Korean J Dermatol.  2023 Jan;61(1):57-61.

A Case of Blastic Plasmacytoid Dendritic Cell Neoplasm with Mutations in DNMT3A, TET2, SRSF2, and ATRX Genes

• Yoo DW
• Park KD
• Kwon HJ
• Kim KH
• Yoon JH

Abstract

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive lymphoma with an overall incidence of 0.04 cases per 100,000 people. BPDCN is a hematopoietic clonal neoplasm that originates from plasmacytoid dendritic cell precursors. A 63-year-old man presented with multiple erythematous nodules over his whole body, including his face, trunk, and both upper and lower extremities that appeared 1 month ago. Skin biopsy showed diffuse dermal infiltration by monomorphic atypical lymphocytes with large, irregular nuclei and scant cytoplasms. Immunohistochemical staining was positive for CD4, CD56, and CD123. The karyotype test showed abnormalities in male chromosomes 47, XY, ＋8 [2]/46, and XY [25], and mutations in DNMT3A, TET2, SRSF2, and ATRX genes were identified in a next-generation sequencing (NGS)-based acute myeloid leukemia gene panel test. The patient was diagnosed with BPDCN and treated with a KALLA 1406 regimen; however, he died on the 17th day of treatment.

Keyword

Blastic plasmacytoid dendritic cell neoplasm; High-throughput nucleotide sequencing