Reproducibility of the NanoString 22-gene molecular subgroup assay for improved prognostic prediction of medulloblastoma

Neuropathology : Official Journal of the Japanese Society of Neuropathology
Letícia F LealRui Manuel Reis

Abstract

Medulloblastoma is the most frequent malignant brain tumor in children. Four medulloblastoma molecular subgroups, MBSHH , MBWNT , MBGRP3 and MBGRP4 , have been identified by integrated high-throughput platforms. Recently, a 22-gene panel NanoString-based assay was developed for medulloblastoma molecular subgrouping, but the robustness of this assay has not been widely evaluated. Mutations in the gene for human telomerase reverse transcriptase (hTERT) have been found in medulloblastomas and are associated with distinct molecular subtypes. This study aimed to implement the 22-gene panel in a Brazilian context, and to associate the molecular profile with patients' clinical-pathological features. Formalin-fixed, paraffin-embedded (FFPE) medulloblastoma samples (n = 104) from three Brazilian centers were evaluated. Expression profiling of the 22-gene panel was performed by NanoString and a Canadian series (n = 240) was applied for training phase. hTERT mutations were analyzed by PCR followed by direct Sanger sequencing and the molecular profile was associated with patients' clinicopathological features. Overall, 65% of the patients were male, average age at diagnosis was 18 years and 7% of the patients presented metastasis at diagno...Continue Reading

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Jan 10, 2020·Expert Review of Molecular Diagnostics·Bryan K LiEric Bouffet
Jan 23, 2020·Genes, Chromosomes & Cancer·Wangzhao SongLéon C van Kempen
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Aug 27, 2021·Current Oncology·Terence Teixeira DuarteRui Manuel Reis
Sep 7, 2021·Frontiers in Oncology·Diocésio Alves Pinto de AndradeRicardo Dos Reis

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