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Interpretation 25
Tier 3
TLR2
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
Myelodysplastic Syndrome
Interpretation

Toll-like receptor (TLR) genes encode important components of innate immune system which is believed to play a role in the pathophysiology of myelodysplastic syndromes(MDS). Various TLR isoforms have been shown to be overexpressed in bone marrow CD34+ cells in MDS. In addition, the TLR2 p.F217S has been reported in approximately 10% of MDS patients. This variant is associated with enhanced activation of downstream signaling including NF-κB activity. TLR2 p.F217S may be associated with a higher frequency of chromosome 7 deletion in MDS as well. It is important to note that the TLR2 p.F217S variant has not been clearly established as a somatic variant and it is reported in the ESP database with an overall allele frequency of approximatly 0.3%. The potenital role of therapeutic targeting of TLR2 in MDS remains to be established.

Citations
  1. Wei Y, et al. Toll-like receptor alterations in myelodysplastic syndrome. Leukemia 2013;27(9):1832-40
  2. Bea S, et al. Landscape of somatic mutations and clonal evolution in mantle cell lymphoma. Proc Natl Acad Sci U S A 2013;110(45):18250-5
Last updated: 2016-06-04 22:14:48 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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