Activation of Hedgehog signaling by the oncogenic RELA fusion reveals a primary cilia-dependent vulnerability in supratentorial ependymoma.


Journal

Neuro-oncology
ISSN: 1523-5866
Titre abrégé: Neuro Oncol
Pays: England
ID NLM: 100887420

Informations de publication

Date de publication:
05 01 2023
Historique:
pubmed: 1 6 2022
medline: 11 1 2023
entrez: 31 5 2022
Statut: ppublish

Résumé

Supratentorial RELA fusion (ST-RELA) ependymomas (EPNs) are resistant tumors without an approved chemotherapeutic treatment. Unfortunately, the molecular mechanisms that lead to chemoresistance traits of ST-RELA remain elusive. The aim of this study was to assess RELA fusion-dependent signaling modules, specifically the role of the Hedgehog (Hh) pathway as a novel targetable vulnerability in ST-RELA. Gene expression was analyzed in EPN from patient cohorts, by microarray, RNA-seq, qRT-PCR, and scRNA-seq. Inhibitors against Smoothened (SMO) (Sonidegib) and Aurora kinase A (AURKA) (Alisertib) were evaluated. Protein expression, primary cilia formation, and drug effects were assessed by immunoblot, immunofluorescence, and immunohistochemistry. Hh components were selectively overexpressed in EPNs induced by the RELA fusion. Single-cell analysis showed that the Hh signature was primarily confined to undifferentiated, stem-like cell subpopulations. Sonidegib exhibited potent growth-inhibitory effects on ST-RELA cells, suggesting a key role in active Hh signaling; importantly, the effect of Sonidegib was reversed by primary cilia loss. We, thus, tested the effect of AURKA inhibition by Alisertib, to induce cilia stabilization/reassembly. Strikingly, Alisertib rescued ciliogenesis and synergized with Sonidegib in killing ST-RELA cells. Using a xenograft model, we show that cilia loss is a mechanism for acquiring resistance to the inhibitory effect of Sonidegib. However, Alisertib fails to rescue cilia and highlights the need for other strategies to promote cilia reassembly, for treating ST-RELA tumors. Our study reveals a crucial role for the Hh pathway in ST-RELA tumor growth, and suggests that rescue of primary cilia represents a vulnerability of the ST-RELA EPNs.

Sections du résumé

BACKGROUND
Supratentorial RELA fusion (ST-RELA) ependymomas (EPNs) are resistant tumors without an approved chemotherapeutic treatment. Unfortunately, the molecular mechanisms that lead to chemoresistance traits of ST-RELA remain elusive. The aim of this study was to assess RELA fusion-dependent signaling modules, specifically the role of the Hedgehog (Hh) pathway as a novel targetable vulnerability in ST-RELA.
METHODS
Gene expression was analyzed in EPN from patient cohorts, by microarray, RNA-seq, qRT-PCR, and scRNA-seq. Inhibitors against Smoothened (SMO) (Sonidegib) and Aurora kinase A (AURKA) (Alisertib) were evaluated. Protein expression, primary cilia formation, and drug effects were assessed by immunoblot, immunofluorescence, and immunohistochemistry.
RESULTS
Hh components were selectively overexpressed in EPNs induced by the RELA fusion. Single-cell analysis showed that the Hh signature was primarily confined to undifferentiated, stem-like cell subpopulations. Sonidegib exhibited potent growth-inhibitory effects on ST-RELA cells, suggesting a key role in active Hh signaling; importantly, the effect of Sonidegib was reversed by primary cilia loss. We, thus, tested the effect of AURKA inhibition by Alisertib, to induce cilia stabilization/reassembly. Strikingly, Alisertib rescued ciliogenesis and synergized with Sonidegib in killing ST-RELA cells. Using a xenograft model, we show that cilia loss is a mechanism for acquiring resistance to the inhibitory effect of Sonidegib. However, Alisertib fails to rescue cilia and highlights the need for other strategies to promote cilia reassembly, for treating ST-RELA tumors.
CONCLUSION
Our study reveals a crucial role for the Hh pathway in ST-RELA tumor growth, and suggests that rescue of primary cilia represents a vulnerability of the ST-RELA EPNs.

