Mastocytosis- a mutated KIT receptor induced myeloproliferative disorder

Anindya Chatterjee, Joydeep Ghosh, Reuben Kapur

Research output: Contribution to journalArticle

15 Scopus citations


Although more than 90% systemic mastocytosis (SM) patients express gain of function mutations in the KIT receptor, recent next generation sequencing has revealed the presence of several additional genetic and epigenetic mutations in a subset of these patients, which confer poor prognosis and inferior overall survival. A clear understanding of how genetic and epigenetic mutations cooperate in regulating the tremendous heterogeneity observed in these patients will be essential for designing effective treatment strategies for this complex disease. In this review, we describe the clinical heterogeneity observed in patients with mastocytosis, the nature of relatively novel mutations identified in these patients, therapeutic strategies to target molecules downstream from activating KIT receptor and finally we speculate on potential novel strategies to interfere with the function of not only the oncogenic KIT receptor but also epigenetic mutations seen in these patients.

Original languageEnglish (US)
Pages (from-to)18250-18264
Number of pages15
Issue number21
StatePublished - 2015


  • Alternative targets in mastocytosis
  • KIT mutations
  • Mastocytosis
  • Myeloproliferative disorder
  • Signaling pathways in mastocytosis

ASJC Scopus subject areas

  • Oncology

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