresa Jünger, Stephanie Theresa J…
View article: Supplementary Figure from The Pediatric Precision Oncology INFORM Registry: Clinical Outcome and Benefit for Patients with Very High-Evidence Targets
Supplementary Figure from The Pediatric Precision Oncology INFORM Registry: Clinical Outcome and Benefit for Patients with Very High-Evidence Targets Open
Supplementary Figure from The Pediatric Precision Oncology INFORM Registry: Clinical Outcome and Benefit for Patients with Very High-Evidence Targets