Clinico-hematopathologic and Genetic Characteristics of Korean Patients with Blastic Plasmacytoid Dendritic Cell Neoplasm: A Retrospective Single-Center Cohort Study
Year: 2025
Type: article
Study design: Observational Study
Abstract: Background: Blastic plasmacytoid dendritic cell neoplasms (BPDCNs) are rare and aggressive hematologic malignancies with poorly defined molecular characteristics. Genetic data for Korean patients with this condition are scarce. We conducted the first network-based analysis of Korean patients with BPDCN, using next-generation sequencing (NGS) alongside clinical, morphological, and cytogenetic evaluations. Methods: We included 14 patients diagnosed with BPDCN between 2004 and 2021. Clinical, morphological, and cytogenetic data were collected. Conventional karyotyping and targeted NGS were performed. Network analysis was used to link gene variants with known BPDCN-associated genes. Results: . Network analysis revealed functional associations between these novel alterations and established BPDCN-related genes. Conclusions: We present the first network-based analysis of Korean patients with BPDCN, along with conventional genetic assessments, highlighting the potential genetic drivers of BPDCN and facilitating the development of targeted therapies for the disease.
Source: Annals of Laboratory Medicine
Institutions: Asan Medical Center, University of Ulsan, Korea Bioinformation Center, Korea Research Institute of Bioscience and Biotechnology, Green Cross (South Korea), Green Cross Laboratories (South Korea), Ewha Womans University, Ewha Womans University Medical Center, Ewha Womans University Mokdong Hospital
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
Award: G5129092745
OpenAlex ID: W4415231389