Lista de obras - Dominik Sturm - Dominio Público Uruguay

A simplified approach using Taqman low-density array for medulloblastoma subgrouping

scientific article published on 04 March 2019

A subset of pediatric-type thalamic gliomas share a distinct DNA methylation profile, H3K27me3 loss and frequent alteration of EGFR

scientific article published on 01 November 2020

Accurate calling of KIAA1549-BRAF fusions from DNA of human brain tumours using methylation array-based copy number and gene panel sequencing data

artículo científico publicado en 2020

Adult and pediatric medulloblastomas are genetically distinct and require different algorithms for molecular risk stratification

artículo científico publicado en 2010

Amplification of the PLAG-family genes-PLAGL1 and PLAGL2-is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplification

artículo científico publicado en 2023

Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes

artículo científico publicado en 2016

Author Correction: The landscape of genomic alterations across childhood cancers

artículo científico publicado en 2018

BCAT1 promotes cell proliferation through amino acid catabolism in gliomas carrying wild-type IDH1.

artículo científico publicado en 2013

Clinical, Radiologic, Pathologic, and Molecular Characteristics of Long-Term Survivors of Diffuse Intrinsic Pontine Glioma (DIPG): A Collaborative Report From the International and European Society for Pediatric Oncology DIPG Registries.

artículo científico publicado en 2018

Comparative integrated molecular analysis of intraocular medulloepitheliomas and central nervous system embryonal tumors with multilayered rosettes confirms that they are distinct nosologic entities

artículo científico publicado en 2015

Comprehensive Analysis of Chromatin States in Atypical Teratoid/Rhabdoid Tumor Identifies Diverging Roles for SWI/SNF and Polycomb in Gene Regulation

scientific article published on 27 December 2018

Corrigendum: Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

artículo científico publicado en 2012

DNA methylation-based classification and grading system for meningioma: a multicentre, retrospective analysis

artículo científico publicado en 2017

DNA methylation-based classification of central nervous system tumours.

artículo científico publicado en 2018

DNA methylation-based profiling of uterine neoplasms: a novel tool to improve gynecologic cancer diagnostics

scientific article published on 25 November 2019

Development of the SIOPE DIPG network, registry and imaging repository: a collaborative effort to optimize research into a rare and lethal disease

artículo científico publicado en 2017

Diffuse glioneuronal tumour with oligodendroglioma-like features and nuclear clusters (DGONC) - a molecularly defined glioneuronal CNS tumour class displaying recurrent monosomy 14

artículo científico publicado en 2019

Diffuse high-grade gliomas with H3 K27M mutations carry a dismal prognosis independent of tumor location

artículo científico publicado en 2017

Dissecting the genomic complexity underlying medulloblastoma

artículo científico publicado en 2012

Distribution of TERT promoter mutations in pediatric and adult tumors of the nervous system

artículo científico publicado en 2013

Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

artículo científico publicado en 2012

EMBR-15. DIAGNOSTIC RE-EVALUATION AND POOLED CLINICAL DATA ANALYSIS OF PATIENTS WITH PREVIOUS DIAGNOSIS OF CNS-PNET

Ectopic intracranial retinoblastoma in a 3.5-month-old infant without eye involvement and without evidence of heritability

artículo científico publicado en 2019

Embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma, and medulloepithelioma share molecular similarity and comprise a single clinicopathological entity

artículo científico publicado en 2013

Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma

artículo científico publicado en 2014

Epithelioid glioblastomas stratify into established diagnostic subsets upon integrated molecular analysis.

artículo científico publicado en 2017

Evidence of H3 K27M mutations in posterior fossa ependymomas

artículo científico publicado en 2016

FSTL5 is a marker of poor prognosis in non-WNT/non-SHH medulloblastoma

artículo científico publicado en 2011

Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition

artículo científico publicado en 2014

Germline Elongator mutations in Sonic Hedgehog medulloblastoma

scientific article published on 01 April 2020

Gliomas in Children.

artículo científico publicado en 2018

H3-/IDH-wild type pediatric glioblastoma is comprised of molecularly and prognostically distinct subtypes with associated oncogenic drivers

artículo científico publicado en 2017

HG-75CLINICAL, RADIOLOGICAL, AND HISTO-GENETIC CHARACTERISTICS OF LONG-TERM SURVIVORS OF DIFFUSE INTRINSIC PONTINE GLIOMA: A COLLABORATIVE REPORT FROM THE INTERNATIONAL AND SIOP-E DIPG REGISTRIES.

