Mastocytosis: a mutated KIT receptor induced myeloproliferative disorder
Metrics: HTML 1500 views | ?
Anindya Chatterjee1, Joydeep Ghosh1,2, Reuben Kapur1,2,3,4
1Department of Pediatrics, Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, Indiana, USA
2Department of Microbiology and Immunology, Indiana University School of Medicine, Indianapolis, Indiana, USA
3Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA
4Department of Molecular Biology and Biochemistry, Indiana University School of Medicine, Indianapolis, Indiana, USA
Anindya Chatterjee, e-mail: firstname.lastname@example.org
Reuben Kapur, e-mail: email@example.com
Keywords: mastocytosis, KIT mutations, myeloproliferative disorder, alternative targets in mastocytosis, signaling pathways in mastocytosis
Received: May 15, 2015 Accepted: May 23, 2015 Published: June 05, 2015
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.
All site content, except where otherwise noted, is licensed under a Creative Commons Attribution 3.0 License.