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Animal Model Exp Med2025;8(11):1971-1982.November 1, 2025Journal Article

Establishment and molecular profiling of a PDX model of a metachronous brain tumor in a patient with constitutional mismatch repair deficiency with biallelic MSH6 variant.

Daniel Antunes Moreno1, Bruna Minniti Mançano2, Mirella Baroni1, Eric Allison Philot1, Felipe Antonio de Oliveira Garcia1, Murilo Bonatelli3, Flávia Escremim de Paula3, Iara Viana Vidigal Santana4, Gustavo Ramos Teixeira4,5, Mauricio Yamanari6, Luciane Sussuchi da Silva1, André Escremim de Paula3, Augusto Perazzolo Antoniazzi7, Adrian Willig8, Xiaobin Xing8, Zhenyu Xu8, Lucas Lourenço2, Carlos Almeida Junior2, Silvia Aparecida Teixeira1, Rui Manuel Reis1,9,10
1Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil.
2Department of Pediatric Oncology, Barretos Cancer Hospital, Barretos, Brazil.
3Department of Molecular Diagnosis, Barretos Cancer Hospital, Barretos, Brazil.
4Department of Pathology, Barretos Cancer Hospital, Barretos, Brazil.
5Barretos School of Health Sciences Dr Paulo Prata, Barretos, Brazil.
6Department of Radiotherapy, Barretos Cancer Hospital, Barretos, Brazil.
7Department of Oncogenetics, Barretos Cancer Hospital, Barretos, Brazil.
8SOPHIA Genetics, Rolle, Switzerland.
9ICVS/3B's PT Government Associate Laboratory, Braga, Portugal.
10Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal.
PubMed PMC DOI PDF

Abstract

BACKGROUND: Constitutional mismatch repair deficiency (CMMRD) is a rare disorder resulting from biallelic germline pathogenic variants in mismatch repair genes. This study described the molecular profile of two metachronous brain tumors and a patient-derived xenograft (PDX) from a Brazilian child with CMMRD. METHODS: After PDX development, methylation array, whole exome sequencing, and NanoString…

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