artículo científico publicado en 2016

Histologically distinct neuroepithelial tumors with histone 3 G34 mutation are molecularly similar and comprise a single nosologic entity

artículo científico publicado en 2015

Histone 3.3 hotspot mutations in conventional osteosarcomas: a comprehensive clinical and molecular characterization of six H3F3A mutated cases

artículo científico publicado en 2017

Histone H3.3G34-Mutant Interneuron Progenitors Co-opt PDGFRA for Gliomagenesis

artículo científico publicado en 2020

Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma

artículo científico publicado en 2012

Imaging Characteristics of Wingless Pathway Subgroup Medulloblastomas: Results from the German HIT/SIOP-Trial Cohort

artículo científico publicado en 2019

Infant high grade gliomas comprise multiple subgroups characterized by novel targetable gene fusions and favorable outcomes

scientific article published on 01 April 2020

Integrated DNA methylation and copy-number profiling identify three clinically and biologically relevant groups of anaplastic glioma

artículo científico publicado en 2014

Integrated analysis of pediatric glioblastoma reveals a subset of biologically favorable tumors with associated molecular prognostic markers

artículo científico publicado en 2015

Integrated molecular characterization of IDH-mutant glioblastomas

artículo científico publicado en 2018

K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas

artículo científico publicado en 2012

MLL5 Orchestrates a Cancer Self-Renewal State by Repressing the Histone Variant H3.3 and Globally Reorganizing Chromatin

artículo científico publicado en 2015

MPTH-15MOLECULAR RECLASSIFICATION OF CNS-PRIMITIVE NEUROECTODERMAL TUMORS INTO WELL-KNOWN AND NOVEL TUMOR ENTITIES.

artículo científico publicado en 2015

Melanotic tumors of the nervous system are characterized by distinct mutational, chromosomal and epigenomic profiles

artículo científico publicado en 2014

Meningiomas induced by low-dose radiation carry structural variants of NF2 and a distinct mutational signature

artículo científico publicado en 2017

Molecular Diagnostics in Pediatric Brain Tumors: Impact on Diagnosis and Clinical Decision-Making - A Selected Case Series

scientific article published on 11 July 2018

Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas

artículo científico publicado en 2013

New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs

artículo científico publicado en 2016

Next-generation sequencing in routine brain tumor diagnostics enables an integrated diagnosis and identifies actionable targets

artículo científico publicado en 2015

No Significant Cytotoxic Effect of the EZH2 Inhibitor Tazemetostat (EPZ-6438) on Pediatric Glioma Cells with Wildtype Histone 3 or Mutated Histone 3.3.

artículo científico publicado en 2016

Novel oncogene amplifications in tumors from a family with Li-Fraumeni syndrome

artículo científico publicado en 2009

Occurrence of high-grade glioma in Noonan syndrome: Report of two cases

artículo científico publicado en 2019

Oncolytic effects of parvovirus H-1 in medulloblastoma are associated with repression of master regulators of early neurogenesis

artículo científico publicado en 2013

PCLN-06. NOVEL TUMOR-DERIVED MODELS OF CNS HGNET-BCOR PROVIDE INSIGHTS INTO UNDERLYING MOLECULAR MECHANISMS AND INNOVATIVE THERAPEUTIC OPTIONS

PNR-21FOUR NEW BRAIN TUMOR ENTITIES EMERGE FROM MOLECULAR CLASSIFICATION OF CNS PNETs

artículo científico publicado en 2016

PNR-33MOLECULAR RE-EVALUATION OF INSTITUTIONALLY DIAGNOSED CNS-PNETS: CLINICAL CONSEQUENCES OF CONFINED DIAGNOSTIC GROUPS.

artículo científico publicado en 2016

Paediatric and adult glioblastoma: multiform (epi)genomic culprits emerge

artículo científico publicado en 2014

Pediatric Gliomas: Current Concepts on Diagnosis, Biology, and Clinical Management.

artículo científico publicado en 2017

Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations.

artículo científico publicado en 2018

Primary mismatch repair deficient IDH-mutant astrocytoma (PMMRDIA) is a distinct type with a poor prognosis

scientific article published on 20 November 2020

Radiation-induced gliomas represent H3-/IDH-wild type pediatric gliomas with recurrent PDGFRA amplification and loss of CDKN2A/B

artículo científico publicado en 2021

Recurrent fusions in PLAGL1 define a distinct subset of pediatric-type supratentorial neuroepithelial tumors

artículo científico publicado en 2021

Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma

artículo científico publicado en 2013

Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma

artículo científico publicado en 2014

Reduced H3K27me3 and DNA hypomethylation are major drivers of gene expression in K27M mutant pediatric high-grade gliomas

artículo científico publicado en 2013

Reply to J.C. Lindsey et al

Revealing the role of SGK1 in the dynamics of medulloblastoma using a mathematical model

artículo científico publicado en 2014

Routine RNA sequencing of formalin-fixed paraffin-embedded specimens in neuropathology diagnostics identifies diagnostically and therapeutically relevant gene fusions

scientific article published on 05 July 2019

Sarcoma classification by DNA methylation profiling

artículo científico publicado en 2021

Somatostatin receptor subtype 2 (sst₂) is a potential prognostic marker and a therapeutic target in medulloblastoma

artículo científico publicado en 2013

Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.

