Activation of JAKs is implicated in tumorigenesis, and genetic alterations of genes encoding JAKs are partly responsible for activations of JAK signaling.JAK3 mutations were detected in acute megakaryoblastic leukemia (p.A572V, p.V722I, and p.P132T), and these mutations were activating mutations that confer growth factor-independent growth on cells. These data indicate that JAK3 gene is mutated in human cancers, and suggest a possibility that JAK3 might be targets for somatic mutations in human cancers.
Lin Q, et al. Constitutive activation of JAK3/STAT3 in colon carcinoma tumors and cell lines: inhibition of JAK3/STAT3 signaling induces apoptosis and cell cycle arrest of colon carcinoma cells[J]. The American journal of pathology, 2005, 167(4): 969-980.