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Current Hematologic Malignancy Reports

, Volume 13, Issue 6, pp 477–483 | Cite as

Blastic Plasmacytoid Dendritic Cell Neoplasm

  • Joseph D. KhouryEmail author
Molecular Testing and Diagnostics (J Khoury, Section Editor)
Part of the following topical collections:
  1. Topical Collection on Molecular Testing and Diagnostics

Abstract

Purpose of Review

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare malignancy derived from plasmacyoid dendritic cells whose biology, clinical features, and treatment options are increasingly better understood.

Recent Findings

TCF4 is a master regulator that drives donwstream transcriptional programs in BPDCN. In turn, TCF4 activity is dependent on the bromodomain and extra-terminal domain (BET) protein BRD4 whose inhibition provides a promising therapeutic vulnerability. Notably, TCF4 expression is a highly sensitive marker for BPDCN and augments diagnostic specificity alongside CD4, CD56, CD123, and TCL1. The gene expression profile of BPDCN is characterized by aberrant NF-kappaB pathway activation, while its genomic landscape is dominated by structural chromosomal alterations involving ETV6, MYC, and NR3C1, as well as mutations in epigenetic regulators particularly TET2.

Summary

Advances in elucidating the biological characteristics of BPDCN are resulting in a more refined diagnostic approach and are opening novel therapeutic avenues for patients with this disease.

Keywords

Plasmacytoid dendritic cells Blastic plasmacytoid dendritic cell neoplasm Acute leukemia CD123 TCF4 Flow cytometry 

Notes

Compliance with Ethical Standards

Conflict of Interest

Joseph D. Khoury has received research funding from Stemline Therapeutics.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

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Authors and Affiliations

  1. 1.Department of HematopathologyThe University of Texas M.D. Anderson Cancer CenterHoustonUSA

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