Molecule
CXCR4
Chemokine receptor driving bone marrow homing
- Expression change
- WHIM-like mutations in ~30-40%
- Evidence level
- established
Role in pathogenesis
CXCR4 is a chemokine receptor for CXCL12 (SDF-1). WHIM-like mutations (most commonly S338X) cause sustained receptor signaling and enhanced bone marrow homing. These mutations are associated with higher IgM, more hyperviscosity, and reduced response to BTK inhibitors.
Sources (4)
DetailsHunter ZR et al. (2014) The genomic landscape of Waldenstrom macroglobulinemia is characterized by highly recurring MYD88 and WHIM-like CXCR4 mutations, and small somatic deletions associated with B-cell lymphomagenesis.DOI ↗