Haematologica (Apr 2019)

Blastic plasmacytoid dendritic cell neoplasm: genomics mark epigenetic dysregulation as a primary therapeutic target

  • Maria Rosaria Sapienza,
  • Francesco Abate,
  • Federica Melle,
  • Stefania Orecchioni,
  • Fabio Fuligni,
  • Maryam Etebari,
  • Valentina Tabanelli,
  • Maria Antonella Laginestra,
  • Alessandro Pileri,
  • Giovanna Motta,
  • Maura Rossi,
  • Claudio Agostinelli,
  • Elena Sabattini,
  • Nicola Pimpinelli,
  • Mauro Truni,
  • Brunangelo Falini,
  • Lorenzo Cerroni,
  • Giovanna Talarico,
  • Rossana Piccioni,
  • Stefano Amente,
  • Valentina Indio,
  • Giuseppe Tarantino,
  • Francesco Brundu,
  • Marco Paulli,
  • Emilio Berti,
  • Fabio Facchetti,
  • Gaetano Ivan Dellino,
  • Francesco Bertolini,
  • Claudio Tripodo,
  • Raul Rabadan,
  • Stefano A. Pileri

DOI
https://doi.org/10.3324/haematol.2018.202093
Journal volume & issue
Vol. 104, no. 4

Abstract

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Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive hematologic malignancy for which there is still no effective therapy. In order to identify genetic alterations useful for a new treatment design, we used whole-exome sequencing to analyze 14 BPDCN patients and the patient-derived CAL-1 cell line. The functional enrichment analysis of mutational data reported the epigenetic regulatory program to be the most significantly undermined (P