Myeloproliferative Disease - Causes

Causes

All MPDs arise from precursors of the myeloid lineage in the bone marrow. The lymphoid lineage may produce similar diseases, the lymphoproliferative disorders (acute lymphoblastic leukemia, lymphomas, chronic lymphocytic leukemia and multiple myeloma).

Most cases have an activating JAK2 or MPL mutation. A smaller subset also have mutations in the genes LNK, CBL, TET2, ASXL1, IDH, IKZF1 or EZH2. The pathogenetic contribution of these mutations is being studied. 96% of patients with polycythemia vera have a V617F mutation in exon 14 of JAK2.

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