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Paediatric astroblastoma-like neuroepithelial tumour of the spinal cord with a MAMLD1-BEND2 rearrangement.
Rossi, Sabrina; Barresi, Sabina; Colafati, Giovanna Stefania; Giovannoni, Isabella; Miele, Evelina; Alesi, Viola; Cacchione, Antonella; Diomedi-Camassei, Francesca; Macari, Gabriele; Antonelli, Manila; Carboni, Alessia; Carai, Andrea; Mastronuzzi, Angela; Giangaspero, Felice; Gessi, Marco; Alaggio, Rita.
Afiliação
  • Rossi S; Pathology Unit, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Barresi S; Pathology Unit, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Colafati GS; Neuroradiology Unit, Imaging Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Giovannoni I; Pathology Unit, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Miele E; Department of Onco-Hematology, Cell Therapy, Gene Therapies and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Alesi V; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Cacchione A; Department of Onco-Hematology, Cell Therapy, Gene Therapies and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Diomedi-Camassei F; Pathology Unit, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Macari G; GenomeUp s.r.l, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Antonelli M; Department of Radiology, Oncology and Anatomic Pathology, University La Sapienza, Rome, Italy.
  • Carboni A; Neuroradiology Unit, Imaging Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Carai A; Neurosurgery Unit, Department of Neuroscience and Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Mastronuzzi A; Department of Onco-Hematology, Cell Therapy, Gene Therapies and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Giangaspero F; Department of Radiology, Oncology and Anatomic Pathology, University La Sapienza, Rome, Italy.
  • Gessi M; IRCCS Neuromed, Isernia, Italy.
  • Alaggio R; Neuropathology Unit, Pathology Division, Fondazione, Policlinico Universitario A. Gemelli IRCCS, Università Cattolica S. Cuore, Rome, Italy.
Neuropathol Appl Neurobiol ; 48(5): e12814, 2022 08.
Article em En | MEDLINE | ID: mdl-35301744
ABSTRACT
Astroblastomas are neuroepithelial tumours defined by the presence of MN1 rearrangement and are typically located in the cerebral hemispheres. Rare cases of astroblastoma-like tumours carrying an EWSR1-BEND2 fusion have been recently described in the brain stem and spinal cord. We report a paediatric case of neuroepithelial astroblastoma-like tumour occurring in the spine and carrying a novel MAMLD1-BEND2 fusion. We believe that our case aligns with the rare astroblastoma-like tumours with EWSR1-BEND2 fusion, in terms of non-hemispheric location, pathology, methylation profile and activation of BEND2 transcription. Whether they may represent a distinct entity or a variant of MN1-altered astroblastoma is not clear.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neoplasias da Medula Espinal / Neoplasias Encefálicas / Neoplasias Neuroepiteliomatosas Limite: Child / Humans Idioma: En Revista: Neuropathol Appl Neurobiol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neoplasias da Medula Espinal / Neoplasias Encefálicas / Neoplasias Neuroepiteliomatosas Limite: Child / Humans Idioma: En Revista: Neuropathol Appl Neurobiol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália