Institute of Pathology, University of Erlangen-Nüremberg, Krankenhausstr. 8-10, 91054, Erlangen, Germany.
Institute of Pathology, University Medicine Heidelberg, Im Neuenheimer Feld 224, 69120, Heidelberg, Germany.
Virchows Arch. 2019 Jan;474(1):71-78. doi: 10.1007/s00428-018-2480-4. Epub 2018 Nov 7.
Quality control of BRAF mutation testing methods used in routine practice is crucial for optimal treatment selection. In this prospective study, we assessed the impact of patient/sample characteristics on BRAF mutation testing results in patients with melanoma, during clinical practice. Data were collected on routine testing practices and documented mutation status in patients with melanoma stages IIIB, IIIC, or IV across 28 diagnostic pathology centers in Germany. Patient/sample data collected included: patient age, location of primary melanoma and metastases, origin of sample, melanoma subtype, and quality of tissue. Statistical influence of patient/sample characteristics on BRAF mutation rate was assessed using multiple logistic regression analyses and statistical models developed to predict the probability of BRAF mutations for individual patient cohorts. Data/samples from 642 patients with melanoma were analyzed. BRAF mutations were documented in 241/642 patients (37.5%). The primary statistical model to predict BRAF mutation rates included: age (continuous), origin of sample, method of mutation analysis, and quality of tissue. Analyses of post hoc collected data identified major deviations between documented mutation rates included in this study vs. routinely recorded mutation rates for three centers. When samples from these centers were excluded, the influence of testing method was no longer statistically significant. The final model included patient age, origin of sample (including metastasis location), and quality of tissue. Once validated in an independent population, this type of model could allow pathology centers to compare the performance of their testing methods with what would be expected based on patient, tumor, and sample characteristics.
在常规实践中,BRAF 突变检测方法的质量控制对于最佳治疗选择至关重要。在这项前瞻性研究中,我们评估了患者/样本特征对黑色素瘤患者临床实践中 BRAF 突变检测结果的影响。在德国 28 个诊断病理学中心收集了关于常规检测实践的数据,并记录了黑色素瘤 IIIB、IIIC 或 IV 期患者的突变状态。收集的患者/样本数据包括:患者年龄、原发黑色素瘤和转移部位、样本来源、黑色素瘤亚型和组织质量。使用多因素逻辑回归分析和统计模型评估患者/样本特征对 BRAF 突变率的统计学影响,这些模型用于预测个体患者队列中 BRAF 突变的概率。分析了来自 642 例黑色素瘤患者的数据。在 642 例患者中有 241 例(37.5%)记录到 BRAF 突变。用于预测 BRAF 突变率的主要统计模型包括:年龄(连续)、样本来源、突变分析方法和组织质量。对事后收集的数据的分析发现,与本研究中记录的突变率相比,包括三个中心在内的三个中心的突变率存在重大偏差。当排除这些中心的样本时,检测方法的影响不再具有统计学意义。最终模型包括患者年龄、样本来源(包括转移部位)和组织质量。一旦在独立人群中得到验证,这种类型的模型可以使病理中心将其检测方法的性能与基于患者、肿瘤和样本特征的预期性能进行比较。