Identification of GNAS Variants in Circulating Cell‐Free DNA from Patients with Fibrous Dysplasia/ McCune Albright Syndrome
Authors' conclusion
In summary, we have demonstrated that ccfDNA containing variant GNAS can be isolated from the plasma of patients with FD/MAS and that ddPCR and castPCR methods have similar variant detection rates.
Study context
- Population
- Patients with fibrous dysplasia/McCune-Albright syndrome (FD/MAS) with a wide range of disease severity
- Participants
- 66 patients
- Comparison
- ddPCR vs competitive allele-specific TaqMan PCR (castPCR) for detection of GNAS p.R201 variants in plasma circulating cell free DNA (ccfDNA)
- Outcome
- Detection of GNAS R201 variants in ccfDNA
Performance
As reported in the abstract
R201 variants detected by either castPCR or ddPCR
41 of 66
62.1%
R201 variants detected with techniques combined
45 of 66
68.2%
Further findings
Disease severity and variant detection
- Variant detection more likely with more severe disease
- Skeletal disease burden score (SBS) significantly higher in patients with detectable variants; SBS predicted variant allele frequency
Age ≤30 years (ddPCR)
- Patients aged ≤30 years had higher detection rates and higher variant allele frequencies, independent of disease burden
Monostotic FD
- Variant DNA detected in monostotic FD, by ddPCR only
- 1 patient
Original publication
Identification of GNAS Variants in Circulating Cell‐Free DNA from Patients with Fibrous Dysplasia/ McCune Albright Syndrome. J Bone Miner Res. Published 24 January 2023. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →