ECTS2013 Poster Presentations Clinical case posters (12 abstracts)
Diagnosis of fibrous dysplasia with DNA tests
Ioannis Stathopoulos 1, , Alexia Balanika 3 , Christos Baltas 4 , Kalliopi Lampropoulou-Adamidou 1, , Theodora Koromila 5 , Panagoula Kollia 5 , Symeon Tournis 1 , Nikolaos Papaioannou 1 & Aikaterini Katsalira 1
1Laboratory for the Research of the Musculoskeletal System ‘Theodoros Garofalidis’, KAT Hospital, University of Athens, Athens, Greece; 2Third Orthopaedic Department, KAT Hospital, University of Athens, Athens, Greece; 3Computed Tomography Department, General Hospital ‘Asklepieio Voulas’, Athens, Greece; 4Radiology Imaging Department, General Hospital of Athens ‘G. Gennimatas’, Athens, Greece; 5Laboratory of Human Genetics, Department of Genetics and Biotechnology, Faculty of Biology, University of Athens, Athens, Greece.
Introduction: Fibrous dysplasia (FD) of bone is a benign, non-inheritable disease characterized by bone pain, bone deformities and fractures. Its prevalence is ~1 in 30 000 individuals and diagnosis is based on the clinical and radiologic findings and is confirmed by biopsy. Yet, in some cases biopsy is not applicable.
Case report: A young woman presented to our outpatient clinic with a history of pain localized at the distal half of the left tibia that had begun 8 years ago and appeared occasionally thereafter. The patient was otherwise healthy. Based on the clinical and imaging findings the predominant diagnosis was that of polyostotic FD. The patient denied a confirmatory bone biopsy, so genomic analysis offered an alternative approach, since FD has a demonstrated association with somatic mutations at codon 201 of the α subunit of G protein (Gsα), encoded by the GNAS gene.
Results: The R201C mutation was detected which was confirmatory for the diagnosis of FD.
Conclusion: Genomic analysis using peripheral blood samples can be used for the confirmation of the clinical and radiologic diagnosis of FD in selected patients in whom biopsy is not applicable.
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Bone Abstracts
ISSN 2052-1219 (online)
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