섬유성 이형성증 및 골섬유성 이형성증에서의 c-fos 단백 발현

박혜림,박용구,김덕환,Park, Hye-Rim,Park, Yong-Koo,Kim, Duck-Whan 대한근골격종양학회 1999 대한골관절종양학회지 Vol.5 No.4

The purpose of this study was to evaluate the role of c-fos oncogenes in the development of fibrous dysplasia and osteofibrous dysplasia. The immunohistochemical expression of c-fos protein was evaluated in 15 cases of fibrous dysplasia and 8 cases of osteofibrous dysplasia. Ten cases of fibrous dysplasia were weakly positive with c-fos. Six cases of osteofibrous dysplasia were weakly positive and the remaining two cases were strongly positive. The overall expression of c-fos protein is weaker than high-grade osteosarcoma, thus the implication of c-fos protein is little in the development of these tumors. Fibrous dysplasia and osteofibrous dysplasia share some features of characteristic histology and c-fos expression.

The diagnostic utility of the GNAS mutation in patients with fibrous dysplasia: meta-analysis of 168 sporadic cases

Lee, S.E.,Lee, E.H.,Park, H.,Sung, J.Y.,Lee, H.W.,Kang, S.Y.,Seo, S.,Kim, B.H.,Lee, H.,Seo, A.N.,Ahn, G.,Choi, Y.L. W. B. Saunders Co ; Centrum Philadelphia 2012 Human pathology Vol.43 No.8

GNAS mutations have been implicated in the development of fibrous dysplasia and multiple endocrinopathies of the Albright-McCune syndrome. To investigate the diagnostic utility of GNAS mutations in patients with fibrous dysplasia, we performed mutational analyses of histologically confirmed fibrous dysplasia and conducted a meta-analysis of the literature. We collected 48 cases of fibrous dysplasia from 3 institutions from 2002 to 2011 and performed polymerase chain reaction and direct bidirectional sequencing of exons 8 and 9 of GNAS using paraffin-embedded tissues. We searched MEDLINE, PubMed, and the KoreaMed databases from 1997 to 2011 and included an additional 155 cases of fibrous dysplasia from 8 representative studies to conduct a meta-analysis. In our sample, 28 (58.3%) of 48 cases showed point mutations of codon 201 at exon 8. Twenty-five cases had a substitution of arginine at codon 201 for histidine (p.R201H), and 3 cases had a substitution for cysteine (p.R201C). One case had a new mutation at codon 224 (p.V224A). The incidence of GNAS mutations was significantly greater in cases that involved long bones than in cases that involved flat bones (P = .017) and was higher in polyostotic cases than in monostotic cases (P = .067). In meta-analysis, 9 studies and 203 patients were included. The overall positive rate of GNAS mutation in fibrous dysplasia was 71.9% (146/203). The major types of mutations were missense mutations such as R201H (66.4%) and R201C (30.8%). As a result, the detection of GNAS mutation could be a valuable adjunct to conventional histopathologic diagnosis of fibrous dysplasia.

안면골 섬유 이형성증이 악성 섬유성 조직구증으로 악성화된 환자의 치험례

이상준,임소영,오갑성,방사익,현원석,문구현 대한성형외과학회 2007 Archives of Plastic Surgery Vol.34 No.3

Purpose: Malignant degeneration of fibrous dysplasia is an uncommon recognized complication of this disease. Especially, degeneration of fibrous dysplasia to malignant fibrous histiocytoma(MFH) in facial bone is rare and the publications had been limited. The purpose of this report is to share our experience.Methods: A 46-year-old patient with facial fibrous dysplasia visited our clinic for recent facial tingling and swelling. Malignant degeneration of fibrous dysplasia was suspected.Results: Total excision of the mass and adjacent facial bone was performed. Defect was immediately reconstructed with bone graft and bone cement. At a month follow up, metastasis was detected at ipsilateral parotid gland. Superficial parotidectomy and neck dissection was performed. The patient is currently taking chemotherapy.Conclusion: Because of the uncommon presentation of this entity, clinical course of treatment was dependent on other histological types of malignant degeneration. We report this case to share our experience.

