The histopathology of fibrous dysplasia of bone in patients with activating mutations of the Gs? gene: site-specific patterns and recurrent histological hallmarks

Riminucci, Mara; Liu, Bin; Corsi, Alessandro; Shenker, Andrew; Spiegel, Allen M.; Robey, Pamela Gehron; Bianco, Paolo

doi:10.1002/(sici)1096-9896(199901)187:2<249::aid-path222>3.0.co;2-j

Cited by 246 publications

(175 citation statements)

References 24 publications

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“…The osteogenesis of fibrous dysplasia varies from thick anastomosing trabeculae, a pattern reminiscent of low-grade osteosarcoma, to small calcified spherules that mimic cement and may be barely distinguishable from ossifying fibroma. [5][6][7] In addition to its conventional form, the World Health Organization (WHO) recognizes two clinicopathological variants of ossifying fibroma, ie, psammomatoid juvenile ossifying fibroma and trabecular juvenile ossifying fibroma. 1 These lesions develop in any facial bones, mostly in individuals around the age of 15 years, and most frequently in the maxilla and the mandible.…”

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confidence: 99%

Chromosome 12 long arm rearrangement covering MDM2 and RASAL1 is associated with aggressive craniofacial juvenile ossifying fibroma and extracranial psammomatoid fibro-osseous lesions

et al. 2015

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To evaluate the diagnostic value of MDM2 status in craniofacial fibro-osseous lesions, we investigated MDM2 expression by immunohistochemistry and analyzed MDM2 amplification by qPCR in 30 cases of ossifying fibroma (including 13 cases of the juvenile variant) and 17 cases of fibrous dysplasia. Two cases of uncommon extragnathic psammomatoid fibrous dysplasia and a mixed control group of 15 cases of low-grade osteosarcoma and 15 cases of well-differentiated/dedifferentiated liposarcoma were included. MDM2 amplification was found in 33% of ossifying fibromas (peak of 69% for the juvenile variant) and in 12% of fibrous dysplasia, in none of which was MDM2 overexpressed. All control cases exhibited MDM2 amplification and overexpression. To investigate possible polysomy of chromosome 12, we studied RASAL1 amplification, a gene telomeric to MDM2 on the long arm of chromosome 12. RASAL1 amplification was reported in all benign fibro-osseous lesions exhibiting MDM2 amplification but not in controls. Simultaneous amplification of these two genes was significantly higher in juvenile ossifying fibromas compared with fibrous dysplasia (P ¼ 0.004), non-juvenile ossifying fibromas (P ¼ 0.001), and all other benign craniofacial fibro-osseous lesions combined (P ¼ 0.0001). Of the nine cases of juvenile ossifying fibroma exhibiting amplification, three were locally invasive and four were recurrent, suggesting aggressive disease. The two cases of extragnathic psammomatoid fibrous dysplasia also showed MDM2 and RASAL1 amplification with no MDM2 overexpression. This large chromosome 12 rearrangement, spanning MDM2 and RASAL1, is the first recurrent molecular abnormality to be reported in juvenile ossifying fibroma. It may represent both a molecular diagnostic marker and a characteristic of more aggressive forms with a higher risk of recurrence. Finally, the presence of this rearrangement in extragnathic psammomatoid fibro-osseous lesions mimicking ossifying fibromas might reflect a common molecular pathway in their pathogenesis and calls into question the classification of such lesions within fibrous dysplasia.

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Chromosome 12 long arm rearrangement covering MDM2 and RASAL1 is associated with aggressive craniofacial juvenile ossifying fibroma and extracranial psammomatoid fibro-osseous lesions

et al. 2015

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“…The most common location is craniofacial bone (90%) zygomatic maxillary complex. 3 Sinuses may be affected commonly and are sphenoid than ethnoid and maxillary sinus. Patients have nasal blockage, hyposmia facial pain, lacrimation, and loosening of tooth.…”

Section: Discussionmentioning

confidence: 99%

“…In McCune-Albright syndrome, it is defined by triad of polyostotic fibrous dysplasia (PFD) with skin pigmentation, premature sexual development, and hyperthyroidism. 3 It is caused by somatic activation mutation of G protein GMS gene. Monostotic fibrous dysplasia (MFD) is the common manifestation of diseases.…”

