Radhika Amin

The role of JAK2, MPL, and CALR genetic mutations in the development of myeloproliferative neoplasms

Started Mar. 4, 2022

Abstract or project description

Myeloproliferative neoplasms (MPN) are a group of three rare, life-threating conditions caused by bone marrow over proliferation. MPNs are clonal hematologic disorders that occur due to the excess accumulation of one or more myeloid cell lineages. The primary genes that have been shown to cause the neoplasms are referred to as MPN drivers. MPN drivers include the JAK2, MPL, and CALR genes. These genes have been implicated in three MPN subtypes: essential thrombocythemia, polycythemia vera, and primary myelofibrosis. Primary myelofibrosis is the most aggressive subtype of the classical MPN, and it is characterized by megakaryocyte differentiation (myelodysplasia) which leads to the release of cytokines in the bone marrow. Essential thrombocythemia is closely related to primary myelofibrosis as they can both be driven by and included in mutations in JAK2, MPL, and CALR. Polycythemia vera has only been shown to be caused by mutations in MPL and CALR. In this review, we provide a comprehensive summary of the role that the JAK2, MPL, and CALR genes play in the development of myeloproliferative neoplasms.