artículo científico publicado en 2018

Subgroup-specific prognostic implications of TP53 mutation in medulloblastoma

artículo científico publicado en 2013

Survival benefit for patients with diffuse intrinsic pontine glioma (DIPG) undergoing re-irradiation at first progression: A matched-cohort analysis on behalf of the SIOP-E-HGG/DIPG working group.

artículo científico publicado en 2017

TP53 mutation is frequently associated with CTNNB1 mutation or MYCN amplification and is compatible with long-term survival in medulloblastoma.

artículo científico publicado en 2010

The landscape of genomic alterations across childhood cancers

artículo científico publicado en 2018

The β-catenin/CBP-antagonist ICG-001 inhibits pediatric glioma tumorigenicity in a Wnt-independent manner

artículo científico publicado en 2017

Transitioning from genotypes to epigenotypes: why the time has come for medulloblastoma epigenomics

artículo científico

Two molecularly distinct atypical teratoid/rhabdoid tumors (or tumor components) occurring in an infant with rhabdoid tumor predisposition syndrome 1

artículo científico publicado en 2019

Lista de obras de Dominik Sturm

A simplified approach using Taqman low-density array for medulloblastoma subgrouping

A subset of pediatric-type thalamic gliomas share a distinct DNA methylation profile, H3K27me3 loss and frequent alteration of EGFR

Accurate calling of KIAA1549-BRAF fusions from DNA of human brain tumours using methylation array-based copy number and gene panel sequencing data

Adult and pediatric medulloblastomas are genetically distinct and require different algorithms for molecular risk stratification

Amplification of the PLAG-family genes-PLAGL1 and PLAGL2-is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplification

Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes

Author Correction: The landscape of genomic alterations across childhood cancers

BCAT1 promotes cell proliferation through amino acid catabolism in gliomas carrying wild-type IDH1.

Clinical, Radiologic, Pathologic, and Molecular Characteristics of Long-Term Survivors of Diffuse Intrinsic Pontine Glioma (DIPG): A Collaborative Report From the International and European Society for Pediatric Oncology DIPG Registries.

Comparative integrated molecular analysis of intraocular medulloepitheliomas and central nervous system embryonal tumors with multilayered rosettes confirms that they are distinct nosologic entities

Comprehensive Analysis of Chromatin States in Atypical Teratoid/Rhabdoid Tumor Identifies Diverging Roles for SWI/SNF and Polycomb in Gene Regulation

Corrigendum: Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

DNA methylation-based classification and grading system for meningioma: a multicentre, retrospective analysis

DNA methylation-based classification of central nervous system tumours.

DNA methylation-based profiling of uterine neoplasms: a novel tool to improve gynecologic cancer diagnostics

Development of the SIOPE DIPG network, registry and imaging repository: a collaborative effort to optimize research into a rare and lethal disease

Diffuse glioneuronal tumour with oligodendroglioma-like features and nuclear clusters (DGONC) - a molecularly defined glioneuronal CNS tumour class displaying recurrent monosomy 14

Diffuse high-grade gliomas with H3 K27M mutations carry a dismal prognosis independent of tumor location

Dissecting the genomic complexity underlying medulloblastoma

Distribution of TERT promoter mutations in pediatric and adult tumors of the nervous system

Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

EMBR-15. DIAGNOSTIC RE-EVALUATION AND POOLED CLINICAL DATA ANALYSIS OF PATIENTS WITH PREVIOUS DIAGNOSIS OF CNS-PNET

Ectopic intracranial retinoblastoma in a 3.5-month-old infant without eye involvement and without evidence of heritability

Embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma, and medulloepithelioma share molecular similarity and comprise a single clinicopathological entity

Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma

Epithelioid glioblastomas stratify into established diagnostic subsets upon integrated molecular analysis.

Evidence of H3 K27M mutations in posterior fossa ependymomas

FSTL5 is a marker of poor prognosis in non-WNT/non-SHH medulloblastoma

Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition

Germline Elongator mutations in Sonic Hedgehog medulloblastoma

Gliomas in Children.

H3-/IDH-wild type pediatric glioblastoma is comprised of molecularly and prognostically distinct subtypes with associated oncogenic drivers

HG-75CLINICAL, RADIOLOGICAL, AND HISTO-GENETIC CHARACTERISTICS OF LONG-TERM SURVIVORS OF DIFFUSE INTRINSIC PONTINE GLIOMA: A COLLABORATIVE REPORT FROM THE INTERNATIONAL AND SIOP-E DIPG REGISTRIES.