Section: Introductionmentioning

confidence: 99%

Extensive Craniofacial Fibrous Dysplasia: An Overview

2017

An International Journal Clinical Rhinology

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Introduction: Fibrous dysplasia (FD) is a common benign osseous tumor that may affect the craniofacial skeletal. It is a slowly progressing disease, presenting with swelling and pressure effects on adjacent structure. Epistaxis as presenting symptom is rare. The literatures reviewed rarely mention it.Aim: The aim of this article is to study the clinical presenta tion and management of extensive craniofacial FD along with review of literature, emphasizing ear, nose, and throat/ endocrinal and orthopedic checkup and computer tomo graphy evaluation and related hematological workup. Serum alkaline phosphatase was also done to see its correlation to disease activity. Brief overview of management and its related complication is done.Results: Both patients were presented with 2year history. There was no predisposing factor. Both were from tribal area. They were having slowly progressive nasal obstruction, facial swelling, and proptosis. In Case 1, it was loosening of tooth and facial pain. In Case 2, it was epistaxis which was the presenting complaint of patient. Nasal obstruction, swelling, and epistaxis in teenager male usually suggest angiofibroma. Craniofacial FD may have epistaxis and pain due to cystic degeneration in FD. Both patients had proptosis; however, their vision was normal. Serum alkaline phosphates was marginally raised, thus not signifying active disease. Computed tomography (CT) scan was diagnostic in both cases, with ground glass appear ance. In Case 2, there was cystic degeneration present and CT was useful in diagnosing the disease, to show the extent of lesion and any intracranial extension. Fine needle aspiration cytology was inconclusive and incision biopsy is better to get representative sample. Lateral rhinotomy approach with lip splitting and gingival component gave good exposure. The tumor was totally removed with thin bone at periphery. The tumor was vascular, and bleeding was controlled by anterior nasal packing.

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“…Okada et al 4 identified pagetoid bone formation in 5% of parosteal osteosarcomas in their series. More recently Riminucci et al 5 have described a 'pagetoid' variant of fibrous dysplasia involving the craniofacial bones, characterized by dense sclerotic bone formation with prominent cement lines closely resembling that seen in Paget's disease of bone.…”

Section: Pagetoid Low-grade Osteosarcomamentioning

confidence: 99%

Central low-grade osteosarcoma with pagetoid bone formation: a potential diagnostic pitfall

et al. 2004

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Central low-grade osteosarcoma is an uncommon form of osteosarcoma, which is often difficult to distinguish from benign bone lesions. We reviewed the radiographic studies, the histologic material and the clinical records of two patients with central low-grade osteosarcoma that closely simulated the histologic appearance of Paget's disease of bone. The patients were two women aged 46 and 53 years. Radiologically, they presented a large ill-defined densely sclerotic lesion involving the proximal tibia. Both lesions only focally presented the conventional histologic appearance of central low-grade osteosarcoma, with a proliferation of fibroblast-like cells embedded in a dense collagenous stroma and irregular anastomosing tumor bone trabeculae. The most striking feature was the presence of extremely thickened irregular plates of bone with an irregular mosaic pattern of cement lines that closely resembled that of Paget's disease of bone. One patient, who had been initially treated for Paget's disease for 7 years, experienced disease progression. At resection of proximal tibia, there was evidence of dedifferentiation to high-grade osteosarcoma. After 2 months, she developed local recurrence that was treated with above-knee amputation, followed by chemotherapy. She died with multiple lung metastases 4 months later. The other patient is alive 9 months after wide tumor resection. These cases further expand the spectrum of central low-grade osteosarcoma, and underscore the diagnostic difficulties in separating central low-grade osteosarcoma from benign bone diseases, which may lead to delay in diagnosis, inadequate treatment, and eventually to dedifferentiation. Recognition of this variant of central low-grade osteosarcoma is based on the aggressive radiologic appearance and on adequate tumor sampling for histologic examination

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The histopathology of fibrous dysplasia of bone in patients with activating mutations of the Gs? gene: site-specific patterns and recurrent histological hallmarks

Cited by 246 publications

References 24 publications

Chromosome 12 long arm rearrangement covering MDM2 and RASAL1 is associated with aggressive craniofacial juvenile ossifying fibroma and extracranial psammomatoid fibro-osseous lesions

Chromosome 12 long arm rearrangement covering MDM2 and RASAL1 is associated with aggressive craniofacial juvenile ossifying fibroma and extracranial psammomatoid fibro-osseous lesions

Extensive Craniofacial Fibrous Dysplasia: An Overview

Central low-grade osteosarcoma with pagetoid bone formation: a potential diagnostic pitfall

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