title: Simultaneous deletion of 3'ETV6 and 5'EWSR1 genes in blastic plasmacytoid dendritic cell neoplasm: case report and literature review.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Boulevard, Houston, TX 77030 USA.
authors.forename: Zhenya
authors.initials: Z
authors.lastname: Tang
authors.affiliation: Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Boulevard, Houston, TX 77030 USA.
authors.forename: Guilin
authors.initials: G
authors.lastname: Tang
authors.affiliation: Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Boulevard, Houston, TX 77030 USA.
authors.forename: Sa A
authors.initials: SA
authors.lastname: Wang
authors.affiliation: Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Boulevard, Houston, TX 77030 USA.
authors.forename: Xinyan
authors.initials: X
authors.lastname: Lu
authors.affiliation: Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Boulevard, Houston, TX 77030 USA.
authors.forename: Ken H
authors.initials: KH
authors.lastname: Young
authors.affiliation: Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Boulevard, Houston, TX 77030 USA.
authors.forename: Carlos E
authors.initials: CE
authors.lastname: Bueso-Ramos
authors.affiliation: Department of Leukemia, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Boulevard, Houston, TX 77030 USA.
authors.forename: Yesid
authors.initials: Y
authors.lastname: Alvarado
authors.affiliation: Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Boulevard, Houston, TX 77030 USA.
authors.forename: L Jeffrey
authors.initials: LJ
authors.lastname: Medeiros
authors.affiliation: Department of Hematopathology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Boulevard, Houston, TX 77030 USA.
authors.forename: Joseph D
authors.initials: JD
authors.lastname: Khoury
keywords: 12p-; Blastic plasmacytoid dendritic cell neoplasm (BPDCN); CNKN1B; Chromosomal abnormality; ETV6; EWSR1; Karyotype