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https://hdl.handle.net/1822/67294
Título: | Lack of KBTBD4 mutations in molecularly classified Brazilian medulloblastomas |
Autor(es): | Leal, Letícia Ferro Cavagna, Rodrigo de Oliveira Campanella, Nathalia Cristina Mançano, Bruna Almeida, Gisele Caravina Matsushita, Marcus Almeida Junior, Carlos Roberto Saggioro, Fabiano Stavale, João Norberto Malheiros, Suzana M. F. Lima, Matheus Hajj, Glaucia N. M. Neder, Luciano Reis, R. M. |
Palavras-chave: | Adolescent Adult Brazil Carrier Proteins Cerebellar Neoplasms Child Child, Preschool Female Humans Male Medulloblastoma Middle Aged Mutation Survival Rate Young Adult Molecular subgroups KBTBD4 MBGRP3 MBGRP4 Medulloblastoma |
Data: | 2019 |
Editora: | Oxford University Press |
Revista: | Journal of Neuropathology and Experimental Neurology |
Citação: | Leal, L. F., Cavagna, R. D. O., Campanella, N. C., et. al. (2019). Lack of KBTBD4 Mutations in Molecularly Classified Brazilian Medulloblastomas. Journal of Neuropathology & Experimental Neurology, 78(9), 788-790 |
Resumo(s): | Medulloblastoma is the most frequent malignant brain tumor in children, representing 20% of all childhood brain tumors. Currently, medulloblastomas are molecularly classified in 4 subgroups that are associated with distinctive clinicopathological features. KBTBD4 mutations were recently described in a subset of MBGRP3 and MBGRP4 medulloblastomas subgroups. However, no other studies reported KBTBD4 mutations in medulloblastomas. Thus, our aim was to investigate KBTBD4 mutations in a Brazilian series of medulloblastoma. We evaluated 128 medulloblastoma patients molecularly classified from 4 Brazilian reference centers. DNA from formalin-fixed, paraffin-embedded samples was screened for KBTBD4 hotspot mutations by Sanger sequencing. Most of the patients were male, average age was 16.5 years old and average overall survival was 55.9 months. The predominant histological subtype was the classic subtype, followed by nodular/desmoplastic, and the predominant medulloblastoma molecular subtype was the MBSHH subgroup (46%), followed by MBGRP3 and MBGRP4 (19%/each), and MBWNT (16%). Among the 128 samples, 111 were successfully sequenced. No KBTBD4 mutations were identified in 111 samples. Our findings suggest that KBTBD4 mutations are uncommon in Brazilian MBGRP3 and MBGRP4 medulloblastomas subgroups. Further studies in a larger series of MBGRP3 and MBGRP4 medulloblastomas are warranted to better assess role of KBTBD4 mutations. |
Tipo: | Artigo |
URI: | https://hdl.handle.net/1822/67294 |
DOI: | 10.1093/jnen/nlz066 |
ISSN: | 0022-3069 |
e-ISSN: | 1554-6578 |
Arbitragem científica: | yes |
Acesso: | Acesso restrito autor |
Aparece nas coleções: | ICVS - Artigos em revistas internacionais / Papers in international journals |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
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leal2019.pdf Acesso restrito! | 135,52 kB | Adobe PDF | Ver/Abrir |