ATRX In-Frame Fusion Neuroblastoma Is Sensitive to EZH2 Inhibition via Modulation of Neuronal Gene Signatures


Por: Qadeer Z.A., Valle-Garcia D., Hasson D., Sun Z., Cook A., Nguyen C., Soriano A., Ma A., Griffiths L.M., Zeineldin M., Filipescu D., Jubierre L., Chowdhury A., Deevy O., Chen X., Finkelstein D.B., Bahrami A., Stewart E., Federico S., Gallego S., Dekio F., Fowkes M., Meni D., Maris J.M., Weiss W.A., Roberts S.S., Cheung N.-K.V., Jin J., Segura M.F., Dyer M.A., Bernstein E.

Publicada: 1 ene 2019
Resumen:
Qadeer et al. show that ATRX in-frame fusions (IFF), found in a subset of neuroblastomas, are redistributed from wild-type ATRX-binding sites to other genomic regions, including the REST promoter. REST expression silences neuronal differentiation genes, which can be derepressed with EZH2 inhibitors to suppress ATRX IFF cell growth. © 2019 Elsevier Inc.ATRX alterations occur at high frequency in neuroblastoma of adolescents and young adults. Particularly intriguing are the large N-terminal deletions of ATRX (Alpha Thalassemia/Mental Retardation, X-linked) that generate in-frame fusion (IFF) proteins devoid of key chromatin interaction domains, while retaining the SWI/SNF-like helicase region. We demonstrate that ATRX IFF proteins are redistributed from H3K9me3-enriched chromatin to promoters of active genes and identify REST as an ATRX IFF target whose activation promotes silencing of neuronal differentiation genes. We further show that ATRX IFF cells display sensitivity to EZH2 inhibitors, due to derepression of neurogenesis genes, including a subset of REST targets. Taken together, we demonstrate that ATRX structural alterations are not loss-of-function and put forward EZH2 inhibitors as a potential therapy for ATRX IFF neuroblastoma. © 2019 Elsevier Inc.

Filiaciones:
Qadeer Z.A.:
 Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States

 Graduate School of Biomedical Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States

 Departments of Neurology, Neurosurgery, and Pediatrics, University of California, San Francisco, San Francisco, CA 94158, United States

Valle-Garcia D.:
 Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States

Hasson D.:
 Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States

Sun Z.:
 Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States

 Graduate School of Biomedical Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States

Cook A.:
 Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States

Nguyen C.:
 Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States

 Graduate School of Biomedical Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States

Soriano A.:
 Laboratory of Translational Research in Child and Adolescent Cancer, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, 08035, Spain

Ma A.:
 Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States

 Department of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States

Griffiths L.M.:
 Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN 38105, United States

Zeineldin M.:
 Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN 38105, United States

Filipescu D.:
 Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States

Jubierre L.:
 Laboratory of Translational Research in Child and Adolescent Cancer, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, 08035, Spain

Chowdhury A.:
 Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States

Deevy O.:
 Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States

Chen X.:
 Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, United States

Finkelstein D.B.:
 Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, United States

Bahrami A.:
 Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN 38105, United States

Stewart E.:
 Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN 38105, United States

 Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN 38105, United States

Federico S.:
 Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN 38105, United States

Gallego S.:
 Pediatric Oncology and Hematology Department, University Hospital Vall d'Hebron, Barcelona, 08035, Spain

Dekio F.:
 Department of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States

Fowkes M.:
 Department of Pathology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States

Meni D.:
 Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY 10065, United States

Maris J.M.:
 Center for Childhood Cancer Research at the Children's Hospital of Philadelphia, Perlman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, United States

Weiss W.A.:
 Departments of Neurology, Neurosurgery, and Pediatrics, University of California, San Francisco, San Francisco, CA 94158, United States

Roberts S.S.:
 Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY 10065, United States

Cheung N.-K.V.:
 Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY 10065, United States

Jin J.:
 Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States

 Graduate School of Biomedical Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States

 Department of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States

Segura M.F.:
 Laboratory of Translational Research in Child and Adolescent Cancer, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, 08035, Spain

Dyer M.A.:
 Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN 38105, United States

Bernstein E.:
 Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States

 Graduate School of Biomedical Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States
ISSN: 15356108
Editorial
CELL PRESS, 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA, Estados Unidos America
Tipo de documento: Article
Volumen: 36 Número: 5
Páginas: 512-5279
ID de PubMed: 31631027
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