■关于诊断FD/MAS的GNAS突变鉴定的准确性存在不一致的证据。本研究旨在评估GNAS突变检测的患病率和诊断准确性,并初步研究FD患者的基因型-表型相关性。
■从1995年到2024年,使用与GNAS和纤维发育不良相关的搜索词搜索了五个电子数据库。纳入对FD患者进行GNAS突变检测的观察性研究。
■共纳入878例FD患者。基于随机效应模型的FD中GNAS突变的合并患病率为74%(95%CI=64%-83%)。关于诊断准确性,灵敏度为0.83(95%CI,0.65-0.96),特异性为0.99(95%CI,0.98-1.00),受试者工作特征曲线下面积为98.38%。此外,荟萃分析和Fisher检验显示GNAS突变类型与FD类型显著相关(OR=3.51,95%CI=1.05~11.72,p<0.05)。
■在FD中发生了高检出率的GNAS突变,它的检测对于诊断FD是可靠的。此外,GNAS突变类型与FD类型显著相关。
■标识符CRD42024553469。
UNASSIGNED: There is inconsistent evidence regarding the accuracy of
GNAS mutations identification for the diagnosis of FD/MAS. This study was performed to estimate the prevalence and diagnostic accuracy of
GNAS mutations detection and to preliminarily investigate the genotype-phenotype correlation in FD patients.
UNASSIGNED: Five electronic databases were searched from 1995 to 2024 using search terms related to GNAS and fibrous dysplasia. Observational studies of FD patients undergoing
GNAS mutation detection in FD were included.
UNASSIGNED: A total of 878 FD patients were included. The pooled prevalence of
GNAS mutations in FD based on the random effects model was 74% (95% CI = 64%-83%). Regarding diagnostic accuracy, a sensitivity of 0.83 (95% CI, 0.65-0.96), specificity of 0.99 (95% CI, 0.98-1.00) and the area under the receiver operating characteristic curve of 98.38% were found. Additionally, meta-analysis and Fisher\'s test showed the GNAS mutation types were significantly associated with FD types (OR = 3.51, 95% CI = 1.05 to 11.72; p < 0.05).
UNASSIGNED: A high detection rate of GNAS mutations occurred in FD, and its detection is reliable for diagnosing FD. Additionally,
GNAS mutation type was types were significantly associated with FD type.
UNASSIGNED: Identifier CRD42024553469.