Department of Surgery and Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA.
Department of Medicine, Division of Endocrinology, Stanford University School of Medicine, Stanford, CA.
Surgery. 2021 Feb;169(2):298-301. doi: 10.1016/j.surg.2020.08.027. Epub 2020 Oct 3.
Genetic testing for germline pheochromocytoma and paraganglioma susceptibility genes is associated with improved patient management. However, data are currently sparse on the probability of a positive testing result based on an individual's clinical presentation. This study evaluates clinical characteristics for association with testing positive for known pheochromocytoma and paraganglioma susceptibility genes.
This retrospective analysis examined 111 patients with a diagnosis of pheochromocytoma and paraganglioma who underwent genetic testing. Logistic regression and receiver operating characteristic analyses were performed to identify factors associated with a positive genetic testing result. Probabilities were then calculated for combinations of significant factors to determine the likelihood of a positive test result in each group.
Of 32 patients with a family history of pheochromocytoma and paraganglioma, 31 (97%) had a germline mutation detected. Of 79 patients without a family history, 24 (30%) had a pathogenic germline mutation detected. In multivariate analysis, a positive family history, aged ≤47 years, and tumor size ≤2.9 cm were independent factors associated with a positive genetic testing result. Patients meeting all 3 criteria had a 100% probability compared with 13% in those without any of the criteria. In addition to a positive family history, having either aged ≤47 years or tumor size ≤2.9 cm resulted in a 90% and 100% probability of a positive result, respectively. In the absence of a family history, the probability in patients who were aged ≤47 years and had a tumor size ≤2.9 cm was 60%.
In addition to a family history of pheochromocytoma and paraganglioma, aged ≤47 years, and tumor size ≤2.9 cm are associated with a higher probability of testing positive for a pheochromocytoma and paraganglioma susceptibility gene mutation. Patients meeting all 3 criteria have a 100% probability of a positive genetic testing result.
检测胚系嗜铬细胞瘤和副神经节瘤易感性基因与改善患者管理相关。然而，目前基于个体临床表现，阳性检测结果的概率数据仍然很少。本研究评估了与已知嗜铬细胞瘤和副神经节瘤易感性基因检测阳性相关的临床特征。
本回顾性分析检查了 111 例诊断为嗜铬细胞瘤和副神经节瘤的患者，他们接受了基因检测。进行了逻辑回归和接收者操作特征分析，以确定与阳性基因检测结果相关的因素。然后计算了显著因素组合的概率，以确定每组阳性检测结果的可能性。
32 例有嗜铬细胞瘤和副神经节瘤家族史的患者中，31 例（97%）检测到胚系突变。79 例无家族史的患者中，24 例（30%）检测到致病性胚系突变。多变量分析显示，阳性家族史、年龄≤47 岁和肿瘤大小≤2.9cm 是与阳性基因检测结果相关的独立因素。符合所有 3 项标准的患者的阳性检测结果概率为 100%，而不符合任何一项标准的患者为 13%。除了阳性家族史外，年龄≤47 岁或肿瘤大小≤2.9cm 分别导致阳性结果的概率为 90%和 100%。在没有家族史的情况下，年龄≤47 岁且肿瘤大小≤2.9cm 的患者阳性结果的概率为 60%。
除了嗜铬细胞瘤和副神经节瘤家族史外，年龄≤47 岁和肿瘤大小≤2.9cm 与检测到嗜铬细胞瘤和副神经节瘤易感性基因突变的可能性更高相关。符合所有 3 项标准的患者阳性基因检测结果的概率为 100%。
