The first pineoblastoma case report of a patient with Sotos syndrome harboring NSD1 germline mutation
Germline mutations of NSD1 are associated with Sotos syndrome, characterized by distinctive facial features, overgrowth, and developmental delay. Approximately 3% of individuals with Sotos syndrome develop tumors... (Source: BMC Pediatrics)
Source: BMC Pediatrics - March 8, 2024 Category: Pediatrics Authors: Xizan Yue, Bo Liu, Tiantian Han, Didi Guo, Ran Ding and Guangyu Wang Tags: Case Report Source Type: research

The effectiveness and safety of proton beam radiation therapy in children and young adults with Central Nervous System (CNS) tumours: a systematic review
ConclusionsThis review highlights areas of uncertainty in this research area. A well-defined, well-funded research agenda is needed to best maximise the potential of PBT.Systematic review registration.PROSPERO-CRD42016036802. (Source: Journal of Neuro-Oncology)
Source: Journal of Neuro-Oncology - January 31, 2024 Category: Cancer & Oncology Source Type: research

BCOR expression in paediatric pineoblastoma
Folia Neuropathol. 2023;61(2):121-128. doi: 10.5114/fn.2023.129377.ABSTRACTBCOR is expressed in a new brain tumour entity, i.e. 'CNS tumour with BCOR internal tandem duplication' (HGNET BCOR) but not in several other high grade paediatric brain tumours investigated. Immunohistochemical detection of BCOR expression may therefore serve as a potential diagnostic marker. Nevertheless, in rare paediatric glioma cases recurrent EP300-BCOR fusions were detected, which resulted in strong BCOR immunopositivity. We have therefore examined other, not analysed so far, types of central nervous system (CNS) tumours, pineoblastoma and ge...
Source: Folia Neuropathologica - August 17, 2023 Category: Pathology Authors: Joanna Trubicka Maria Łastowska Agnieszka Karkuci ńska-Więckowska Magdalena Niemira Maria Ejmont Agnieszka Sowi ńska Maciej Pronicki Ewa Matyja Wies ława Grajkowska Source Type: research

BCOR expression in paediatric pineoblastoma
Folia Neuropathol. 2023;61(2):121-128. doi: 10.5114/fn.2023.129377.ABSTRACTBCOR is expressed in a new brain tumour entity, i.e. 'CNS tumour with BCOR internal tandem duplication' (HGNET BCOR) but not in several other high grade paediatric brain tumours investigated. Immunohistochemical detection of BCOR expression may therefore serve as a potential diagnostic marker. Nevertheless, in rare paediatric glioma cases recurrent EP300-BCOR fusions were detected, which resulted in strong BCOR immunopositivity. We have therefore examined other, not analysed so far, types of central nervous system (CNS) tumours, pineoblastoma and ge...
Source: Folia Neuropathologica - August 17, 2023 Category: Neurology Authors: Joanna Trubicka Maria Łastowska Agnieszka Karkuci ńska-Więckowska Magdalena Niemira Maria Ejmont Agnieszka Sowi ńska Maciej Pronicki Ewa Matyja Wies ława Grajkowska Source Type: research

BCOR expression in paediatric pineoblastoma
Folia Neuropathol. 2023;61(2):121-128. doi: 10.5114/fn.2023.129377.ABSTRACTBCOR is expressed in a new brain tumour entity, i.e. 'CNS tumour with BCOR internal tandem duplication' (HGNET BCOR) but not in several other high grade paediatric brain tumours investigated. Immunohistochemical detection of BCOR expression may therefore serve as a potential diagnostic marker. Nevertheless, in rare paediatric glioma cases recurrent EP300-BCOR fusions were detected, which resulted in strong BCOR immunopositivity. We have therefore examined other, not analysed so far, types of central nervous system (CNS) tumours, pineoblastoma and ge...
Source: Folia Neuropathologica - August 17, 2023 Category: Pathology Authors: Joanna Trubicka Maria Łastowska Agnieszka Karkuci ńska-Więckowska Magdalena Niemira Maria Ejmont Agnieszka Sowi ńska Maciej Pronicki Ewa Matyja Wies ława Grajkowska Source Type: research

BCOR expression in paediatric pineoblastoma
Folia Neuropathol. 2023;61(2):121-128. doi: 10.5114/fn.2023.129377.ABSTRACTBCOR is expressed in a new brain tumour entity, i.e. 'CNS tumour with BCOR internal tandem duplication' (HGNET BCOR) but not in several other high grade paediatric brain tumours investigated. Immunohistochemical detection of BCOR expression may therefore serve as a potential diagnostic marker. Nevertheless, in rare paediatric glioma cases recurrent EP300-BCOR fusions were detected, which resulted in strong BCOR immunopositivity. We have therefore examined other, not analysed so far, types of central nervous system (CNS) tumours, pineoblastoma and ge...
Source: Folia Neuropathologica - August 17, 2023 Category: Neurology Authors: Joanna Trubicka Maria Łastowska Agnieszka Karkuci ńska-Więckowska Magdalena Niemira Maria Ejmont Agnieszka Sowi ńska Maciej Pronicki Ewa Matyja Wies ława Grajkowska Source Type: research