섬유성이형성증과 골화섬유종의 방사선학적 감별진단

최갑식 大韓口腔顎顔面 放射線學會 1999 Imaging Science in Dentistry Vol.29 No.1

The author observed and compared the radiographic features of 49 cases of the fibrous dysplasia and 14 cases of the ossifying fibroma in the osteoblastic or mature stage radiologically and histopathologically. The obtained results were as follows: 1. Fibrous dysplasia occurred most frequently in the 2nd decade, but ossifying fibroma in the 3rd and 4th decades, and both lesions occurred with slight predilection in females. 2. In most cases, chief complaints were painless facial swelling. And 61.1% of fibrous dysplasia occurred in the maxilla, 92.9% of ossifying fibroma in the mandible, and most of these lesions occurred in the premolar-molar region. 3. In the mandibular lesions, ossifying fibroma was shown more oval and round shape, but fibrous dysplasia was shown fusiform shape. 4. Fibrous dysplasia was shown homogeneously distributed, complete radiopaque shadow at 63%, and ossifying fibroma was shown concentric, mixed appearance of radiolucent and radiopaque shadow at 92.9%. 5. Fibrous dysplasia was entirely shown poorly outlined and blended to normal surrounding bone, but ossifying fibroma was shown well-defined border. 6. Cortical thinning and expansion were observed in these lesions, but degree of cortical expansion was more severe in ossifying fibroma than fibrous dysplasia. 7. Loss of lamina dura, tooth displacement, and displacement of mandibular canal were observed in both lesions, but root resorption was observed in ossifying fibroma only.(J Korean Oral Maxillofac Radiol 1999:29:55-63)

Clinical study of benign and malignant fibrous-osseous lesions of the jaws

Ju-Min Lee,Won-Wook Song,Jae-Yeoul Lee,Dae-Seok Hwang,Yong-Deok Kim,Sang-Hun Shin,In-Kyo Chung,Uk-Kyu Kim 대한구강악안면외과학회 2012 대한구강악안면외과학회지 Vol.38 No.1

Introduction: Fibrous-osseous lesions of the jaws are difficult to diagnose precisely until excised biopsy results are found, so they might be confused with malignant lesions. This clinical study focused on the diagnostic aids of lesions that demonstrate different clinical, radiologic, and histological findings. Materials and Methods: A total of 16 patients with benign fibrous-osseous lesions on the jaws (6 fibrous dysplasias, 6 ossifying fibromas, 3 cemental dysplasias, and one osteoblastoma) were reviewed. Nine patients with malignant fibrous-osseous lesions (8 osteosarcomas and one Ewing s sarcoma) were also retrospectively reviewed. Results: Osteosarcoma patients complained of facial swelling and tooth mobility. The radiographic findings showed the irregular resorption of cortical bone and periosteal reactions. Histological features included cellular pleomorphism and atypical mitosis. An Ewing s sarcoma patient complained of tooth mobility and facial swelling. Onion-skin appearance and irregular expansile marginal bony radiolucency were seen in the radiography. Fibrous dysplasia patients complained of facial swelling and asymmetry. The radiographic features were mostly ground-glass radiopacity. Histological findings showed a bony trabeculae pattern surrounded by fibrous ground substances. Ossifying fibroma patients complained of buccal swelling and jaw pains, showing expanded cortical radiolucent lesions with a radiopaque margin. Histological findings were revealed as cellular fibrous stroma with immature woven bones. In cemental dysplasia, most of their lesions were found in a routine dental exam. Well-circumscribed radiopaque lesions were observed in the radiography, and cementum-like ossicles with fibrous stroma were seen in the microscopy. An osteoblastoma patient complained of jaw pain and facial swelling. Radiographic findings were mottled, dense radiopacity with osteolytic margin. Trabeculae of the osteoid with a vascular network and numerous osteoblasts with woven bone were predominantly found in the microscopy. Conclusion: Our study showed similar results as other studies. We suggest the clinical parameters of diagnosis and treatment for malignant and benign fibrous-osseous lesions of the jaws.

