Role of germline genetic factors in MPN pathogenesis.

It is thought that myeloproliferative neoplasms (MPNs) are driven by somatic mutations, although hereditary factors also play a prominent role in the pathogenesis of the disease. Hereditary thrombocytosis and erythrocytosis are not malignant disorders but are clinically similar to MPNs. Several mutations have been found that explain a proportion of hereditary thrombocytosis and hereditary erythrocytosis. Germline variants can influence the risk of leukemic transformation in MPNs and the course of the disease through interaction with acquired chromosomal aberrations. Overall, it has been shown that germline factors play an important part in MPN pathogenesis.