Osteofibrous Dysplasia of the Tibia and Fibula

Campanacci, Mario; Laus, Melissa

doi:10.1097/01241398-198112000-00046

Cited by 20 publications

(38 citation statements)

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“…[1][2][3] Because of frequent overlapping of clinical, radiological and microscopic features, such lesions can be difficult to distinguish from each other 4 and also from lowgrade osteosarcomas, the malignant counterpart of fibro-osseous lesions of the bone. 5,6 However, it is important to differentiate between these lesions, because their clinical evolutions are different and involve different treatments.…”

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confidence: 99%

Diagnostic value of investigating GNAS mutations in fibro-osseous lesions: a retrospective study of 91 cases of fibrous dysplasia and 40 other fibro-osseous lesions

et al. 2013

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nucleotide-binding protein/a-subunit) mutations that induce the activation of G-protein a-subunit participate in the pathogenesis of fibrous dysplasia. The aim of this study was to evaluate the sensitivity and specificity of GNAS mutations in fibrous dysplasia and other fibro-osseous lesions, to assess the value of investigating this mutation in the diagnosis of fibro-osseous lesions. We studied 91 cases of fibrous dysplasia. The quality and/or quantity of genomic DNA were suitable for molecular analysis for 51 cases of fibrous dysplasia. GNAS mutations were investigated by three techniques: high-resolution melting (exon 8), allele-specific PCR (exons 8 and 9) and/or direct DNA sequencing (exons 8 and 9). Fibrous dysplasia samples were classified blind to the GNAS mutation status into six histological subtypes as conventional, fibro-involutive, osteosclerosing, cementifying, osteocartilaginous and with prominent aneurysmal cystic changes. We also studied 14 cases of lowgrade osteosarcoma, 21 cases of ossifying fibroma, 3 cases of osteofibrous dysplasia, 1 case of osseous dysplasia of the jawbone and 1 post-traumatic lesion of the ribs. Twenty-three cases of fibrous dysplasia (45%) showed mutations of codon 201 (exon 8, p.R201H or p.R201C). No mutation was found on codon 227 (exon 9). GNAS mutations in conventional fibrous dysplasia were detected in the same proportion (47%) as in the other histological subtypes (47%, P ¼ 0.96), regardless of sex (P ¼ 0.44), age (P ¼ 0.90) and location (P ¼ 1). GNAS mutations were not detected in any other fibro-osseous lesions. The GNAS mutation was thus specific to fibrous dysplasia in the context of fibro-osseous lesions. The particular mosaicism of mutant and non-mutant cells within the lesion or the existence of other mutations not already described could explain the lack of GNAS mutation in cases of fibrous dysplasia. Investigating this mutation may constitute a valuable complementary diagnostic tool, despite its low sensitivity, particularly in unconventional morphologically different subtypes of fibrous dysplasia. Modern Pathology (2013) 26, 911-921;

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Diagnostic value of investigating GNAS mutations in fibro-osseous lesions: a retrospective study of 91 cases of fibrous dysplasia and 40 other fibro-osseous lesions

et al. 2013

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“…Histologically, osteofibrous dysplasia is composed of loose bundles of fibroblast-like cells among which are found trabeculae of woven bone lined by plump osteoblasts. 3,22 There may be a zonal arrangement with progressive widening and increase in the number of mineralised bone trabeculae at the periphery of the lesion. As the trabeculae become more numerous, they fuse together and merge with the thickened cortical bone and there is centrifugal maturation of woven to lamellar bone.…”

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confidence: 99%

“…1,2 Osteofibrous dysplasia is a fibro-osseous proliferative lesion which, like adamantinoma of long bones, most commonly affects the tibia and fibula. 3 Osteofibrous dysplasia is most often a self-limited process and typically occurs during the first two decades of life. Adamantinoma of long bones most commonly affects patients 420 years but may develop at an earlier age.…”

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Analysis of stromal cells in osteofibrous dysplasia and adamantinoma of long bones

et al. 2012

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Adamantinoma of long bones and osteofibrous dysplasia are rare, osteolytic primary bone tumours of uncertain origin containing areas of fibrous and fibro-osseous proliferation. We investigated the nature of the stromal cells in adamantinoma of long bones and osteofibrous dysplasia, and determined cellular and molecular mechanisms of osteolysis in these tumours. Cell culture, molecular (RT-PCR, western blot) and immunohistochemical studies on cases of adamantinoma of long bones and of osteofibrous dysplasia were undertaken to determine the expression of epithelial, osteoblast and osteoclast markers. Ultrastructural and immunophenotypic studies on cultured adamantinoma and osteofibrous dysplasia stromal cells showed that these cells were mainly fibroblast-like with few cells expressing epithelial markers. Osteofibrous dysplasia but not adamantinoma cells expressed alkaline phosphatase. Both osteofibrous dysplasia and adamantinoma cells expressed the ostoclastogenic factors M-CSF and RANKL. Adamantinoma and osteofibrous dysplasia cells also expressed messenger RNA for osteocalcin, osteonectin, osteopontin, osterix and collagen type 1. Adamantinoma and osteofibrous dysplasia cells cultured alone on dentine slices were not capable of lacunar resorption, but in co-cultures with monocytes induced formation of osteoclast-like cells was observered. Cultured osteofibrous dysplasia and adamantinoma stromal cells show similar ultrastructural and immunophenotypic characteristics, and differentially express osteoblast markers. Promotion of osteoclastogenesis by stromal cells may contribute to osteolysis in adamantinoma of long bones and osteofibrous dysplasia.

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“…소파술을 시행하였을 경우 재발률은 64-100%까지 보 고하고 있다 3,15) . 그러나 소파술에 의한 치료도 좋은 결과 를 보였다는 보고도 있으며 14) , 수술 시기와 관련하여 발병 연령에 따라 Campanacci …”

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Importance of Extraperiosteal Excision in Surgical Treatment of Osteofibrous Dysplasia

Jung

Kim

2007

J Korean Orthop Assoc

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Osteofibrous Dysplasia of the Tibia and Fibula

Cited by 20 publications

References 0 publications

Diagnostic value of investigating GNAS mutations in fibro-osseous lesions: a retrospective study of 91 cases of fibrous dysplasia and 40 other fibro-osseous lesions

Diagnostic value of investigating GNAS mutations in fibro-osseous lesions: a retrospective study of 91 cases of fibrous dysplasia and 40 other fibro-osseous lesions

Analysis of stromal cells in osteofibrous dysplasia and adamantinoma of long bones

Importance of Extraperiosteal Excision in Surgical Treatment of Osteofibrous Dysplasia

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