GNAS mutation analysis assists in differentiating chronic diffuse sclerosing osteomyelitis from fibrous dysplasia in the jaw

Jiang, Xue; Jia, Kuankuan; Li, Tiejun; Zhang, Jianyun; An, Jingang

doi:10.1038/s41379-022-01103-w

Cited by 5 publications

(5 citation statements)

References 33 publications

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“…or ossifying fibroma [27]. They also show that out of 29 patients diagnosed with FD, only 24 (83%) had detectable mutations [28]. Overall, the positive rate for GNAS1 mutation in the craniofacial bones is around 78% [27].…”

Section: Radiographic Featuresmentioning

confidence: 92%

“…Xue et al (2022) demonstrated that the mutational analysis of GNAS can help to differentiate between FD and other lesions, such as chronic diffuse sclerosing osteomyelitis or ossifying fibroma [ 27 ]. They also show that out of 29 patients diagnosed with FD, only 24 (83%) had detectable mutations [ 28 ]. Overall, the positive rate for GNAS1 mutation in the craniofacial bones is around 78% [ 27 ].…”

Section: Pathophysiology and Mutational Analysismentioning

confidence: 99%

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Fibrous Dysplasia of the Jaw: Advances in Imaging and Treatment

Obermeier

Hartung

Hildebrandt

et al. 2023

JCM

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A total of 7% of all benign bone lesions are diagnosed as fibrous dysplasia (FD). The symptoms of FD of the jaw range from asymptomatic to dental anomalies, pain and facial asymmetry. Due to its resemblance to other fibro-osseous bone lesions, misdiagnosis often occurs and can lead to inadequate treatment. Particularly in the jaw, this lesion does not become quiescent during puberty, making fundamental knowledge about the diagnosis and treatment of FD crucial. Mutational analysis and nonsurgical approaches offer new diagnostic and therapeutic options. In this review, we examine the advances and the difficulties of the diagnosis and the various treatment modalities of FD of the jaw in order to capture the current scientific knowledge on this bone disease.

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Section: Radiographic Featuresmentioning

confidence: 92%

Section: Pathophysiology and Mutational Analysismentioning

confidence: 99%

Fibrous Dysplasia of the Jaw: Advances in Imaging and Treatment

Obermeier

Hartung

Hildebrandt

et al. 2023

JCM

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“…65 Among fibroosseous lesions, detection of GNAS mutation can support fibrous dysplasia, as GNAS mutation is absent in mimics such as osteofibrous dysplasia, parosteal/low-grade central osteosarcoma, ossifying fibroma, and chronic diffuse sclerosing osteomyelitis. [66][67][68][69] However, rare high-grade osteosarcomas arising in association with fibrous dysplasia can retain GNAS mutation. 70 Low-grade osteosarcoma arises in the surface (parosteal osteosarcoma) or the medullary cavity (lowgrade central osteosarcoma).…”

Section: F I B R O O S S E O U S L E S I O N Smentioning

confidence: 99%

“…Activating GNAS mutations at codon R201 are present in ~50–70% of fibrous dysplasia (Figure 2A,B), 62–64 leading to Wnt/β‐catenin signalling dysregulation 65 . Among fibroosseous lesions, detection of GNAS mutation can support fibrous dysplasia, as GNAS mutation is absent in mimics such as osteofibrous dysplasia, parosteal/low‐grade central osteosarcoma, ossifying fibroma, and chronic diffuse sclerosing osteomyelitis 66–69 . However, rare high‐grade osteosarcomas arising in association with fibrous dysplasia can retain GNAS mutation 70 …”

Section: Introductionmentioning

confidence: 99%

Molecular and immunohistochemical testing of bone tumours: review and update

et al. 2022

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Molecular and immunohistochemical testing of bone tumours: review and updatePrimary bone tumours can pose diagnostic problems due to their overlapping radiologic and histologic features. Given the recent advancement in our understanding of the biology of bone tumours, multiple immunohistochemical and molecular markers have been devised to aid in their diagnosis. This review provides brief updates on select bone tumours, including chondrosarcomas, benign chondrogenic tumours, osteosarcomas, benign osteogenic tumours, fibroosseous lesions, vascular tumours, osteoclastic giant cell-rich or cystic tumours, chordoma, adamantinoma, small round blue cell sarcomas, and others. We discuss their salient molecular features and novel immunohistochemical correlates, along with some tips to avoid common diagnostic pitfalls.

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“…Das bildmorphologische und das histologische Bild der FD sind charakteristisch, aber letztlich nicht spezifisch. Dif- Abhilfe schaffen [11]. Gelegentlich zeigen FD eine zystische hämorrhagische Degeneration, die dann der aneurysmatischen Knochenzyste und Riesenzellläsion ähnelt [12].…”

Section: » Die Definitive Diagnose Einer Fd Erfordert Den Nachweis Ei...unclassified

Fibroossäre, riesenzellhaltige und hämatolymphoide Kieferläsionen

2022

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ZusammenfassungDie Weltgesundheitsorganisation (WHO) unterteilt die odontogenen und maxillofazialen Knochentumoren in gutartige und bösartige Knochen- und Knorpeltumoren, Kieferzysten, odontogene Tumoren sowie Riesenzellläsionen und Knochenzysten. Die Zuordnung dieser Entitäten stellt Radiologen wie Pathologen häufig vor Herausforderungen und gelingt meist nur in der Synopse. Neu entdeckte molekulargenetische Marker helfen, die Läsionen besser zu verstehen und zu klassifizieren, erleichtern die Diagnosefindung und bieten mögliche Ansatzpunkte für eine zielgerichtete Therapie. In diesem Beitrag werden wichtige Vertreter fibroossärer, riesenzellhaltiger und hämatolymphoider Kieferläsionen unter differenzialdiagnostischen Gesichtspunkten sowie unter Berücksichtigung neuer molekulargenetischer Marker und der aktuellen WHO-Klassifikation für Kopf-Hals-Tumoren (5. Auflage) besprochen.

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GNAS mutation analysis assists in differentiating chronic diffuse sclerosing osteomyelitis from fibrous dysplasia in the jaw

Cited by 5 publications

References 33 publications

Fibrous Dysplasia of the Jaw: Advances in Imaging and Treatment

Fibrous Dysplasia of the Jaw: Advances in Imaging and Treatment

Molecular and immunohistochemical testing of bone tumours: review and update

Fibroossäre, riesenzellhaltige und hämatolymphoide Kieferläsionen

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