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- Title
Investigation of the Incidence of CALR, MPL, and JAK2 Gene Mutations in Essential Thrombocytosis Cases with Laboratory Findings and Complications.
- Authors
ORBAY, Çağla; ÇETİN, Güven; UYANIK, Bülent
- Abstract
Introduction: Chronic myeloproliferative diseases are characterized by uncontrolled proliferation of clonal hematopoietic stem cells. One of the most common of these diseases is essential thrombocytosis. It is known that JAK2, CALR, and MPL gene mutations are the main causes of this disease. Our aim in this retrospective study was to investigate how effective these genes are in the diagnosis of essential thrombocytosis and its complications. Method: A total of 146 patients were included in the study. The study was designed retroprospectively. In this study, the diagnoses of the patients were made using the clinical and laboratory parameters. Genetic reports of the patients were reviewed, JAK2, MPL, and CALR gene positivity or negativity and hemorrhagia were noted. Results: Of the patients, 68.5% (n=100) were female and 31.5% (n=46) male aging from 19 to 90. No significant difference was found between the three mutation genes we examined gender, hepatomegaly, and hemorrhage. A significant difference was found between the absence of the JAK2 mutation gene and low hemoglobin and platelet counts over 1 million (p=0.012; p=0.05). Also the averag eage of those with mpl mutation was found to be significantly higher than that of those without this gene. Prefibrotic phase myelofibrosis transformation was noticed in 21 patients. Moreover, hypothyroidism was detected in 25 patients, and 52% of these patients were positive for the JAK2 gene. In our study, we observed that hemorrhage and bruising complications developed in 25 patients. Seven female patients had a miscarriage. Conclusion: The results of this study show that there is no co-relation between CALR, MPL, and clinical prognostic parameters. However, it has been shown that patients carrying the JAK2 gene are at a higher risk for complications, and we confirmed its diagnostic importance. Our results should be confirmed by further clinical studies.
- Subjects
MYELOFIBROSIS; GENETIC mutation; THROMBOCYTOSIS; HEMATOPOIETIC stem cells; PLATELET count
- Publication
Bezmialem Science, 2024, Vol 13, pS52
- ISSN
2148-2373
- Publication type
Abstract