Atypical teratoid/rhabdoid tumoroids reveal subgroup-specific drug vulnerabilities

Oncogene. 2023 May;42(20):1661-1671. doi: 10.1038/s41388-023-02681-y. Epub 2023 Apr 5.

Abstract

Atypical teratoid/rhabdoid tumors (ATRTs) represent a rare, but aggressive pediatric brain tumor entity. They are genetically defined by alterations in the SWI/SNF chromatin remodeling complex members SMARCB1 or SMARCA4. ATRTs can be further classified in different molecular subgroups based on their epigenetic profiles. Although recent studies suggest that the different subgroups have distinct clinical features, subgroup-specific treatment regimens have not been developed thus far. This is hampered by the lack of pre-clinical in vitro models representative of the different molecular subgroups. Here, we describe the establishment of ATRT tumoroid models from the ATRT-MYC and ATRT-SHH subgroups. We demonstrate that ATRT tumoroids retain subgroup-specific epigenetic and gene expression profiles. High throughput drug screens on our ATRT tumoroids revealed distinct drug sensitivities between and within ATRT-MYC and ATRT-SHH subgroups. Whereas ATRT-MYC universally displayed high sensitivity to multi-targeted tyrosine kinase inhibitors, ATRT-SHH showed a more heterogeneous response with a subset showing high sensitivity to NOTCH inhibitors, which corresponded to high expression of NOTCH receptors. Our ATRT tumoroids represent the first pediatric brain tumor organoid model, providing a representative pre-clinical model which enables the development of subgroup-specific therapies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain Neoplasms* / drug therapy
  • Brain Neoplasms* / genetics
  • Child
  • DNA Helicases
  • Epigenomics
  • Humans
  • Nuclear Proteins
  • Receptors, Notch
  • Rhabdoid Tumor* / drug therapy
  • Rhabdoid Tumor* / genetics
  • Rhabdoid Tumor* / metabolism
  • SMARCB1 Protein / genetics
  • Teratoma* / drug therapy
  • Teratoma* / genetics
  • Transcription Factors / genetics

Substances

  • SMARCB1 Protein
  • Receptors, Notch
  • SMARCA4 protein, human
  • DNA Helicases
  • Nuclear Proteins
  • Transcription Factors