Chair and Department of Endocrinology, Jagiellonian University Medical College, Kraków, Poland.
Department of Endocrinology, Endocrine Oncology and Nuclear Medicine, University Hospital in Kraków, Kraków, Poland.
Front Endocrinol (Lausanne). 2023 Feb 10;14:1098367. doi: 10.3389/fendo.2023.1098367. eCollection 2023.
Up to 5% of all pituitary tumors are hereditary due to or aryl hydrocarbon receptor-interacting protein () genes mutations.
The study was aimed at the assessment of the frequency and characteristics of -mutation related tumors in patients with apparently sporadic pituitary macroadenomas in the Polish population.
The study included 131 patients (57 males, 74 females; median age 42 years) diagnosed with pituitary macroadenomas, and with a negative family history of familial isolated pituitary adenoma (FIPA) or multiple endocrine neoplasia type 1 (MEN1) syndromes. Sanger sequencing was used for the assessment of gene variants. The study was approved by the Ethics Board of JUMC.
variants were identified in five of the 131 included subjects (3.8%): one diagnosed with Cushing's disease, two with acromegaly, and two with non-secreting adenomas. Patients harboring hereditary gene alterations did not differ from the rest of the study group in median age at diagnosis (41.0 vs. 42.5 years, P=0.8), median largest tumor diameter (25 vs. 24 mm, P=0.6), gender distribution (60.0% vs. 56.3% females, P=0.8), secreting tumor frequency (60.0% vs. 67.5%, P=0.7), or acromegaly diagnosis frequency (40.0% vs.37.3%, P=0.9).
In our series of apparently sporadic pituitary macroadenomas, gene variant carriers did not differ substantially from patients with negative genetic testing. A risk factor-centred approach to genetic screening may result in missing germline variants. Considering the clinical impact of such genetic variants and their relatively low penetrance, it is, however, doubtful if general genetic screening benefits the whole cohort of pituitary macroadenoma patients and their families.
多达 5%的垂体肿瘤是遗传性的，这是由于 或芳香烃受体相互作用蛋白 () 基因突变引起的。
本研究旨在评估波兰人群中明显散发的垂体大腺瘤患者中 -突变相关肿瘤的频率和特征。
该研究纳入了 131 例（57 名男性，74 名女性；中位年龄 42 岁）诊断为垂体大腺瘤且家族史阴性的患者，无家族性孤立性垂体腺瘤（FIPA）或多发性内分泌肿瘤 1 型（MEN1）综合征。使用 Sanger 测序评估 基因变异。该研究获得了 JUMC 伦理委员会的批准。
在 131 名纳入的受试者中，有 5 名（3.8%）发现了 基因变异：1 名患有库欣病，2 名患有肢端肥大症，2 名患有无分泌性腺瘤。携带遗传性 基因突变的患者在诊断时的中位年龄（41.0 岁 vs. 42.5 岁，P=0.8）、最大肿瘤直径的中位数（25 毫米 vs. 24 毫米，P=0.6）、性别分布（60.0% vs. 56.3% 女性，P=0.8）、分泌性肿瘤的频率（60.0% vs. 67.5%，P=0.7）或肢端肥大症的诊断频率（40.0% vs. 37.3%，P=0.9）方面与其余研究组无显著差异。
在我们的一系列明显散发的垂体大腺瘤中， 基因突变携带者与基因检测阴性的患者没有明显区别。以风险因素为中心的 基因筛查方法可能会遗漏种系变异。考虑到这种遗传变异的临床影响及其相对较低的外显率，是否对整个垂体大腺瘤患者及其家属进行常规遗传筛查还有待商榷。
