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JAK3
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Interpretation 198
Tier 3
JAK3
Variants
JAK3 V722I
Primary Sites
Lung
Thyroid
Colon
Pancreas
Bladder
Tumor Types
Adenocarcinoma
Papillary Carcinoma
Urothelial Carcinoma
Interpretation

JAK3 is a non-receptor protein tyrosine kinase involved in the interferon-alpha/beta/gamma pathway and is a member of the JAK/STAT signaling pathway. The JAK3 V722I variant has been reported as a likely benign germline polymorphism (ClinVar, https://preview.ncbi.nlm.nih.gov/clinvar/variation/134573/) and also as an acquired somatic variant in some tumors. It has been reported to be an activating variant of JAK3 and initial in vitro studies suggest that this variant may play a role in the regulation of PD-L1 expression. Also, V722I resulted in constitutive phosphorylation of Jak3 and was transforming in cell culture. Clinical correlation is recommended.

Citations
  1. Van Allen EM, et al. Long-term Benefit of PD-L1 Blockade in Lung Cancer Associated with JAK3 Activation. Cancer Immunol Res 2015;3(8):855-63
  2. Bouchekioua A, et al. JAK3 deregulation by activating mutations confers invasive growth advantage in extranodal nasal-type natural killer cell lymphoma. Leukemia 2014;28(2):338-48
  3. Walters DK, et al. Activating alleles of JAK3 in acute megakaryoblastic leukemia. Cancer Cell 2006;10(1):65-75
  4. Bouchekioua A, et al. JAK3 deregulation by activating mutations confers invasive growth advantage in extranodal nasal-type natural killer cell lymphoma. Leukemia 2014;28(2):338-48
  5. Walters DK, et al. Activating alleles of JAK3 in acute megakaryoblastic leukemia. Cancer Cell 2006;10(1):65-75
Last updated: 2019-01-22 19:22:47 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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