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Interpretation 62
Tier 1
STAT3
Variants
Primary Sites
Blood
Bone Marrow
Lymph Node
Tumor Types
T-Cell LGL Leukemia
T Cell Lymphoproliferative Disorder
NK Cell Lymphoproliferative Disorder
Interpretation

Signal transducer and activator of transcription 3 gene (STAT3) plays an important role in the JAK/STAT signaling pathway induced by cytokine and growth factor receptor activation. STAT3 mutations have been reported in approximately 40% of cases of T-cell large granular lymphocytic leukemia and one third of NK cell lymphoproliferative disorders; these mutations are typically missense mutations or inframe insertions mutations in exons 20 and 21 which encode the Src homology 2 (SH2) domain that mediates the dimerization and activation of STAT protein; these mutations are typically associated with increased transcriptional activity. In addition, the presence of STAT3-mutant T-LGL clones may be found in a subset of patients with aplastic anemia and/or myelodysplastic syndrome. Therapeutic targetting of STAT3 is currently under investigation in various settings.

Citations
  1. Munoz J, et al. STAT3 inhibitors: finding a home in lymphoma and leukemia. Oncologist 2014;19(5):536-44
  2. Koskela HL, et al. Somatic STAT3 mutations in large granular lymphocytic leukemia. N Engl J Med 2012;366(20):1905-13
  3. Jerez A, et al. STAT3 mutations unify the pathogenesis of chronic lymphoproliferative disorders of NK cells and T-cell large granular lymphocyte leukemia. Blood 2012;120(15):3048-57
  4. Jerez A, et al. STAT3 mutations indicate the presence of subclinical T-cell clones in a subset of aplastic anemia and myelodysplastic syndrome patients. Blood 2013;122(14):2453-9
Last updated: 2016-06-05 02:01:56 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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