Zhang Ao-Bo, Zhang Jian-Yun, Xue Jiang, Wu Zhen-Chao, Xu Zhi-Xiu, Sun Li-Sha, Li Tie-Jun
Department of Oral Pathology, Peking University School and Hospital of Stomatology and National Center of Stomatology and National Clinical Research Center for Oral Diseases & National Engineering Research Center of Oral Biomaterials and Digital Medical Devices, Beijing, China.
Research Unit of Precision Pathologic Diagnosis in Tumors of the Oral and Maxillofacial Regions, Chinese Academy of Medical Sciences (2019RU034), Beijing, China.
Front Genet. 2024 Jul 29;15:1377716. doi: 10.3389/fgene.2024.1377716. eCollection 2024.
There is inconsistent evidence regarding the accuracy of mutations identification for the diagnosis of FD/MAS. This study was performed to estimate the prevalence and diagnostic accuracy of mutations detection and to preliminarily investigate the genotype-phenotype correlation in FD patients.
Five electronic databases were searched from 1995 to 2024 using search terms related to and fibrous dysplasia. Observational studies of FD patients undergoing mutation detection in FD were included.
A total of 878 FD patients were included. The pooled prevalence of 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 mutation types were significantly associated with FD types (OR = 3.51, 95% CI = 1.05 to 11.72; < 0.05).
A high detection rate of mutations occurred in FD, and its detection is reliable for diagnosing FD. Additionally, mutation type was types were significantly associated with FD type.
Identifier CRD42024553469.
关于用于诊断FD/MAS的突变鉴定准确性，证据并不一致。本研究旨在评估突变检测的患病率和诊断准确性，并初步探讨FD患者的基因型与表型的相关性。
使用与纤维发育不良相关的检索词，检索了1995年至2024年的五个电子数据库。纳入了对FD患者进行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，FD中突变的合并患病率为74%（95%CI=64%-83%）。在诊断准确性方面，灵敏度为0.83（95%CI，0.65-0.96），特异度为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检验显示突变类型与FD类型显著相关（OR=3.51，95%CI=1.05至11.72；P<0.05）。
FD中突变的检测率较高，其检测对FD的诊断可靠。此外，突变类型与FD类型显著相关。
标识符CRD42024553469。