BCOR expression in paediatric pineoblastoma
Folia Neuropathol. 2023;61(2):121-128. doi: 10.5114/fn.2023.129377.ABSTRACTBCOR is expressed in a new brain tumour entity, i.e. 'CNS tumour with BCOR internal tandem duplication' (HGNET BCOR) but not in several other high grade paediatric brain tumours investigated. Immunohistochemical detection of BCOR expression may therefore serve as a potential diagnostic marker. Nevertheless, in rare paediatric glioma cases recurrent EP300-BCOR fusions were detected, which resulted in strong BCOR immunopositivity. We have therefore examined other, not analysed so far, types of central nervous system (CNS) tumours, pineoblastoma and ge...
Source: Folia Neuropathologica - August 17, 2023 Category: Pathology Authors: Joanna Trubicka Maria Łastowska Agnieszka Karkuci ńska-Więckowska Magdalena Niemira Maria Ejmont Agnieszka Sowi ńska Maciej Pronicki Ewa Matyja Wies ława Grajkowska Source Type: research

BCOR expression in paediatric pineoblastoma
Folia Neuropathol. 2023;61(2):121-128. doi: 10.5114/fn.2023.129377.ABSTRACTBCOR is expressed in a new brain tumour entity, i.e. 'CNS tumour with BCOR internal tandem duplication' (HGNET BCOR) but not in several other high grade paediatric brain tumours investigated. Immunohistochemical detection of BCOR expression may therefore serve as a potential diagnostic marker. Nevertheless, in rare paediatric glioma cases recurrent EP300-BCOR fusions were detected, which resulted in strong BCOR immunopositivity. We have therefore examined other, not analysed so far, types of central nervous system (CNS) tumours, pineoblastoma and ge...
Source: Folia Neuropathologica - August 17, 2023 Category: Neurology Authors: Joanna Trubicka Maria Łastowska Agnieszka Karkuci ńska-Więckowska Magdalena Niemira Maria Ejmont Agnieszka Sowi ńska Maciej Pronicki Ewa Matyja Wies ława Grajkowska Source Type: research

BCOR expression in paediatric pineoblastoma
Folia Neuropathol. 2023;61(2):121-128. doi: 10.5114/fn.2023.129377.ABSTRACTBCOR is expressed in a new brain tumour entity, i.e. 'CNS tumour with BCOR internal tandem duplication' (HGNET BCOR) but not in several other high grade paediatric brain tumours investigated. Immunohistochemical detection of BCOR expression may therefore serve as a potential diagnostic marker. Nevertheless, in rare paediatric glioma cases recurrent EP300-BCOR fusions were detected, which resulted in strong BCOR immunopositivity. We have therefore examined other, not analysed so far, types of central nervous system (CNS) tumours, pineoblastoma and ge...
Source: Folia Neuropathologica - August 17, 2023 Category: Pathology Authors: Joanna Trubicka Maria Łastowska Agnieszka Karkuci ńska-Więckowska Magdalena Niemira Maria Ejmont Agnieszka Sowi ńska Maciej Pronicki Ewa Matyja Wies ława Grajkowska Source Type: research

BCOR expression in paediatric pineoblastoma
Folia Neuropathol. 2023;61(2):121-128. doi: 10.5114/fn.2023.129377.ABSTRACTBCOR is expressed in a new brain tumour entity, i.e. 'CNS tumour with BCOR internal tandem duplication' (HGNET BCOR) but not in several other high grade paediatric brain tumours investigated. Immunohistochemical detection of BCOR expression may therefore serve as a potential diagnostic marker. Nevertheless, in rare paediatric glioma cases recurrent EP300-BCOR fusions were detected, which resulted in strong BCOR immunopositivity. We have therefore examined other, not analysed so far, types of central nervous system (CNS) tumours, pineoblastoma and ge...
Source: Folia Neuropathologica - August 17, 2023 Category: Neurology Authors: Joanna Trubicka Maria Łastowska Agnieszka Karkuci ńska-Więckowska Magdalena Niemira Maria Ejmont Agnieszka Sowi ńska Maciej Pronicki Ewa Matyja Wies ława Grajkowska Source Type: research

BCOR expression in paediatric pineoblastoma
Folia Neuropathol. 2023;61(2):121-128. doi: 10.5114/fn.2023.129377.ABSTRACTBCOR is expressed in a new brain tumour entity, i.e. 'CNS tumour with BCOR internal tandem duplication' (HGNET BCOR) but not in several other high grade paediatric brain tumours investigated. Immunohistochemical detection of BCOR expression may therefore serve as a potential diagnostic marker. Nevertheless, in rare paediatric glioma cases recurrent EP300-BCOR fusions were detected, which resulted in strong BCOR immunopositivity. We have therefore examined other, not analysed so far, types of central nervous system (CNS) tumours, pineoblastoma and ge...
Source: Folia Neuropathologica - August 17, 2023 Category: Pathology Authors: Joanna Trubicka Maria Łastowska Agnieszka Karkuci ńska-Więckowska Magdalena Niemira Maria Ejmont Agnieszka Sowi ńska Maciej Pronicki Ewa Matyja Wies ława Grajkowska Source Type: research

BCOR expression in paediatric pineoblastoma
Folia Neuropathol. 2023;61(2):121-128. doi: 10.5114/fn.2023.129377.ABSTRACTBCOR is expressed in a new brain tumour entity, i.e. 'CNS tumour with BCOR internal tandem duplication' (HGNET BCOR) but not in several other high grade paediatric brain tumours investigated. Immunohistochemical detection of BCOR expression may therefore serve as a potential diagnostic marker. Nevertheless, in rare paediatric glioma cases recurrent EP300-BCOR fusions were detected, which resulted in strong BCOR immunopositivity. We have therefore examined other, not analysed so far, types of central nervous system (CNS) tumours, pineoblastoma and ge...
Source: Folia Neuropathologica - August 17, 2023 Category: Neurology Authors: Joanna Trubicka Maria Łastowska Agnieszka Karkuci ńska-Więckowska Magdalena Niemira Maria Ejmont Agnieszka Sowi ńska Maciej Pronicki Ewa Matyja Wies ława Grajkowska Source Type: research