Comprehensive genetic landscape, immune checkpoint profiling, and establishment of patient-derived xenograft (PDX) of metachronous brain tumors from constitutive mismatch repair deficiency with a biallelic variant on MSH6

Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare genetic disorder caused by biallelic pathogenic variants in mismatch repair genes (PMS2, MSH6, MLH1, or MSH2) resulting in the development of a variety of different tumors, including brain neoplasms. This study molecularly characterized a Brazilian child with CMMRD, harboring two metachronous brain tumors (medulloblastoma and high-grade glioma), and established a patient-derived xenograft (PDX) of the CMMRD-associated brain tumor. Keywords: Brazil, Constitutional mismatch repair deficiency syndrome, exome, MSH6, medulloblastoma, high-grade glioma.

Type: Cancer Genomics
Archiver: European Genome-Phenome Archive (EGA)

1 Publication

Publications	Citations
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. Moreno DA, Mançano BM, Baroni M, Philot EA, de Oliveira Garcia FA, Bonatelli M, de Paula FE, Santana IVV, Teixeira GR, Yamanari M, da Silva LS, de Paula AE, Antoniazzi AP, Willig A, Xing X, Xu Z, Lourenço L, Junior CA, Teixeira SA, Reis RM. Animal Model Exp Med 8: 2025 1971-1982	1

Publications

Citations

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.
Moreno DA, Mançano BM, Baroni M, Philot EA, de Oliveira Garcia FA, Bonatelli M, de Paula FE, Santana IVV, Teixeira GR, Yamanari M, da Silva LS, de Paula AE, Antoniazzi AP, Willig A, Xing X, Xu Z, Lourenço L, Junior CA, Teixeira SA, Reis RM. Animal Model Exp Med 8: 2025 1971-1982