Increased plasma d-2-hydroxyglutarate in isocitrate dehydrogenase 2-mutated blastic plasmacytoid dendritic cell neoplasm

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Blastic plasmacytoid dendritic cell neoplasm is an exceedingly rare hematologic malignancy derived from the precursors of plasmacytoid dendritic cells. Mutations in isocitrate dehydrogenase (IDH) 1 and 2 genes have been discovered in a range of neoplasms including glioma, acute myeloid leukemia, chondrosarcoma, and intrahepatic cholangiocarcinoma. Mutant IDH acquires neomorphic enzymatic activity to generate the oncometabolite d-2-hydroxyglutarate (d-2HG). Here, we describe the first case of an IDH2 R140Q-mutated blastic plasmacytoid dendritic cell neoplasm in a patient with markedly elevated plasma d-2HG. This finding expands the spectrum of neoplasms with increased d-2HG in association with IDH mutation. The roles of IDH mutation and d-2HG in disease pathogenesis and assessment of clinical response are discussed.

Original languageEnglish (US)
Pages (from-to)322-326
Number of pages5
JournalHuman Pathology
Issue number2
Publication statusPublished - Feb 1 2015



  • Blastic plasmacytoid dendritic cell neoplasm d-2-hydroxyglutarate
  • Hypermethylation
  • IDH mutation
  • Oncometabolite

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Medicine(all)

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