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

M.R. Sapienza, F. Abate, F. Melle, S. Orecchioni, F. Fuligni, M. Etebari, V. Tabanelli, M.A. Laginestra, A. Pileri, G. Motta, M. Rossi, C. Agostinelli, E. Sabattini, N. Pimpinelli, M. Truni, B. Falini, L. Cerroni, G. Talarico, R. Piccioni, S. AmenteV. Indio, G. Tarantino, F. Brundu, M. Paulli, E. Berti, F. Facchetti, G.I. Dellino, F. Bertolini, C. Tripodo, R. Rabadan, S.A. Pileri

Research output: Contribution to journalArticle

Abstract

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive hematologic malignancy for which there is still no effective B 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
Original languageEnglish
Pages (from-to)729-737
Number of pages9
JournalHaematologica
Volume104
Issue number4
DOIs
Publication statusPublished - 2019

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Keywords

  • azacitidine
  • decitabine
  • romidepsin
  • transcriptome
  • adult
  • animal experiment
  • animal model
  • animal tissue
  • Article
  • CAL-1 [Human melanoma] cell line
  • chromatin immunoprecipitation
  • clinical article
  • controlled study
  • dendritic cell sarcoma
  • epigenetics
  • female
  • gene mutation
  • hematopoietic stem cell transplantation
  • histone methylation
  • human
  • immune dysregulation
  • immunohistochemistry
  • male
  • middle aged
  • mouse
  • nonhuman
  • plasmacytoid dendritic cell
  • protein expression
  • RNA sequence
  • Sanger sequencing
  • single nucleotide polymorphism
  • somatic mutation
  • upregulation
  • whole exome sequencing

Cite this

Sapienza, M. R., Abate, F., Melle, F., Orecchioni, S., Fuligni, F., Etebari, M., Tabanelli, V., Laginestra, M. A., Pileri, A., Motta, G., Rossi, M., Agostinelli, C., Sabattini, E., Pimpinelli, N., Truni, M., Falini, B., Cerroni, L., Talarico, G., Piccioni, R., ... Pileri, S. A. (2019). Blastic plasmacytoid dendritic cell neoplasm: Genomics mark epigenetic dysregulation as a primary therapeutic target. Haematologica, 104(4), 729-737. https://doi.org/10.3324/haematol.2018.202093