Imaging and multi-omics datasets converge to define different neural progenitor origins for ATRT-SHH subgroups

María-Jesús Lobón-Iglesias, Mamy Andrianteranagna, Zhi-Yan Han, Céline Chauvin, Julien Masliah-Planchon, Valeria Manriquez, Arnault Tauziede-Espariat, Sandrina Turczynski, Rachida Bouarich-Bourimi, Magali Frah, Christelle Dufour, Thomas Blauwblomme, Liesbeth Cardoen, Gaelle Pierron, Laetitia Maillot, Delphine Guillemot, Stéphanie Reynaud, Christine Bourneix, Célio Pouponnot, Didier Surdez, Mylene Bohec, Sylvain Baulande, Olivier Delattre, Eliane Piaggio, Olivier Ayrault, Joshua J. Waterfall, Nicolas Servant, Kevin Beccaria, Volodia Dangouloff-Ros and Franck Bourdeaut ()
Additional contact information
María-Jesús Lobón-Iglesias: PSL Research University, SIREDO Oncology center, Institut Curie Research Center
Mamy Andrianteranagna: PSL Research University, SIREDO Oncology center, Institut Curie Research Center
Zhi-Yan Han: PSL Research University, SIREDO Oncology center, Institut Curie Research Center
Céline Chauvin: PSL Research University, SIREDO Oncology center, Institut Curie Research Center
Julien Masliah-Planchon: Institut Curie Hospital
Valeria Manriquez: PSL Research University, Institut Curie Research Center
Arnault Tauziede-Espariat: GHU Paris-Psychiatry and Neurosciences, Sainte-Anne Hospital
Sandrina Turczynski: PSL Research University, SIREDO Oncology center, Institut Curie Research Center
Rachida Bouarich-Bourimi: PSL Research University, SIREDO Oncology center, Institut Curie Research Center
Magali Frah: PSL Research University, SIREDO Oncology center, Institut Curie Research Center
Christelle Dufour: Gustave Roussy, Paris Saclay University
Thomas Blauwblomme: Université de Paris
Liesbeth Cardoen: Institut Curie Hospital
Gaelle Pierron: Institut Curie Hospital
Laetitia Maillot: Institut Curie Hospital
Delphine Guillemot: Institut Curie Hospital
Stéphanie Reynaud: Institut Curie Hospital
Christine Bourneix: Institut Curie Hospital
Célio Pouponnot: PSL Research University, Université Paris-Saclay
Didier Surdez: PSL Research University, SIREDO Oncology Center, Institut Curie Research Center
Mylene Bohec: PSL University
Sylvain Baulande: PSL University
Olivier Delattre: Institut Curie Hospital
Eliane Piaggio: PSL Research University, Institut Curie Research Center
Olivier Ayrault: PSL Research University, Université Paris-Saclay
Joshua J. Waterfall: PSL Research University, Institut Curie Research Center
Nicolas Servant: PSL Research University, Institut Curie Research Center
Kevin Beccaria: Université de Paris
Volodia Dangouloff-Ros: AP-HP, Necker Sick Kids Hospital and Paris Cite Universiy INSERM 1299 and UMR 1163, Institut Imagine
Franck Bourdeaut: PSL Research University, SIREDO Oncology center, Institut Curie Research Center

Nature Communications, 2023, vol. 14, issue 1, 1-21

Abstract: Abstract Atypical teratoid rhabdoid tumors (ATRT) are divided into MYC, TYR and SHH subgroups, suggesting diverse lineages of origin. Here, we investigate the imaging of human ATRT at diagnosis and the precise anatomic origin of brain tumors in the Rosa26-CreERT2::Smarcb1flox/flox model. This cross-species analysis points to an extra-cerebral origin for MYC tumors. Additionally, we clearly distinguish SHH ATRT emerging from the cerebellar anterior lobe (CAL) from those emerging from the basal ganglia (BG) and intra-ventricular (IV) regions. Molecular characteristics point to the midbrain-hindbrain boundary as the origin of CAL SHH ATRT, and to the ganglionic eminence as the origin of BG/IV SHH ATRT. Single-cell RNA sequencing on SHH ATRT supports these hypotheses. Trajectory analyses suggest that SMARCB1 loss induces a de-differentiation process mediated by repressors of the neuronal program such as REST, ID and the NOTCH pathway.

Date: 2023
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DOI: 10.1038/s41467-023-42371-7

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