Targeted next generation sequencing in JAK2V617F negative patients with erythrocytosis and JAK2 GGCC_46/1 haplotype. Homo sapiens

This study suggests that the JAK2 GGCC haplotype was significantly associated with erythrocytosis cases and with the presence of CALR rs1049481_G allele. This genetic background based on polymorphisms related to the JAK-STAT pathway is associated in 26.7% of cases with additional somatic mutations affecting epigenetic regulators (DNMT3A and EZH2) or transcription factors (RUNX1).