Please use this identifier to cite or link to this item: http://elea.unisa.it:8080/xmlui/handle/10556/1383
Title: Molecular Genetics of Myelofibrosis and its associated Disease Phenotypes
Authors: Tabarroki, Ali
Tiu, Ramon V.
Keywords: Myelofibrosis
Pathogenesis
Molecular mutations
Issue Date: 2014
Citation: Tabarroki A, and Tiu RV. Molecular Genetics of Myelofibrosis and its associated Disease Phenotypes. Translational Medicine @ UniSa 2014;8(7):53-64
Abstract: In 2005, the discovery of Janus kinase 2 (JAK2) V617F mutation in approximately half of patients with myelofibrosis (MF) marked an important milestone in our understanding of the pathophysiology of MF. This has broadened our understanding of the disease pathogenesis and became the foundation for the development and subsequent clinical use of JAK inhibitors for MF. However, it is clear that other pathogenetic modifiers contribute to the disease diversity and phenotypic variability of MF. Novel genome scanning technologies were useful in the identification of recurrent molecular mutations in other genes including MPL, TET2, IDH1/2, DNMT3A, SH3B2 (LNK) and CBL in MF pointing out that other pathways might be important in addition to the JAK/STAT pathway. The biologic role and clinical implications of these molecular mutations in MF is currently under investigation. The main challenge is to understand the mechanisms whereby molecular mutations whether alone or in combination with other genetic and non-genetic events contribute to the pathogenesis of MF and eventually can explain the phenotypic variability among the MF patients. In the present review we will provide an overview of the molecular pathogenesis of MF describing past and recent discoveries in molecular markers and their possible relevance in disease phenotype.
URI: http://hdl.handle.net/10556/1383
http://dx.doi.org/10.14273/unisa-232
ISSN: 2239-9747
Appears in Collections:Translational Medicine @ UniSa. Vol.8 (jan.-mar. 2014)

Files in This Item:
File Description SizeFormat 
Tabarroki A, and Tiu RV. Molecular Genetics of Myelofibrosis and its associated Disease Phenotypes.pdfarticolo di rivista1,1 MBAdobe PDFView/Open


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.