Medical SpecialtyOpen Access

The relationship between load of JAK-2 mutation and prognostic factors in philadelphia chromosome negative myeloproliferative neoplasms

2015
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Advisor: Doç. Dr. Mustafa Yılmaz

Abstract (EN)

The relationship between load of JAK-2 mutation and prognostic factors in philadelphia chromosome negative myeloproliferative neoplasms Objective: The determine Janus Kinase (JAK-2 V617F) gene mutations; understanding of the mechanisms associated with Philadelphia chromosome negative myeloproliferative disease pathogenesis, devoloping of diagnostic methods and creating treatment alternatives. In studies; they touch on relationship with JAK-2 V617F gene mutation load and age at diagnosis, thrombosis history, leukocytosis, some symptoms and signs such as itching and organomegaly at Philadelphia chromosome negative myeloproliferative disease. In our study, we investigated the relationship of JAK-2 V617F gene mutation load with clinical, laboratory and prognostic factor at patients with Philadelphia chromosome negative myeloproliferative disorders ;primary myelofibrosis, essential thrombocythemia and polycythemia vera patients. Philadelphia chromosome negative myeloproliferative disease treatment plans would made based on the patient's risk group.the determining of relationship with JAK-2 V617F gene mutation load and disease risk group may allow the selection of optimal treatment for patients. Materials and methods :We took 99 patients as 63 essential thrombocythemia, 30 polycythemia vera and 6 primary myelofibrosis diagnosed patients at Karadeniz Teknik Univercity Faculty of Medicine Hematology department's polyclinic patients between January 2011 and February 2015 according to the 2008 WHO diagnostic criteria. JAK-2 V617F mutation analysis of all patients peripheral blood granulocytes were tested with "LightCycler FastStart DNA Master Hybridization Probe" (Roche Diagnostics ready to use the reaction mixture, Berlin, Germany), and performed with Real Time (RT) - PCR (real-time polymerase chain reaction) method. Findings: We found positive correlation between JAK-2 V617F gene mutation and leukocytes, neutrophils, basophils counts at ET patients ( in order of p = 0.003; 0.004; 0.037).And we found a negative correlation between JAK-2 V617F gene mutation load and lymphocytes counts at complete blood count (p=0,004). We found negative correlation between JAK-2 V617F gene mutations load JAK-2 V617F and monocytes counts at complete blood count at PMF patients (p = 0.020). Result JAK-2 V617F mutation screening, has taken its place as a standard test for the diagnosis of Philadelphia chromosome negative myeloproliferative disease and creates a potential target for treatment. Key Words: myeloproliferative diseases, JAK-2 V617F gene mutation load, prognostic factors

Author

Nuh Kaya

How to Cite

Nuh Kaya (Medical Specialty Thesis). The relationship between load of JAK-2 mutation and prognostic factors in philadelphia chromosome negative myeloproliferative neoplasms, 2015, Karadeniz Technical University.

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