ArticleBlood2016
Haploinsufficiency for NR3C1, the gene encoding the glucocorticoid receptor, in blastic plasmacytoid dendritic cell neoplasms.
Article in Blood, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 69 citations in OpenAlex.
- Review
- Diagnostic approach to blastic plasmacytoid dendritic cell neoplasm: historical perspectives and current understanding.Journal of clinical and experimental hematopathology : JCEH · 2025Review
- Advancing the understanding and management of blastic plasmacytoid dendritic cell neoplasm: Insights from recent case studies.World journal of clinical cases · 2024Article
- Blastic Plasmacytoid Dendritic Cell Neoplasm, from a Dermatological Point of View.International journal of molecular sciences · 2024Review
- Blastic Plasmocytoid Dendritic Cell Neoplasm (BPDCN): Clinical Features and Histopathology with a Therapeutic Overview.Hematology reports · 2023Review
- Plasmacytoid dendritic cell neoplasms.Blood research · 2023Review
- Review
- Conventional Therapeutics in BPDCN Patients-Do They Still Have a Place in the Era of Targeted Therapies?Cancers · 2022Review
- Clinical Insights into the Management of Blastic Plasmacytoid Dendritic Cell Neoplasm.Cancer management and research · 2022Review
- Integrated Clinical Genotype-Phenotype Characteristics of Blastic Plasmacytoid Dendritic Cell Neoplasm.Cancers · 2021Article
- Blastic Plasmacytoid Dendritic Cell Neoplasm: Progress in Cell Origin, Molecular Biology, Diagnostic Criteria and Therapeutic Approaches.Current medical science · 2021Review
- Transcriptomic and genomic heterogeneity in blastic plasmacytoid dendritic cell neoplasms: from ontogeny to oncogenesis.Blood advances · 2021Article
- Identification of novel, clonally stable, somatic mutations targeting transcription factors PAX5 and NKX2-3, the epigenetic regulator LRIF1, and BRAF in a case of atypical B-cell chronic lymphocytic leukemia harboring a t(14;18)(q32;q21).Cold Spring Harbor molecular case studies · 2021Article
- Overcoming Glucocorticoid Resistance in Acute Lymphoblastic Leukemia: Repurposed Drugs Can Improve the Protocol.Frontiers in oncology · 2021Review
- Dendritic Cell Leukemia: a Review.Current oncology reports · 2020Review
- Whole-genome analysis uncovers recurrent IKZF1 inactivation and aberrant cell adhesion in blastic plasmacytoid dendritic cell neoplasm.Genes, chromosomes & cancer · 2020Article
- How should we diagnose and treat blastic plasmacytoid dendritic cell neoplasm patients?Blood advances · 2019Article
- Updates in Novel Therapies for Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN).Current hematologic malignancy reports · 2019Review
- A new palliative treatment for blastic plasmacytoid dendritic cell neoplasm: a case report and review of the literature.The Journal of international medical research · 2019Review
- Article
Corrections and comments
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Authors and funding
38 authors at 12 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and highly aggressive leukemia for which knowledge on disease mechanisms and effective therapies are currently lacking. Only a handful of recurring genetic mutations have been identified and none is specific to BPDCN. In this study, through molecular cloning in an index case that presented a balanced t(3;5)(q21;q31) and molecular cytogenetic analyses in a further 46 cases, we identify monoallelic deletion of NR3C1 (5q31), encoding the glucocorticoid receptor (GCR), in 13 of 47 (28%) BPDCN patients. Targeted deep sequencing in 36 BPDCN cases, including 10 with NR3C1 deletion, did not reveal NR3C1 point mutations or indels. Haploinsufficiency for NR3C1 defined a subset of BPDCN with lowered GCR expression and extremely poor overall survival (P = .0006). Consistent with a role for GCR in tumor suppression, functional analyses coupled with gene expression profiling identified corticoresistance and loss-of-EZH2 function as major downstream consequences of NR3C1 deletion in BPDCN. Subsequently, more detailed analyses of the t(3;5)(q21;q31) revealed fusion of NR3C1 to a long noncoding RNA (lncRNA) gene (lincRNA-3q) that encodes a novel, nuclear, noncoding RNA involved in the regulation of leukemia stem cell programs and G1/S transition, via E2F. Overexpression of lincRNA-3q was a consistent feature of malignant cells and could be abrogated by bromodomain and extraterminal domain (BET) protein inhibition. Taken together, this work points to NR3C1 as a haploinsufficient tumor suppressor in a subset of BPDCN and identifies BET inhibition, acting at least partially via lncRNA blockade, as a novel treatment option in BPDCN.
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