IDH1 immunohistochemistry reactivity and mosaic IDH1 or IDH2 somatic mutations in pediatric sporadic enchondroma and enchondromatosis.

Saiji, Essia; Pause, Fabienne Gumy; Lascombes, Pierre; Cerato Biderbost, Christelle; Marq, Nathalie Lin; Berczy, Margaret; Merlini, Laura; Rougemont, Anne-Laure

Saiji, Essia; Pause, Fabienne Gumy; Lascombes, Pierre; Cerato Biderbost, Christelle; Marq, Nathalie Lin; Berczy, Margaret; Merlini, Laura; Rougemont, Anne-Laure.

Afiliação

Saiji E; Division of Clinical Pathology, Molecular Pathology Unit, Geneva University Hospitals, Rue Gabrielle-Perret-Gentil 4, 1211, Geneva, Switzerland.
Pause FG; Department of Pediatrics, Onco-hematology Unit, Geneva University Hospitals, Rue Gabrielle-Perret-Gentil 4, 1211, Geneva 14, Switzerland.
Lascombes P; Pediatric Orthopedic Division, Geneva University Hospitals, Rue Gabrielle-Perret-Gentil 4, 1211, Geneva 14, Switzerland.
Cerato Biderbost C; Division of Clinical Pathology, Molecular Pathology Unit, Geneva University Hospitals, Rue Gabrielle-Perret-Gentil 4, 1211, Geneva, Switzerland.
Marq NL; Division of Clinical Pathology, Molecular Pathology Unit, Geneva University Hospitals, Rue Gabrielle-Perret-Gentil 4, 1211, Geneva, Switzerland.
Berczy M; Division of Clinical Pathology, Molecular Pathology Unit, Geneva University Hospitals, Rue Gabrielle-Perret-Gentil 4, 1211, Geneva, Switzerland.
Merlini L; Pediatric Radiology Unit, Geneva University Hospitals, Rue Gabrielle-Perret-Gentil 4, 1211, Geneva 14, Switzerland.
Rougemont AL; Division of Clinical Pathology, Molecular Pathology Unit, Geneva University Hospitals, Rue Gabrielle-Perret-Gentil 4, 1211, Geneva, Switzerland. anne-laure.rougemont@hcuge.ch.

Virchows Arch ; 475(5): 625-636, 2019 Nov.

Article em En | MEDLINE | ID: mdl-31240473

Assuntos

Condroma/genética; Encondromatose/genética; Isocitrato Desidrogenase/genética; Proteínas Serina-Treonina Quinases/genética; Quinases Proteína-Quinases Ativadas por AMP; Adolescente; Criança; Pré-Escolar; Condroma/metabolismo; Condroma/patologia; Encondromatose/metabolismo; Encondromatose/patologia; Feminino; Sequenciamento de Nucleotídeos em Larga Escala; Humanos; Imuno-Histoquímica; Isocitrato Desidrogenase/metabolismo; Masculino; Mutação; Análise de Sequência de DNA

Palavras-chave

Children; FFPE; IDH mutation; Immunohistochemistry; NGS; Next-generation sequencing; Ollier

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Condroma / Proteínas Serina-Treonina Quinases / Encondromatose / Isocitrato Desidrogenase Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Virchows Arch Ano de publicação: 2019 Tipo de documento: Article

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