Two Cases With Features of Lymphocyte Variant Hypereosinophilic Syndrome With STAT3 SH2 Domain Mutations

Am J Surg Pathol. 2021 Feb 1;45(2):193-199. doi: 10.1097/PAS.0000000000001604.

Abstract

Lymphocyte variant hypereosinophilic syndrome (LV-HES) is a rare cause of eosinophilia that is due to eosinophilipoietic cytokine production by an immunophenotypically abnormal T-cell clone. The molecular pathogenesis of this disorder is largely unknown and only 1 case of LV-HES with a pathogenic STAT3 mutation has been described thus far. Here we report 2 cases of LV-HES with STAT3 SH2 domain mutations. These cases further support the model that activation of STAT3 signaling through STAT3 SH2 domain mutations is a recurrent event in LV-HES.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Female
  • Humans
  • Hypereosinophilic Syndrome / genetics
  • Hypereosinophilic Syndrome / pathology*
  • Male
  • Mutation
  • STAT3 Transcription Factor / genetics*
  • T-Lymphocytes / pathology*
  • src Homology Domains / genetics*

Substances

  • STAT3 Transcription Factor
  • STAT3 protein, human