A case of recurrent histiocytic sarcoma with MAP2K1 pathogenic variant treated with the MEK inhibitor trametinib

Int J Hematol. 2019 Feb;109(2):228-232. doi: 10.1007/s12185-018-2553-9. Epub 2018 Oct 25.

Abstract

Histiocytic sarcoma in advanced clinical stages is typically an aggressive neoplasm, with poor response to conventional chemotherapy. An 18-year-old male with refractory histiocytic sarcoma that had transformed from Rosai-Dorfman disease was admitted to our hospital. A pathogenic variant of MAP2K1 was detected by next-generation sequencing of tumor specimens. Affected regions showed excellent responses to the MEK inhibitor trametinib. It has been reported that RAS/MEK/ERK pathway is activated in many cases of histiocytic sarcoma. MEK inhibition may represent a useful treatment option in histiocytic sarcoma.

Keywords: Histiocytic sarcoma; MAP2K1; MEK inhibitor; Rosai–Dorfman disease; Trametinib.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Histiocytic Sarcoma / drug therapy*
  • Humans
  • MAP Kinase Kinase 1 / genetics*
  • MAP Kinase Signaling System / drug effects
  • Male
  • Protein Kinase Inhibitors / therapeutic use
  • Pyridones / therapeutic use*
  • Pyrimidinones / therapeutic use*
  • Recurrence
  • Treatment Outcome

Substances

  • Protein Kinase Inhibitors
  • Pyridones
  • Pyrimidinones
  • trametinib
  • MAP Kinase Kinase 1
  • MAP2K1 protein, human