Identifiants

pubmed: 35640920
pii: 6596001
doi: 10.1093/neuonc/noac147
pmc: PMC9825332
doi:

Substances chimiques

sonidegib 0RLU3VTK5M
Hedgehog Proteins 0
Aurora Kinase A EC 2.7.11.1
RELA protein, human 0
Transcription Factor RelA 0

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

185-198

Subventions

Organisme : NIGMS NIH HHS
ID : R01 GM122920
Pays : United States

Informations de copyright

© The Author(s) 2022. Published by Oxford University Press on behalf of the Society for Neuro-Oncology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

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Auteurs

Taciani de Almeida Magalhães (T)

Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.
Department of Cell Biology, Harvard Medical School, Boston, Massachusetts, USA.

Gustavo Alencastro Veiga Cruzeiro (G)

Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.
Department of Pediatric Oncology, Dana-Farber Boston Children's Cancer and Blood Disorders Center, Boston, Massachusetts, USA.
Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.

Graziella Ribeiro de Sousa (G)

Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.

Bernhard Englinger (B)

Department of Pediatric Oncology, Dana-Farber Boston Children's Cancer and Blood Disorders Center, Boston, Massachusetts, USA.
Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.
Department of Urology, Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.

Luis Fernando Peinado Nagano (L)

Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.

Mathew Ancliffe (M)

Brain Tumour Research Program, Telethon Kids Institute and the University of Western Australia, Nedlands, Western Australia, Australia.

Keteryne Rodrigues da Silva (K)

Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.
Brain Tumour Research Program, Telethon Kids Institute and the University of Western Australia, Nedlands, Western Australia, Australia.

Li Jiang (L)

Department of Pediatric Oncology, Dana-Farber Boston Children's Cancer and Blood Disorders Center, Boston, Massachusetts, USA.
Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.

Johannes Gojo (J)

Department of Pediatric Oncology, Dana-Farber Boston Children's Cancer and Blood Disorders Center, Boston, Massachusetts, USA.
Department of Pediatrics and Adolescent Medicine, Comprehensive Center for Pediatrics, Medical University of Vienna, Vienna, Austria.

Yulu Cherry Liu (Y)

Department of Cell Biology, Harvard Medical School, Boston, Massachusetts, USA.

Brooke Carline (B)

Brain Tumour Research Program, Telethon Kids Institute and the University of Western Australia, Nedlands, Western Australia, Australia.

Mani Kuchibhotla (M)

Brain Tumour Research Program, Telethon Kids Institute and the University of Western Australia, Nedlands, Western Australia, Australia.

Fabiano Pinto Saggioro (F)

Department of Pathology, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.

Suely Kazue Nagahashi Marie (S)

Cellular and Molecular Biology Laboratory, Department of Neurology, Faculdade de Medicina (FMUSP), University of São Paulo, São Paulo, Brazil.

Sueli Mieko Oba-Shinjo (S)

Cellular and Molecular Biology Laboratory, Department of Neurology, Faculdade de Medicina (FMUSP), University of São Paulo, São Paulo, Brazil.

José Andres Yunes (J)

Molecular Biology Laboratory, Boldrini Children's Center, Campinas, São Paulo, Brazil.

Rosane Gomes de Paula Queiroz (R)

Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.

Carlos Alberto Scrideli (C)

Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.

Raelene Endersby (R)

Brain Tumour Research Program, Telethon Kids Institute and the University of Western Australia, Nedlands, Western Australia, Australia.

Mariella G Filbin (MG)

Department of Pediatric Oncology, Dana-Farber Boston Children's Cancer and Blood Disorders Center, Boston, Massachusetts, USA.
Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.

Kleiton Silva Borges (K)

Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.
Division of Endocrinology, Boston Children's Hospital, Boston, Massachusetts, USA.

Adrian Salic (A)

Department of Cell Biology, Harvard Medical School, Boston, Massachusetts, USA.

Luiz Gonzaga Tone (L)

Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.
Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.

Elvis Terci Valera (ET)

Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.

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Classifications MeSH