Researchers at Children’s Hospital of Philadelphia (CHOP) have published a study in The Journal of Craniofacial Surgery focusing on the diagnosis of fibrous dysplasia (FD), a rare bone disorder characterized by abnormal bone growth. Craniofacial FD can result in facial disfigurement, vision loss, jaw complications, and pain.
The current standard for diagnosing FD includes clinical evaluation, imaging studies, and genetic testing. However, there are challenges with false negatives because FD may only appear in certain cell types.
In their review of six cases at CHOP, the research team led by Eric Liao, MD, PhD, observed varied results from CT scans and tissue analyses. They performed targeted genetic tests on the GNAS gene—mutations in which are known to cause FD—in tissue from affected areas. All patients showed similar GNAS mutations.
With consent from participants, researchers also collected cells directly from the affected tissues to establish patient-derived cell lines in the laboratory. Genetic analysis of these cultured cells confirmed they carried the same GNAS mutations found in original tissue samples.
According to the study authors: “Together, these findings highlight the complex biology of FD and suggest culturing cells for molecular testing could aid in more precise diagnoses and research.”
The publication underscores that combining traditional diagnostic methods with advanced molecular testing using lab-grown cells may help improve accuracy when diagnosing fibrous dysplasia.
