CD4-Negative Variant of Cutaneous Blastic Plasmacytoid Dendritic Cell Neoplasm With a Novel PBRM1 Mutation in an 11-Year-Old Girl. uri icon

Overview

abstract

  • OBJECTIVES: We report a rare case of CD4- cutaneous blastic plasmacytoid dendritic cell neoplasm (BPDCN) with a novel PBRM1 mutation. METHODS: An 11-year-old girl presented with an enlarged mass on her left arm and underwent an incisional biopsy. RESULTS: Histopathologic examination and immunohistochemistry studies showed a monotonous proliferation of blasts that were CD4-, CD56+, and CD123+. There was no evidence of leukemic dissemination. Next-generation sequencing detected PBRM1 and CIC gene abnormalities. We confirmed and validated a novel PBRM1 mutation by conventional polymerase chain reaction and Sanger sequencing. CONCLUSIONS: CD4- variant of BPDCN may be mistaken for myeloid sarcoma or extramedullary lymphoblastic leukemia/lymphoma because of their overlapping morphologic and immunophenotypic features; thus, a careful clinicopathologic evaluation is essential to reach the correct diagnosis. PBRM1 mutation seems to be a driver event in this case. Our study underscores the importance of alterations in chromatin remodeling in the pathogenesis of BPDCN.

publication date

  • May 1, 2017

Research

keywords

  • Dendritic Cells
  • Hematologic Neoplasms
  • Nuclear Proteins
  • Transcription Factors

Identity

Scopus Document Identifier

  • 85026382453

Digital Object Identifier (DOI)

  • 10.1093/ajcp/aqx012

PubMed ID

  • 28419186

Additional Document Info

volume

  • 147

issue

  • 5