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Genetic characteristics of blastic plasmacytoid dendritic cell neoplasm: A single institution experience.

Oncotarget - 17 Jun 2025

Fei Fei, Telatar Milhan, Tomasian Vanina, Chang Lisa, Danilova Olga, Arias-Stella Javier, Pillai Raju, Soma Lorinda, Tizro Parastou, Becker Pamela S, Stein Anthony S, Marcucci Guido, Afkhami Michelle

Abstract excerpt

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematological malignancy with poorly characterized molecular features. To identify disease-specific mutational profiles, we performed targeted next-generation sequencing (NGS) on a cohort of 21 BPDCN patients. Our study revealed that TET2 (57%) and ASXL1 (33%) were the most frequently mutated genes, followed by NRAS (29%), SRSF2 (14%), ZRSR2 (14%),...

Topics

Humans
Male
Aged
Female
Middle Aged
Dendritic Cells
Hematologic Neoplasms
Mutation
Adult
Dioxygenases
High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Prognosis

Aged, 80 and over

DNA-Binding Proteins

Biomarkers, Tumor

DNA Mutational Analysis

Proto-Oncogene Proteins

Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 40526100
DOI: 10.18632/oncotarget.28742
PMCID: PMC12173198

Genes

TET2
CCDC50
ASXL1
KMT2D
NRAS
SRSF2
ZRSR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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