Molecular mechanisms of abnormal cell proliferation in transient myeloproliferative disorder and acute megakaryoblastic leukemia of Down syndrome

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We performed this study to clarify molecular mechanisms of abnormal cell proliferation in transient myeloproliferative disorder (TMD) and acute megakaryoblastic leukemia of Down syndrome (DS-AMKL), and found the following results.1. We identified 3 novel JAK3 mutations in a DS-AMKL cell line and a TMD patient, and demonstrated that these mutations were all activating mutations.2. We showed that JAK3 inhibitors would have therapeutic effects on TMD and DS-AMKL patients carrying activating JAK3 mutations.