Ekinci F, Soyaltin U E, Kutbay Y B, Yaşar H Y, Demirci Yıldırım T, Akar H
Tepecik Training and Research Hospital - Dept. of Internal Medicine, Izmir, Turkey.
Tepecik Training and Research Hospital - Dept. of Genetics, Izmir, Turkey.
Acta Endocrinol (Buchar). 2017 Apr-Jun;13(2):150-153. doi: 10.4183/aeb.2017.150.
Adrenal incidentaloma are lesions which are stated incidentally by imaging methods when there is no suspicion of any disease in adrenal gland. Inappropriate Jak2 signaling causes some solid and hematological malignancies. But the Jak2 mutation has not been previously evaluated with regard to adrenal tumors. In this study, we aimed to positivity of the Jak2 mutation in patients with non functioning adrenal incidentaloma (NFAI).
45 (38 female-7 male) patients, who were followed due to NFAI at Tepecik Training and Research Hospital, Department of Endocrinology and Internal Medicine between February 2014 and March 2015, and 45 (31 female-14 male) healthy controls were included in the study.
The average age was 54.02±11.7 years and 38 patients were female, 7 were men. All patients underwent the following analyses for excluding a functioning adrenal mass, overnight dexamethasone suppression test, 24 hour urinary metanephrine and normetanephrine, plasma aldosterone/ renin activity ratio. Jak2 mutation of the patients who were diagnosed as NFAI was all negative.
We could not identify the JAK2 gene mutation positivity in any sample. Since other possible mechanisms may throw fresh light on the etiology of adrenal incidentaloma, further clinical studies are needed on this subject.
肾上腺偶发瘤是在肾上腺无任何疾病怀疑时通过影像学方法偶然发现的病变。不适当的Jak2信号传导会导致一些实体和血液系统恶性肿瘤。但Jak2突变此前尚未在肾上腺肿瘤方面进行评估。在本研究中，我们旨在检测无功能肾上腺偶发瘤（NFAI）患者中Jak2突变的阳性情况。
2014年2月至2015年3月期间在Tepecik培训与研究医院内分泌与内科因NFAI接受随访的45例患者（38例女性，7例男性）以及45例健康对照者（31例女性，14例男性）被纳入研究。
平均年龄为54.02±11.7岁，38例患者为女性，7例为男性。所有患者均接受了以下检查以排除功能性肾上腺肿块：过夜地塞米松抑制试验、24小时尿间甲肾上腺素和去甲间肾上腺素、血浆醛固酮/肾素活性比值。被诊断为NFAI的患者的Jak2突变均为阴性。
我们在任何样本中均未发现JAK2基因突变阳性。由于其他可能的机制可能为肾上腺偶发瘤的病因提供新线索，因此需要对该主题进行进一步的临床研究。
