Neonatal polycythemia may be free of JAK2V617F mutation

Abstract

Objective: Polycythemia is known as increased erythrocytosis and is linked to the erythropoiesis cascade including erythropoietin, erythropoietin receptor and intracellular signaling proteins. The Janus kinase 2 (JAK2) is the key signal transducer in the erythropoiesis cascade. A function gain mutation (V617F) at JAK2 gene has been identified in polycythemia vera in adults. On the other hand, the molecular etiology of neonatal polycythemia has not been elucidated well. Thus, the aim of this randomized controlled study was to investigate the role of JAK2 V617F mutation in the etiology of neonatal polycythemia similar to polycythemia vera. Material and Methods: Fifty-one neonates diagnosed with polycythemia according to venous hematocrit level over 65% and 26 healthy neonates as the control group were enrolled in the study in addition to 43 adult patients diagnosed with polycythemia vera. JAK2 V617F mutation analysis was performed using Real-Time PCR system. Results: All the neonatal polycythemia patients were negative for the specific mutation JAK2 V617F, as well as 26 control neonates, whereas in 31 (72%) out of 43 adult polycythemia vera patients, JAK2 V617F mutation was present. Conclusion: This is the first report showing that JAK2-V617F mutation may be an acquired somatic mutation instead of congenital and neonatal polycythemia is not related to the disrupted erythropoiesis cascade. © 2013 by Türkiye Klinikleri.