The Molecular Pathology Laboratory now offers CXCR4 Mutational Analysis (LAB9295) for in-house testing.

C-X-C motif chemokine receptor type 4 (CXCR4) encodes a G protein coupled receptor (GPCR) protein required for regulation of cell proliferation and cell migration in patients with Waldenström macroglobulinemia. Patients with CXCR4 mutations may be candidates for targeted therapy since CXCR4 antagonists have been used in patients with WHIM syndrome. The presence of CXCR4 mutations may affect response to Ibrutinib therapy [Kaiser 2021].

Testing requires peripheral blood collected in a dedicated pink or lavender top EDTA tube. A minimum volume of 3 ml is recommended. Testing is performed using a targeted next-generation sequencing panel for coverage of the C-terminus of CXCR4 exon 2.

Questions should be directed to Matthew Krasowski, MD, PhD (384-9380, matthew-krasowski@uiowa.edu).