Immunogenetic Factors in the Pathogenesis of Myeloproliferative Neoplasms

This chapter summarizes the findings of recent reports on immunogenetic studies in myeloproliferative neoplasms (MPNs) without BCR::ABL1 translocation. The focus is on three entities, namely essential thrombocythemia (ET), polycythemia vera (PV), and primary myelofibrosis (PMF), which are driven by JAK2 V617F or CALR mutations. We mainly discuss the identified potential protective human leukocyte antigen class I or II (HLA-I or -II) alleles in MPNs with either type of mutations. We further mention the potential role of polymorphisms in NKG2D ligand genes that has been investigated in the settings of MPNs. Finally, we describe the known mechanisms of immune surveillance evasion in MPNs. In sum, more in-depth understanding of the role of various immunogenetic factors in MPNs will help optimizing the therapeutic approaches in those diseases.