The CSF1R gene is consistently lost by partial deletions occurring in chromosome 5 in patients with Myelodysplastic syndrome (MDS)1. Specific deletion of the CSFS1R gene has been detected in as many as 40% of MDS patients. Studies have also shown that up to 58% of all breast carcinomas and 85% of invasive breast carcinomas express higher levels of CSF1R compared to normal resting breast tissue2,3. There also seems to be evidence to suggest that the expression of CSF1R in cervical cancer is usually associated with a more aggressive and invasive disease4. EGR aids in this diagnosis by helping determine whether there is a complete loss of chromosome 5 versus a 5q deletion (5q-) present in MDS5.
1. What lies beyond del(5q) in myelodysplastic syndrome? Vera Adema and Rafael Bejar. Haematologica. 2013 Dec; 98(12): 1819–1821
2. The role of CSF-1 in normal physiology of mammary gland and breast cancer: an update. Sapi E. Exp Biol Med (Maywood). 2004; 229 (1): 1-11.
3. Autocrine CSF-1R activation promotes Src-dependent disruption of mammary epithelial architecture. Wrobel CN, A B Debnath J, Lin E, Beausoleil S, Roussel MF, Brugge JS. J Cell Biol. 2004; 165 (2): 263-73.
4. Expression of the macrophage colony-stimulating factor and its receptor in gynecologic malignancies. Baiocchi G, Kavanagh J, Talpaz M, Wharton JT, Gutterman JU, Kurzrock R. Cancer 1991; 67 (4): 990-996
5. Biological and Prognostic Significance of Chromosome 5q Deletions in Myeloid Malignancies. Aristoteles A.N. Giagounidis, Ulrich Germing and Carlo Aul. Clin Cancer Res January 1, 2006 12; 5
6. Clinical and Laboratory Standards Institute (CLSI). Protection of Laboratory workers from occupationally Acquired Infections; Approved Guideline-Fourth Edition CLSI document M29-A4 Wayne, PA 2014.