AUTHOR=Liongue Clifford , Ward Alister Curtis 

TITLE=Granulocyte Colony-Stimulating Factor Receptor Mutations in Myeloid Malignancy

JOURNAL=Frontiers in Oncology

VOLUME=4

YEAR=2014

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2014.00093

DOI=10.3389/fonc.2014.00093

ISSN=2234-943X

ABSTRACT=<p>Granulocyte colony-stimulating factor is a cytokine able to stimulate both myelopoiesis and hematopoietic stem cell mobilization, which has seen it used extensively in the clinic to aid hematopoietic recovery. It acts specifically via the homodimeric granulocyte colony-stimulating factor receptor (G-CSFR), which is principally expressed on the surface of myeloid and hematopoietic progenitor cells. A number of pathogenic mutations have now been identified in <italic>CSF3R</italic>, the gene encoding G-CSFR. These fall into distinct classes, each of which is associated with a particular spectrum of myeloid disorders, including malignancy. This review details the various <italic>CSF3R</italic> mutations, their mechanisms of action, and contribution to disease, as well as discussing the clinical implications of such mutations.</p>