ArticleLeukemia2014
Exome sequencing reveals novel and recurrent mutations with clinical impact in blastic plasmacytoid dendritic cell neoplasm.
Article in Leukemia, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 92 papers.
What it found
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Who cites it
92 citing papers in PubMed.
- Decreased TXNRD1 is associated with resistance to tagraxofusp in blastic plasmacytoid dendritic cell neoplasms, as seen in phase II.Leukemia · 2026Trial
- Trial
- Clinico-hematopathologic and Genetic Characteristics of Korean Patients with Blastic Plasmacytoid Dendritic Cell Neoplasm: A Retrospective Single-Center Cohort Study.Annals of laboratory medicine · 2026Article
- Ubiquitin-conjugating Enzymes in Cancer.International journal of biological sciences · 2026Review
- Genetic characteristics of blastic plasmacytoid dendritic cell neoplasm: A single institution experience.Oncotarget · 2025Article
- Diagnostic approach to blastic plasmacytoid dendritic cell neoplasm: historical perspectives and current understanding.Journal of clinical and experimental hematopathology : JCEH · 2025Review
- BPDCN MYB fusions regulate cell cycle genes, impair differentiation, and induce myeloid-dendritic cell leukemia.JCI insight · 2024Article
- 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 in Jinhua, China: Two case reports.World journal of clinical cases · 2024Article
- Diagnostic management of blastic plasmacytoid dendritic cell neoplasm (BPDCN) in close interaction with therapeutic considerations.Annals of hematology · 2024Article
- Article
- [Blastic plasmacytoid dendritic cell tumor treated with DVT regimen: a case report and literature review].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2024Review
- Multiple Genomic Alterations, Including a NovelInternational journal of molecular sciences · 2023Review
- Blastic Plasmocytoid Dendritic Cell Neoplasm (BPDCN): Clinical Features and Histopathology with a Therapeutic Overview.Hematology reports · 2023Review
- Article
- Coincidence of cutaneous blastic plasmacytoid dendritic cell neoplasm and myelodysplastic syndrome derived from clonal hematopoiesis.Blood cancer journal · 2023Article
- Article
- TET2 truncating mutations predict a worse outcome in blastic plasmacytoid dendritic cell neoplasm.Blood advances · 2023Article
- Plasmacytoid dendritic cell neoplasms.Blood research · 2023Review
- Article
32 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
19 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a very rare disease that currently lacks genomic and genetic biomarkers to assist in its clinical management. We performed whole-exome sequencing (WES) of three BPDCN cases. Based on these data, we designed a resequencing approach to identify mutations in 38 selected genes in 25 BPDCN samples. WES revealed 37-99 deleterious gene mutations per exome with no common affected genes between patients, but with clear overlap in terms of molecular and disease pathways (hematological and dermatological disease). We identified for the first time deleterious mutations in IKZF3, HOXB9, UBE2G2 and ZEB2 in human leukemia. Target sequencing identified 29 recurring genes, ranging in prevalence from 36% for previously known genes, such as TET2, to 12-16% for newly identified genes, such as IKZF3 or ZEB2. Half of the tumors had mutations affecting either the DNA methylation or chromatin remodeling pathways. The clinical analysis revealed that patients with mutations in DNA methylation pathway had a significantly reduced overall survival (P=0.047). We provide the first mutational profiling of BPDCN. The data support the current WHO classification of the disease as a myeloid disorder and provide a biological rationale for the incorporation of epigenetic therapies for its treatment.
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