Abstract
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare aggressive hematologic malignancy with poor patient outcomes. However, a new drug (Elzonris) that has been approved by the FDA could be effective at treating this disease. The clinical presentation of BPDCN is broadly heterogeneous; it was most recently categorized as a distinct clinical entity by the World Health Organization classification of hematological malignancies in 2022 under histiocytic/dendritic cell neoplasms. The diagnosis of BPDCN has been challenging because its clinical features can be heterogeneous and can overlap with other hematologic neoplasms. Some studies have shown that 8q24/MYC rearrangement is a recurrent cytogenetic abnormality. In this chapter, one clinical case is used to demonstrate how the identification of genetic change (8q24/MYC rearrangement) by chromosome analysis and FISH helps the diagnosis of BPDCN.
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