Bas C J Majoor1, Michiel A J van de Sande1, Natasha M Appelman-Dijkstra1, Andreas Leithner2, Paul C Jutte3, Roberto Vélez4, Tamás Perlaky5, Eric L Staals6, Judith V M G Bovée1, Neveen A T Hamdy1, Sander P D Dijkstra1. 1. Department of Orthopaedic Surgery (B.C.J.M., M.A.J.v.d.S., and S.P.D.D.), Endocrinology Division, Department of Medicine (N.M.A.-D. and N.A.T.H.), and Department of Pathology (J.V.M.G.B.), Leiden University Medical Center, Leiden, the Netherlands. 2. Department of Orthopaedic Surgery, Medical University of Graz, Graz, Austria. 3. Department of Orthopaedic Surgery, University Medical Center Groningen, Groningen, the Netherlands. 4. Department of Orthopaedic Surgery, Hospital Universitario Vall d'Hebron and Vall d'Hebron Institut de Recerca, Barcelona, Spain. 5. Department of Orthopaedic Surgery, Semmelweis University of Budapest, Budapest, Hungary. 6. Department of Orthopaedic Surgery, Orthopaedic Institute Rizzoli, Bologna, Italy.
Abstract
BACKGROUND: Mazabraud syndrome is a rare disorder, characterized by the presence of fibrous dysplasia (FD) with associated intramuscular myxomas. Data are scarce on the prevalence, clinical features, and natural history of this disorder and outcomes. In this multicenter study, we evaluated a series of patients from 6 European centers. METHODS: All centers affiliated with the European Musculo-Skeletal Oncology Society (EMSOS) were invited to include data on all patients with Mazabraud syndrome who were seen between 1980 and 2015. The study investigated the prevalence of Mazabraud syndrome, the type, severity, and localization of FD lesions in relation to myxomas, the histopathology of myxomas, and results of GNAS-mutation analysis, when available. RESULTS: Thirty-two patients (22 female) from 6 centers were included. The prevalence of Mazabraud syndrome was 2.2% in the combined cohort of 1,446 patients with FD, and the syndrome was diagnosed at a mean of 10.1 years after diagnosis of FD. The myxomas were predominantly localized in the upper leg. Excision was performed in 20 patients, recurrence occurred in 6 of these patients (30%) at a median of 8.5 years (range, 1.9 to 16.0 years), and revision surgery was necessary in 5 (25%). High cellularity of myxomas was associated with recurrence (p < 0.05). A GNAS mutation was identified in the myxoma tissue of 5 (83%) of 6 patients with GNAS-mutation analysis. CONCLUSIONS: This study is the first, to our knowledge, to provide data on the prevalence of Mazabraud syndrome in a relatively large cohort. Although the outcomes of surgical resection were good, a quarter of the patients required revision surgery despite clear resection margins. High cellularity of myxomas was associated with recurrence. GNAS mutations were identified in 83% (5 of 6), emphasizing the shared origin of FD and myxomas. Our data show that patients with FD who have disproportionate complaints, irrespective of FD type, extent, or severity, should be investigated for the possible presence of myxomas. LEVEL OF EVIDENCE: Prognostic Level IV. See Instructions for Authors for a complete description of levels of evidence.
BACKGROUND:Mazabraud syndrome is a rare disorder, characterized by the presence of fibrous dysplasia (FD) with associated intramuscular myxomas. Data are scarce on the prevalence, clinical features, and natural history of this disorder and outcomes. In this multicenter study, we evaluated a series of patients from 6 European centers. METHODS: All centers affiliated with the European Musculo-Skeletal Oncology Society (EMSOS) were invited to include data on all patients with Mazabraud syndrome who were seen between 1980 and 2015. The study investigated the prevalence of Mazabraud syndrome, the type, severity, and localization of FD lesions in relation to myxomas, the histopathology of myxomas, and results of GNAS-mutation analysis, when available. RESULTS: Thirty-two patients (22 female) from 6 centers were included. The prevalence of Mazabraud syndrome was 2.2% in the combined cohort of 1,446 patients with FD, and the syndrome was diagnosed at a mean of 10.1 years after diagnosis of FD. The myxomas were predominantly localized in the upper leg. Excision was performed in 20 patients, recurrence occurred in 6 of these patients (30%) at a median of 8.5 years (range, 1.9 to 16.0 years), and revision surgery was necessary in 5 (25%). High cellularity of myxomas was associated with recurrence (p < 0.05). A GNAS mutation was identified in the myxoma tissue of 5 (83%) of 6 patients with GNAS-mutation analysis. CONCLUSIONS: This study is the first, to our knowledge, to provide data on the prevalence of Mazabraud syndrome in a relatively large cohort. Although the outcomes of surgical resection were good, a quarter of the patients required revision surgery despite clear resection margins. High cellularity of myxomas was associated with recurrence. GNAS mutations were identified in 83% (5 of 6), emphasizing the shared origin of FD and myxomas. Our data show that patients with FD who have disproportionate complaints, irrespective of FD type, extent, or severity, should be investigated for the possible presence of myxomas. LEVEL OF EVIDENCE: Prognostic Level IV. See Instructions for Authors for a complete description of levels of evidence.
Authors: M Hagelstein-Rotman; M E Meier; B C J Majoor; A H G Cleven; P D S Dijkstra; N A T Hamdy; M A J van de Sande; O M Dekkers; N M Appelman-Dijkstra Journal: Calcif Tissue Int Date: 2020-11-23 Impact factor: 4.333