Exceptionally rare IDH1-mutant adult medulloblastoma with concurrent GNAS mutation revealed by in vivo magnetic resonance spectroscopy and deep sequencing.

Liserre, Roberto; Branzoli, Francesca; Pagani, Francesca; Gryzik, Magdalena; Cominelli, Manuela; Miele, Evelina; Marjanska, Malgorzata; Doglietto, Francesco; Poliani, Pietro Luigi

Exceptionally rare IDH1-mutant adult medulloblastoma with concurrent GNAS mutation revealed by in vivo magnetic resonance spectroscopy and deep sequencing.

Liserre, Roberto; Branzoli, Francesca; Pagani, Francesca; Gryzik, Magdalena; Cominelli, Manuela; Miele, Evelina; Marjanska, Malgorzata; Doglietto, Francesco; Poliani, Pietro Luigi.

Afiliação

Liserre R; Department of Radiology, Neuroradiology Unit, ASST Spedali Civili University Hospital, Brescia, Italy.
Branzoli F; Paris Brain Institute - Institut du Cerveau (ICM), Centre de NeuroImagerie de Recherche (CENIR), Paris, France.
Pagani F; Sorbonne Université, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, F-75013, Paris, France.
Gryzik M; Pathology Unit, Department of Molecular and Translational Medicine, University of Brescia, P.le Spedali Civili 1, 25125, Brescia, BS, Italy.
Cominelli M; Pathology Unit, Department of Molecular and Translational Medicine, University of Brescia, P.le Spedali Civili 1, 25125, Brescia, BS, Italy.
Miele E; Pathology Unit, Department of Molecular and Translational Medicine, University of Brescia, P.le Spedali Civili 1, 25125, Brescia, BS, Italy.
Marjanska M; Department of Pediatric Onco-Hematology and Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Doglietto F; Center for Magnetic Resonance Research, Department of Radiology, University of Minnesota, Minneapolis, MN, USA.
Poliani PL; Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Acta Neuropathol Commun ; 11(1): 47, 2023 03 20.

Article em En | MEDLINE | ID: mdl-36941703

Assuntos

Neoplasias Encefálicas; Neoplasias Cerebelares; Glioma; Meduloblastoma; Humanos; Meduloblastoma/diagnóstico por imagem; Meduloblastoma/genética; Isocitrato Desidrogenase/genética; Espectroscopia de Ressonância Magnética/métodos; Glioma/genética; Neoplasias Encefálicas/genética; Mutação/genética; Neoplasias Cerebelares/diagnóstico por imagem; Neoplasias Cerebelares/genética; Sequenciamento de Nucleotídeos em Larga Escala; Glutaratos/metabolismo; Cromograninas/genética; Subunidades alfa Gs de Proteínas de Ligação ao GTP/genética

Palavras-chave

GNAS mutation; Isocitrate dehydrogenase 1 and 2 mutation; Magnetic resonance spectroscopy (MRS); Medulloblastoma; d-2-Hydroxyglutarate (2HG)

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias Encefálicas / Neoplasias Cerebelares / Glioma / Meduloblastoma Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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