Simultaneous deletion of 3'ETV6 and 5' EWSR1 genes in blastic plasmacytoid dendritic cell neoplasm: Case report and literature review

Zhenya Tang*, Guilin Tang, Sa A. Wang, Xinyan Lu, Ken H. Young, Carlos E. Bueso-Ramos, Yesid Alvarado, L. Jeffrey Medeiros, Joseph D. Khoury

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

16 Scopus citations

Abstract

Background: Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematologic malignancy. Based on literature reports of limited cases, over 50 % of BPDCN have chromosomal abnormalities, but no single chromosomal change has been identified as diagnostic of this entity. Case presentation: In this report, we present a case of BPDCN with complicated chromosomal abnormalities involving chromosomes 12 and 22 and resulting in a simultaneous partial deletion of ETV6 and EWSR1. Notably, these aberrations were identified in bone marrow myeloid precursors in the absence of bone marrow involvement by BPDCN. Conclusion: Analysis of 46 BPDCN cases with abnormal karyotypes (45 from literature reports plus this case) showed that 12p- is one of the most common structural aberrations in BPDCN. The ETV6 and CDKN1B on 12p deserve further investigations as potential markers of BPDCN.

Original languageEnglish (US)
Article number23
JournalMolecular Cytogenetics
Volume9
Issue number1
DOIs
StatePublished - 2016

Keywords

  • 12p-
  • Blastic plasmacytoid dendritic cell neoplasm (BPDCN)
  • CNKN1B
  • Chromosomal abnormality
  • ETV6
  • EWSR1
  • Karyotype

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Genetics(clinical)
  • Biochemistry, medical

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