JAK2-mutated Langerhans cell histiocytosis associated with primary myelofibrosis treated with ruxolitinib

Arturo Bonometti, Filippo Bagnoli, Daniele Fanoni, Luigia Venegoni, Laura Corti, Paola Bianchi, Elena Maria Elli, Giuseppe Isimbaldi, Vincenzo L'Imperio, Gianluca Nazzaro, Emanuela Passoni, Emilio Berti

Research output: Contribution to journalArticlepeer-review


The pathogenesis and cellular origin of Langerhans cell histiocytosis (LCH) are debated. Recently, mutations on MAPK and PI3K pathways have been linked to disrupted cell proliferation in LCH. Janus Kinase 2 (JAK2) mutations play the same role in Philadelphia-negative chronic myeloproliferative neoplasms. We describe the case of a patient affected by JAK2-positive primary myelofibrosis (PMF) who developed a clonally related LCH while in treatment with ruxolitinib. JAK inhibitors are well known to affect function and differentiation of different hematological lineages, including mononuclear phagocytes precursors. Nevertheless, the literature describes cases of LCH clonally associated with non-LCH hematological neoplasm, suggesting how multilinear myeloid neoplasms may arise from bone marrow. Hence, we briefly discuss the possible pathogenic roles of genetic mutations and JAK inhibition therapy in the pathogenesis of LCH and associated neoplasms.

Original languageEnglish
Pages (from-to)171-175
Number of pages5
JournalHuman Pathology
Publication statusPublished - Mar 1 2018


  • JAK2
  • Langerhans cell histiocytosis
  • Laser microdissection
  • Multilineage myeloid neoplasms
  • Primary myelofibrosis
  • Ruxolitinib

ASJC Scopus subject areas

  • Pathology and Forensic Medicine


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