Evaluation of clinical and laboratory findings with JAK2 V617F mutation as an independent variable in essential thrombocytosis

• Published in: Molecular biology reports Vol. 41; no. 10; pp. 6737 - 6742
• Main Authors: Cetin, Güven, Ozkan, Tuba, Turgut, Seda, Ali Cikrikcioglu, M, Cem Ar, M, Ayer, Mesut, Unlu, Ayhan, Celik, Sevda Rabia, Sekin, Yahya, Karatoprak, Cumali
• Format: Journal Article
• Language: English
• Published: Dordrecht Springer-Verlag 01-10-2014; Springer Netherlands; Springer Nature B.V
• Subjects: Adult; Aged; Aged, 80 and over; Alleles; Animal Anatomy; Animal Biochemistry; biomarkers; Biomedical and Life Sciences; Clinical trials; Codon; Comorbidity; creatinine; erythrocytes; Female; Genetic Association Studies; hematocrit; Hematology; hemoglobin; Histology; hospitals; Humans; hyperplasia; Janus Kinase 2 - genetics; leukocytes; Life Sciences; Male; Middle Aged; Morphology; Mutation; neoplasms; patients; point mutation; risk; thrombocytes; thrombocythemia; Thrombocythemia, Essential - diagnosis; Thrombocythemia, Essential - epidemiology; Thrombocythemia, Essential - genetics; Thrombosis; tyrosine; urea; Young Adult; Essential thrombocythemia; Vascular complications; JAK2 V617F; Hematologic markers; Biochemical markers
• ISSN: 0301-4851; 1573-4978
• DOI: 10.1007/s11033-014-3559-x

Essential thrombocythemia (ET) is an entity of classic Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs), characterized by thrombocytosis with megakaryocytic hyperplasia and thrombocytes are increased with abnormal functions. Discovery of the protein tyrosine kinase JAK2 V617F allele contributed to better understanding of the pathogenetic mechanisms of MPNs. Acquired single point mutation in the JAK2 V617F was determined approximately 50–60 % of patients with ET. In this study we aimed to investigate the relationship between JAK2 V617F gene mutation, hematologic, biochemical markers and the complications in the ET patients. A total of 268 patients diagnosed with ET and 219 of those studied for JAK2 gene mutation were followed at the hematology clinics of three major hospitals between 2008 and 2013 were screened retrospectively. Laboratory, clinical and hematologic parameters were compared for JAK2 V617F positive and JAK2 V617F negative patients with ET. 102 (46 %) patients were positive with the JAK2 V617F mutation. The complications were observed in 61 (28 %) patients and 38 (62 %) of them had JAK2 V617F mutation. The levels of white blood cells, neutrophil, basophil, red blood cells, hemoglobin, hematocrit, mean platelet volume, thrombocytes, eosinophil; urea, creatinine were significantly different in patients with the JAK2 V617F mutation (P < 0.05). Presence of the JAK2 V617F mutation supports the diagnosis of ET. It would be useful to investigate the JAK2 V617F mutation and the hematologic and biochemical markers at diagnosis with respect to consider the risk of developing complications and to take the precautions against these complications.