Cladribine treatment for Erdheim-Chester disease involving the central nervous system and concomitant polycythemia vera: A case report

J Clin Exp Hematop. 2018 Dec 13;58(4):161-165. doi: 10.3960/jslrt.18015. Epub 2018 Oct 10.

Abstract

Erdheim-Chester disease (ECD), a rare form of non-Langerhans cell histiocytosis, is characterized by the infiltration of foamy CD68+ and CD1a- histiocytes into multiple organ systems. Central nervous system (CNS) involvement has recently been reported to be a poor prognostic factor when treating ECD with interferon alpha. We report the case of a 66-year-old Japanese patient with ECD involving the CNS who harbored the BRAF V600E mutation and also concomitantly developed polycythemia vera with the JAK2 V617F mutation. We confirmed 2-chlorodeoxyadenosine (cladribine) therapy to be effective for the patient in this case.

Keywords: BRAF; Erdheim–Chester disease; JAK2; cladribine; polycythemia vera.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Amino Acid Substitution
  • Central Nervous System Diseases* / diagnostic imaging
  • Central Nervous System Diseases* / drug therapy
  • Central Nervous System Diseases* / enzymology
  • Central Nervous System Diseases* / genetics
  • Cladribine / administration & dosage*
  • Erdheim-Chester Disease* / diagnostic imaging
  • Erdheim-Chester Disease* / drug therapy
  • Erdheim-Chester Disease* / enzymology
  • Erdheim-Chester Disease* / genetics
  • Humans
  • Janus Kinase 2* / genetics
  • Janus Kinase 2* / metabolism
  • Male
  • Mutation, Missense*
  • Polycythemia Vera* / diagnostic imaging
  • Polycythemia Vera* / drug therapy
  • Polycythemia Vera* / enzymology
  • Polycythemia Vera* / genetics
  • Proto-Oncogene Proteins B-raf* / genetics
  • Proto-Oncogene Proteins B-raf* / metabolism

Substances

  • Cladribine
  • JAK2 protein, human
  • Janus Kinase 2
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf