Relationship between JAK2 V617F mutation and adrenal incidentaloma
2012
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Advisor: Prof. Dr. Engin Güney
Abstract (EN)
Objective: With the common use of imaging methods, the occurence of so called inciden-talomas; clinically silent adrenal masses; have been increased. There are studies that have been conducted in order to ascertain the etiopathogenesis. However, the exact reasons as not been established. Proofs of irregular JAK signalization are present in various cancer types. Inappropriate JAK signalization leads to the survival of various solid tumors and cell proliferation. In our study, our aim was to investigate the JAK2 mutation that was not hit-herto assessed in the etiology of adrenal incidentalomas. Material Methods: Fifty-nine patients with adrenal incidentaloma who had the appropriate diagnosis at Medical Faculty of Adnan Menderes University's Endocrinology and Metabo-lic Disorders Department and had a complete hormonal assay and signed the informed con-sent were enrolled in this study. A matching number of otherwise healthy individuals within the same age group who had an abdominal CT for non adrenal related reasons were enrolled as the control group. JAK2 gene was amplified by PCR. JAK 2 V617F mutation were studied by RFLP method. Results: Fifty-nine patients (19 males, 40 females) with adrenal incidentaloma and thirty-five healthy volunteers (11 males, 24 females) were enrolled this study. Mean age was 58.8312.56 years in patients with adrenal incidentaloma and 56.068.82 years in the control group (p>0.05). JAK2 V617F mutation was positive in 3 patients (5.1 %) with adrenal inci-dentaloma. JAK2 V617F mutation were negative in all of the healthy control group. But, there was no significant difference between JAK2 V617F mutation positivity of patients with adrenal incidentaloma compared to control group (p>0.05). Conclusions: In this research, JAK-2 gene mutation in adrenal insidentoma patients is detect-ed as possitive at the ratio of 5.1%. This ratio is above the estimated general population ratio. These results indicates us, it may be usefull, if 'the effects of JAK-2 gene mutation in adrenal insidentoma patients' have been researched with more many case series. Keywords: Adrenal incidentaloma, JAK 2 mutation, polymerase chain reaction
Author
Dr. Mustafa Ünübol
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Mustafa Ünübol (Medical Sub-Specialty Thesis). Relationship between JAK2 V617F mutation and adrenal incidentaloma, 2012, Adnan Menderes University.
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