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Somatic mutations and single-cell transcriptomes reveal the root of malignant rhabdoid tumours.

Published version
Peer-reviewed

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Article

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Authors

Khabirova, Eleonora  ORCID logo  https://orcid.org/0000-0002-5891-6789
Calandrini, Camilla 

Abstract

Malignant rhabdoid tumour (MRT) is an often lethal childhood cancer that, like many paediatric tumours, is thought to arise from aberrant fetal development. The embryonic root and differentiation pathways underpinning MRT are not firmly established. Here, we study the origin of MRT by combining phylogenetic analyses and single-cell mRNA studies in patient-derived organoids. Comparison of somatic mutations shared between cancer and surrounding normal tissues places MRT in a lineage with neural crest-derived Schwann cells. Single-cell mRNA readouts of MRT differentiation, which we examine by reverting the genetic driver mutation underpinning MRT, SMARCB1 loss, suggest that cells are blocked en route to differentiating into mesenchyme. Quantitative transcriptional predictions indicate that combined HDAC and mTOR inhibition mimic MRT differentiation, which we confirm experimentally. Our study defines the developmental block of MRT and reveals potential differentiation therapies.

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Keywords

Cell Differentiation, DNA Methylation, Drug Screening Assays, Antitumor, Gene Expression Profiling, Gene Expression Regulation, Neoplastic, Histone Deacetylase Inhibitors, Humans, Mutation, Neural Crest, Phylogeny, Rhabdoid Tumor, SMARCB1 Protein, Single-Cell Analysis, TOR Serine-Threonine Kinases, Tissue Culture Techniques

Journal Title

Nat Commun

Conference Name

Journal ISSN

2041-1723
2041-1723

Volume Title

12

Publisher

Springer Science and Business Media LLC