Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target

Nat Commun. 2018 Apr 19;9(1):1567. doi: 10.1038/s41467-018-03987-2.

Abstract

Aggressive natural killer-cell (NK-cell) leukemia (ANKL) is an extremely aggressive malignancy with dismal prognosis and lack of targeted therapies. Here, we elucidate the molecular pathogenesis of ANKL using a combination of genomic and drug sensitivity profiling. We study 14 ANKL patients using whole-exome sequencing (WES) and identify mutations in STAT3 (21%) and RAS-MAPK pathway genes (21%) as well as in DDX3X (29%) and epigenetic modifiers (50%). Additional alterations include JAK-STAT copy gains and tyrosine phosphatase mutations, which we show recurrent also in extranodal NK/T-cell lymphoma, nasal type (NKTCL) through integration of public genomic data. Drug sensitivity profiling further demonstrates the role of the JAK-STAT pathway in the pathogenesis of NK-cell malignancies, identifying NK cells to be highly sensitive to JAK and BCL2 inhibition compared to other hematopoietic cell lineages. Our results provide insight into ANKL genetics and a framework for application of targeted therapies in NK-cell malignancies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Child
  • DEAD-box RNA Helicases / genetics
  • DEAD-box RNA Helicases / metabolism
  • Exome Sequencing
  • Female
  • Humans
  • Janus Kinases / genetics*
  • Janus Kinases / metabolism
  • Leukemia, Large Granular Lymphocytic / genetics*
  • Leukemia, Large Granular Lymphocytic / metabolism
  • Leukemia, Large Granular Lymphocytic / therapy
  • Male
  • Middle Aged
  • Mutation*
  • STAT3 Transcription Factor / genetics*
  • STAT3 Transcription Factor / metabolism
  • Signal Transduction
  • Young Adult

Substances

  • STAT3 Transcription Factor
  • STAT3 protein, human
  • Janus Kinases
  • DDX3X protein, human
  • DEAD-box RNA Helicases