The prevalence, diagnostic accuracy and genotype-phenotype correlation of mutations in fibrous dysplasia: a meta-analysis.

Background: 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.

Methods: 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.

Results: 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).

Conclusion: 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.

Systematic Review Registration: Identifier CRD42024553469.