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Single nCounter assay for prediction of MYCN amplification and molecular classification of medulloblastomas: a multicentric study.
Moreno, Daniel Antunes; da Silva, Luciane Sussuchi; Zanon, Maicon Fernando; Bonatelli, Murilo; de Paula, Flávia Escremim; de Medeiros Matsushita, Marcus; Teixeira, Gustavo Ramos; Santana, Iara Viana Vidigal; Saggioro, Fabiano; Neder, Luciano; Stavale, João N; Malheiros, Suzana Maria Fleury; Lima, Matheus; Hajj, Glaucia Noeli Maroso; Garcia-Rivello, Hernan; Christiansen, Silvia; Nunes, Susana; da Costa, Maria João Gil; Soares, Maria José; Pinheiro, Jorge; Junior, Carlos Almeida; Mançano, Bruna Minniti; Reis, Rui Manuel.
Afiliación
  • Moreno DA; Molecular Oncology Research Center Dr. Paulo Prata, Barretos Cancer Hospital, Barretos, Brazil.
  • da Silva LS; Molecular Oncology Research Center Dr. Paulo Prata, Barretos Cancer Hospital, Barretos, Brazil.
  • Zanon MF; Molecular Diagnosis Laboratory Dr. Paulo Prata, Barretos Cancer Hospital, Barretos, Brazil.
  • Bonatelli M; Molecular Diagnosis Laboratory Dr. Paulo Prata, Barretos Cancer Hospital, Barretos, Brazil.
  • de Paula FE; Molecular Diagnosis Laboratory Dr. Paulo Prata, Barretos Cancer Hospital, Barretos, Brazil.
  • de Medeiros Matsushita M; Pathology Department Dr. Paulo Prata, Barretos Cancer Hospital, Barretos, Brazil.
  • Teixeira GR; Pathology Department Dr. Paulo Prata, Barretos Cancer Hospital, Barretos, Brazil.
  • Santana IVV; Barretos School of Health Sciences Dr. Paulo Prata, Barretos Cancer Hospital, Barretos, Brazil.
  • Saggioro F; Pathology Department Dr. Paulo Prata, Barretos Cancer Hospital, Barretos, Brazil.
  • Neder L; Department of Pathology and Forensic Medicine, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.
  • Stavale JN; Department of Pathology and Forensic Medicine, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.
  • Malheiros SMF; Federal University of São Paulo (UNIFESP), São Paulo, Brazil.
  • Lima M; Federal University of São Paulo (UNIFESP), São Paulo, Brazil.
  • Hajj GNM; AC Camargo Hospital, São Paulo, Brazil.
  • Garcia-Rivello H; AC Camargo Hospital, São Paulo, Brazil.
  • Christiansen S; Pathology Department, Italian Hospital of Buenos Aires, Buenos Aires, Argentina.
  • Nunes S; Pathology Department, Italian Hospital of Buenos Aires, Buenos Aires, Argentina.
  • da Costa MJG; Pediatric Oncology Department, Hospital São João, Porto, Portugal.
  • Soares MJ; Pediatric Oncology Department, Hospital São João, Porto, Portugal.
  • Pinheiro J; Clinical Hematology Department, Hospital São João, Porto, Portugal.
  • Junior CA; Department of Pathology, Hospital São João, Porto, Portugal.
  • Mançano BM; Pediatric Oncology Department, Pediatric Neurosurgery Department, Barretos Cancer Hospital, Barretos, Brazil.
  • Reis RM; Molecular Oncology Research Center Dr. Paulo Prata, Barretos Cancer Hospital, Barretos, Brazil.
J Neurooncol ; 157(1): 27-35, 2022 Mar.
Article en En | MEDLINE | ID: mdl-35166989
PURPOSE: Medulloblastoma is the most frequent pediatric malignant brain tumor, and is divided into four main subgroups: WNT, SHH, group 3, and group 4. MYCN amplification is an important medulloblastoma prognostic biomarker. We aimed to molecular classify and predict MYCN amplification in a single assay. METHODS: It was included 209 medulloblastomas from 205 patients (Brazil, Argentina, and Portugal), divided into training (n = 50) and validation (n = 159) sets. A nCounter assay was carried out using a custom panel for molecular classification, with additional genes, including MYCN. nSolver 4.0 software and the R environment were used for profiling and MYCN mRNA analysis. MYCN amplification by FISH was performed in 64 cases. RESULTS: The 205 medulloblastomas were classified in SHH (44.9%), WNT (15.6%), group 3 (18.1%) and group 4 (21.4%). In the training set, MYCN amplification was detected in three SHH medulloblastomas by FISH, which showed significantly higher MYCN mRNA counts than non-FISH amplified cases, and a cutoff for MYCN amplification was established ([Formula: see text] + 4σ = 11,124.3). Applying this threshold value in the validation set, we identified MYCN mRNA counts above the cutoff in three cases, which were FISH validated. CONCLUSION: We successfully stratified medulloblastoma molecular subgroups and predicted MYCN amplification using a single nCounter assay without the requirement of additional biological tissue, costs, or bench time.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Encefálicas / Neoplasias Cerebelosas / Meduloblastoma Tipo de estudio: Clinical_trials / Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Humans País/Región como asunto: America do sul / Brasil Idioma: En Revista: J Neurooncol Año: 2022 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Encefálicas / Neoplasias Cerebelosas / Meduloblastoma Tipo de estudio: Clinical_trials / Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Humans País/Región como asunto: America do sul / Brasil Idioma: En Revista: J Neurooncol Año: 2022 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Estados Unidos