Clinico-hematopathologic and Genetic Characteristics of Korean Patients with Blastic Plasmacytoid Dendritic Cell...

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.

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.

The median age at diagnosis was 52 yrs; the male:female ratio was 1.8:1. Cutaneous and bone marrow (BM) involvement were observed in 79% and 57% of patients at diagnosis, respectively; 85% of those not lost to follow-up eventually showed BM involvement. Allogeneic hematopoietic stem cell transplantation was associated with longer survival compared with chemotherapy alone (P =0.015). Complex karyotypes were common (87%), with novel chromosomal deletions at 1p, 18q, and 22q. BPDCN samples showed recurrent variations in TET2, ASXL1, and RAS-pathway genes, as well as novel variations in 22 genes, including SMARCD2, DDX3X, and GNB1. Network analysis revealed functional associations between these novel alterations and established BPDCN-related genes.

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.