Department of Nuclear Medicine, National Taiwan University Hospital, Taipei, Taiwan.
Institute of Epidemiology and Preventive Medicine, College of Public Health, National Taiwan University, Taipei, Taiwan.
Front Endocrinol (Lausanne). 2021 Apr 28;12:644927. doi: 10.3389/fendo.2021.644927. eCollection 2021.
Somatic mutation occurs in half of unilateral primary aldosteronism (PA) and is associated with more severe phenotype. Mutation status can only be identified by tissue sample from adrenalectomy. NP-59 adrenal scintigraphy is a noninvasive functional study for disease activity assessment. This study aimed to evaluate the predictive value of NP-59 adrenal scintigraphy in somatic mutation among PA patients who received adrenalectomy.
Sixty-two PA patients who had NP-59 adrenal scintigraphy before adrenalectomy with available mutation status were included. Two semiquantitative parameters, adrenal to liver ratio (ALR) and lesion to contralateral ratio of bilateral adrenal glands (CON) derived from NP-59 adrenal scintigraphy, of mutated and wild-type patients were compared. Cutoff values calculated by receiver-operating characteristic (ROC) analysis were used as a predictor of mutation.
Twenty patients had mutation and 42 patients were wild type. Patients harboring mutation had both higher ALR and CON (p = 0.0031 and 0.0833, respectively) than wild-type patients. With ALR and CON cutoff of 2.10 and 1.95, the sensitivity and specificity to predict mutation were 85%, 57% and 45%, 93%, respectively. Among 20 patients with mutation, 16 showed G151R point mutation (- G151R) and 4 showed L168R point mutation (-L168R), which former one had significantly lower ALR (p=0.0471).
PA patients harboring somatic mutation had significantly higher NP-59 uptake regarding to ALR and CON than those without mutation. APAs with L168R point mutation showed significantly higher ALR than those with -G151R point mutation.
单侧原发性醛固酮增多症（PA）中有一半发生体细胞突变，且与更严重的表型相关。只有通过肾上腺切除术的组织样本才能确定突变状态。NP-59 肾上腺闪烁扫描是一种用于评估疾病活动的非侵入性功能研究。本研究旨在评估 NP-59 肾上腺闪烁扫描在接受肾上腺切除术的 PA 患者体细胞突变中的预测价值。
共纳入 62 例在肾上腺切除术前行 NP-59 肾上腺闪烁扫描且有可用突变状态的 PA 患者。比较突变型和野生型患者的两个半定量参数，即来自 NP-59 肾上腺闪烁扫描的肾上腺与肝脏比值（ALR）和双侧肾上腺病变与对侧比值（CON）。通过接受者操作特征（ROC）分析计算的临界值用作突变的预测因子。
20 例患者存在突变，42 例患者为野生型。携带突变的患者的 ALR 和 CON 均较高（p=0.0031 和 0.0833）。当 ALR 和 CON 的截断值分别为 2.10 和 1.95 时，预测突变的灵敏度和特异性分别为 85%、57%和 45%、93%。在 20 例突变患者中，16 例显示 G151R 点突变（-G151R），4 例显示 L168R 点突变（-L168R），前者的 ALR 显著较低（p=0.0471）。
与无突变的患者相比，携带体细胞突变的 PA 患者的 ALR 和 CON 摄取明显更高。具有 L168R 点突变的 APA 的 ALR 明显高于具有 -G151R 点突变的 APA。
