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

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1 Citation (Scopus)

Abstract

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
Volume73
DOIs
Publication statusPublished - Mar 1 2018

Fingerprint

Janus Kinase 2
Langerhans Cell Histiocytosis
Primary Myelofibrosis
Mutation
Non-Langerhans-Cell Histiocytosis
Neoplasms
Hematologic Neoplasms
Phagocytes
Phosphatidylinositol 3-Kinases
Bone Marrow
Cell Proliferation
INCB018424
Therapeutics

Keywords

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

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Cite this

JAK2-mutated Langerhans cell histiocytosis associated with primary myelofibrosis treated with ruxolitinib. / Bonometti, Arturo; Bagnoli, Filippo; Fanoni, Daniele; Venegoni, Luigia; Corti, Laura; Bianchi, Paola; Elli, Elena Maria; Isimbaldi, Giuseppe; L'Imperio, Vincenzo; Nazzaro, Gianluca; Passoni, Emanuela; Berti, Emilio.

In: Human Pathology, Vol. 73, 01.03.2018, p. 171-175.

Research output: Contribution to journalArticle

Bonometti, Arturo ; Bagnoli, Filippo ; Fanoni, Daniele ; Venegoni, Luigia ; Corti, Laura ; Bianchi, Paola ; Elli, Elena Maria ; Isimbaldi, Giuseppe ; L'Imperio, Vincenzo ; Nazzaro, Gianluca ; Passoni, Emanuela ; Berti, Emilio. / JAK2-mutated Langerhans cell histiocytosis associated with primary myelofibrosis treated with ruxolitinib. In: Human Pathology. 2018 ; Vol. 73. pp. 171-175.
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