Data documento
02/05/2024

Título
High frequency of WNT-activated medulloblastomas with CTNNB1 wild type suggests a higher proportion of hereditary cases in a Latin-Iberian population

Autor(es)
Moreno DA - Bonatelli M - Antoniazzi AP - de Paula FE - Leal LF - Garcia FAO - de Paula AE - Teixeira GR - Santana IVV - Saggioro F - Neder L - Valera ET - Scrideli CA - Stavale J - Malheiros SMF - Lima M - Hajj GNM - Garcia-Rivello H - Christiansen S - Nunes S - Gil-da-Costa MJ - Pinheiro J - Martins FD - Junior CA - Mançano BM - Reis RM.

Resumo
Medulloblastomas are the most common primary malignant brain tumors in children. They are divided into molecular subgroups: WNT-activated, SHH-Activated, TP53 mutant or wild type, and non-WNT/non-SHH (Groups 3 and 4). WNT-activated medulloblastomas are usually caused by mutations in the CTNNB1 gene (85%–90%), and most remaining cases of CTNNB1 wild type are thought to be caused by germline mutations in APC. So far, the frequencies of CTNNB1 have been reported mainly in North American and European populations. The aim of this study was to report the frequency of CTNNB1 mutations in WNT-activated medulloblastomas in a Latin-Iberian population and correlate with their clinicopathological characteristics.

Citação
Moreno DA, Bonatelli M, Antoniazzi AP, de Paula FE, Leal LF, Garcia FAO, de Paula AE, Teixeira GR, Santana IVV, Saggioro F, Neder L, Valera ET, Scrideli CA, Stavale J, Malheiros SMF, Lima M, Hajj GNM, Garcia-Rivello H, Christiansen S, Nunes S, Gil-da-Costa MJ, Pinheiro J, Martins FD, Junior CA, Mançano BM, Reis RM. High frequency of WNT-activated medulloblastomas with CTNNB1 wild type suggests a higher proportion of hereditary cases in a Latin-Iberian population. Front Oncol. 2023 Sep 4;13:1237170. doi: 10.3389/fonc.2023.1237170. PMID: 37746264; PMCID: PMC10513896.