Genomic aberrations involving 12p/ETV6 are highly prevalent in blastic plasmacytoid dendritic cell neoplasms and might represent early clonal events

Zhenya Tang*, Yan Li, Wei Wang, C. Cameron Yin, Guilin Tang, Phyu P. Aung, Shimin Hu, Xinyan Lu, Gokce A. Toruner, L. Jeffrey Medeiros, Joseph D. Khoury

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

20 Scopus citations

Abstract

Background: Chromosomal aberrations at the ETV6 gene locus on 12p13.2 are common in bone marrow samples involved by blastic plasmacytoid dendritic cell neoplasm (BPDCN). However, their pathogenic role, incidence in cutaneous BPDCN lesions, and clinical significance have not been assessed systematically. Results: The study group included 30 BPDCN patients, 25 men and 5 women, with a median age of 64 years. Conventional cytogenetic analysis demonstrated karyotypic aberrancies in 15 cases, of which 8 had chromosomal lesions involving 12p. In addition, 2 cases with normal diploid karyotype had cryptic 12p/ETV6 deletion by ETV6 FISH test. Notably, 2 bone marrow samples with ETV6 rearrangement had no detectable BPDCN involvement, but otherwise dynamic changes in the detection of 12p/ETV6 aberrations correlated with the presence of morphologically and/or immunophenotypically detectable disease. Tissue specimens from 6 patients with cutaneous BPDCN all tested positive for homozygous or heterozygous ETV6 deletions. Conclusion: We demonstrate that monoallelic and biallelic 12p/ETV6 deletions are highly prevalent in BPDCN, and their detection is enhanced by the use of FISH and aCGH. In addition, 12p/ETV6 may be present in the bone marrow of BPDCN patients in the absence of detectable disease suggesting that such alterations might represent an early pathogenic event.

Original languageEnglish (US)
Pages (from-to)86-94
Number of pages9
JournalLeukemia Research
Volume73
DOIs
StatePublished - Oct 2018

Keywords

  • 12p/ETV6 aberration
  • Blastic plasmacytoid dendritic cell neoplasm (BPDCN)
  • Fluorescence in situ hybridization (FISH)
  • aCGH

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Cancer Research

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