Interpretation 27
Tier 2|
|
|
Variants
Primary Sites
Interpretation
Mutations of CSF1R (M-CSF receptor) at codon 969 were initially reported in approximately 10-20% of cases of myelodsyplasia and acute myeloid leukemia including cases of chronic myelomonocytic leukemia and acute myeloid leukemia with monocytic differentiation. However, other studies have not been able to reproduce those findings. In addition to the Y969 mutation, other mutations in CSF1R as well as translocations involving CSF1R have been described in CSF1R. Interestingly, other mutations in CSF1R have also been reported to be associated with different disease, namely hereditary diffuse leukoenceophalopathy with spheroids.
Citations
- Tobal K, et al. Mutation of the human FMS gene (M-CSF receptor) in myelodysplastic syndromes and acute myeloid leukemia. Leukemia 1990;4(7):486-9
- Ridge SA, et al. FMS mutations in myelodysplastic, leukemic, and normal subjects. Proc Natl Acad Sci U S A 1990;87(4):1377-80
- Springall F, et al. c-fms point mutations in acute myeloid leukemia: fact or fiction? Leukemia 1993;7(7):978-85
- Natazuka T, et al. Rare point mutation at codon 301 and 969 of FMS/M-CSF receptor in acute myelomonocytic and monocytic leukemia. Leuk Res 1992;16(5):541-3
- Gu TL, et al. A novel fusion of RBM6 to CSF1R in acute megakaryoblastic leukemia. Blood 2007;110(1):323-33
- Lilljebjorn H, et al. RNA-seq identifies clinically relevant fusion genes in leukemia including a novel MEF2D/CSF1R fusion responsive to imatinib. Leukemia 2014;28(4):977-9
- Rademakers R, et al. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet 2011;44(2):200-5
Last updated: 2016-06-04 22:19:10 UTC