Histologically distinct neuroepithelial tumors with histone 3 G34 mutation are molecularly similar and comprise a single nosologic entity

Histone 3.3 hotspot mutations in conventional osteosarcomas: a comprehensive clinical and molecular characterization of six H3F3A mutated cases

Histone H3.3G34-Mutant Interneuron Progenitors Co-opt PDGFRA for Gliomagenesis

Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma

Imaging Characteristics of Wingless Pathway Subgroup Medulloblastomas: Results from the German HIT/SIOP-Trial Cohort

Infant high grade gliomas comprise multiple subgroups characterized by novel targetable gene fusions and favorable outcomes

Integrated DNA methylation and copy-number profiling identify three clinically and biologically relevant groups of anaplastic glioma

Integrated analysis of pediatric glioblastoma reveals a subset of biologically favorable tumors with associated molecular prognostic markers

Integrated molecular characterization of IDH-mutant glioblastomas

K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas

MLL5 Orchestrates a Cancer Self-Renewal State by Repressing the Histone Variant H3.3 and Globally Reorganizing Chromatin

MPTH-15MOLECULAR RECLASSIFICATION OF CNS-PRIMITIVE NEUROECTODERMAL TUMORS INTO WELL-KNOWN AND NOVEL TUMOR ENTITIES.

Melanotic tumors of the nervous system are characterized by distinct mutational, chromosomal and epigenomic profiles

Meningiomas induced by low-dose radiation carry structural variants of NF2 and a distinct mutational signature

Molecular Diagnostics in Pediatric Brain Tumors: Impact on Diagnosis and Clinical Decision-Making - A Selected Case Series

Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas

New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs

Next-generation sequencing in routine brain tumor diagnostics enables an integrated diagnosis and identifies actionable targets

No Significant Cytotoxic Effect of the EZH2 Inhibitor Tazemetostat (EPZ-6438) on Pediatric Glioma Cells with Wildtype Histone 3 or Mutated Histone 3.3.

Novel oncogene amplifications in tumors from a family with Li-Fraumeni syndrome

Occurrence of high-grade glioma in Noonan syndrome: Report of two cases

Oncolytic effects of parvovirus H-1 in medulloblastoma are associated with repression of master regulators of early neurogenesis

PCLN-06. NOVEL TUMOR-DERIVED MODELS OF CNS HGNET-BCOR PROVIDE INSIGHTS INTO UNDERLYING MOLECULAR MECHANISMS AND INNOVATIVE THERAPEUTIC OPTIONS

PNR-21FOUR NEW BRAIN TUMOR ENTITIES EMERGE FROM MOLECULAR CLASSIFICATION OF CNS PNETs

PNR-33MOLECULAR RE-EVALUATION OF INSTITUTIONALLY DIAGNOSED CNS-PNETS: CLINICAL CONSEQUENCES OF CONFINED DIAGNOSTIC GROUPS.

Paediatric and adult glioblastoma: multiform (epi)genomic culprits emerge

Pediatric Gliomas: Current Concepts on Diagnosis, Biology, and Clinical Management.

Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations.

Primary mismatch repair deficient IDH-mutant astrocytoma (PMMRDIA) is a distinct type with a poor prognosis

Radiation-induced gliomas represent H3-/IDH-wild type pediatric gliomas with recurrent PDGFRA amplification and loss of CDKN2A/B

Recurrent fusions in PLAGL1 define a distinct subset of pediatric-type supratentorial neuroepithelial tumors

Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma

Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma

Reduced H3K27me3 and DNA hypomethylation are major drivers of gene expression in K27M mutant pediatric high-grade gliomas

Reply to J.C. Lindsey et al

Revealing the role of SGK1 in the dynamics of medulloblastoma using a mathematical model

Routine RNA sequencing of formalin-fixed paraffin-embedded specimens in neuropathology diagnostics identifies diagnostically and therapeutically relevant gene fusions

Sarcoma classification by DNA methylation profiling

Somatostatin receptor subtype 2 (sst₂) is a potential prognostic marker and a therapeutic target in medulloblastoma

Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.

Subgroup-specific prognostic implications of TP53 mutation in medulloblastoma

Survival benefit for patients with diffuse intrinsic pontine glioma (DIPG) undergoing re-irradiation at first progression: A matched-cohort analysis on behalf of the SIOP-E-HGG/DIPG working group.

TP53 mutation is frequently associated with CTNNB1 mutation or MYCN amplification and is compatible with long-term survival in medulloblastoma.

The landscape of genomic alterations across childhood cancers

The β-catenin/CBP-antagonist ICG-001 inhibits pediatric glioma tumorigenicity in a Wnt-independent manner

Transitioning from genotypes to epigenotypes: why the time has come for medulloblastoma epigenomics