Computed tomographic features of fibrous dysplasia of maxillofacial region

Sontakke, Subodh Arun,Karjodkar, Freny R.,Umarji, Hemant R. Korean Academy of Oral and Maxillofacial Radiology 2011 Imaging Science in Dentistry Vol.41 No.1

Purpose : This study was to find the computed tomographic features of fibrous dysplasia of the maxillofacial region. Materials and Methods : All eight cases included in the study reported either to Government Dental College and Hospital or Nair Hospital Dental College, Mumbai between 2003 and 2009. The patients were prescribed computed tomogram in addition to conventional radiographs of maxillofacial region which were studied for characteristic features of fibrous dysplasia. The diagnosis of fibrous dysplasia was confirmed by histopathological report. Results : All cases showed the ill-defined margins of lesions except in the region where the lesions were extending to cortex of the involved bone. Internal structure of all cases showed ground glass appearance. Four cases of maxillary lesion showed the displacement of maxillary sinus maintaining the shape of maxillary sinus. Two cases showed complete obliteration of maxillary sinus. Displacement of inferior alveolar canal did not follow any typical pattern in any of the cases but was displaced in different directions. Conclusion : The craniofacial type of fibrous dysplasia is as common as fibrous dysplasia of jaw. The margins, extent, internal structure and effect on surrounding structure are well detected on computed tomographic images.

Computed tomographic features of fibrous dysplasia of maxillofacial region

Subodh Arun Sontakke,Freny R Karjodkar,Hemant R Umarji 대한구강악안면방사선학회 2011 Imaging Science in Dentistry Vol.41 No.1

Purpose This study was to find the computed tomographic features of fibrous dysplasia of the maxillofacial region. Materials and Methods All eight cases included in the study reported either to Government Dental College and Hospital or Nair Hospital Dental College, Mumbai between 2003 and 2009. The patients were prescribed computed tomogram in addition to conventional radiographs of maxillofacial region which were studied for characteristic features of fibrous dysplasia. The diagnosis of fibrous dysplasia was confirmed by histopathological report. Results All cases showed the ill-defined margins of lesions except in the region where the lesions were extending to cortex of the involved bone. Internal structure of all cases showed ground glass appearance. Four cases of maxillary lesion showed the displacement of maxillary sinus maintaining the shape of maxillary sinus. Two cases showed complete obliteration of maxillary sinus. Displacement of inferior alveolar canal did not follow any typical pattern in any of the cases but was displaced in different directions. Conclusion The craniofacial type of fibrous dysplasia is as common as fibrous dysplasia of jaw. The margins, extent, internal structure and effect on surrounding structure are well detected on computed tomographic images.

Current concepts of craniofacial fibrous dysplasia: pathophysiology and treatment

Dong Yeon Kim 대한두개안면성형외과학회 2023 Archives of Craniofacial Surgery Vol.24 No.2

Fibrous dysplasia is an uncommon genetic disorder in which bone is replaced by immature bone and fibrous tissue, manifesting as slowgrowing lesions. Sporadic post-zygotic activating mutations in GNAS gene result in dysregulated GαS-protein signaling and elevation of cyclic adenosine monophosphate in affected tissues. This condition has a broad clinical spectrum, ranging from insignificant solitary lesions to severe disease. The craniofacial area is the most common site of fibrous dysplasia, and nine out of 10 patients with fibrous dysplasia affecting the craniofacial bones present before the age of 5. Surgery is the mainstay of treatment, but the technique varies according to the location and severity of the lesion and associated symptoms. The timing and indications of surgery should be carefully chosen with multidisciplinary consultations and a patient-specific approach.

좌측 악안면부위에 발생한 섬유성 골이형성증 치험례

임석균,여환호,김영균,김수관,Lim, Seok-kyun,Yeo, Hwan-Ho,Kim, Young-Kyun,Kim, Su-Gwan 대한악안면성형재건외과학회 1998 Maxillofacial Plastic Reconstructive Surgery Vol.20 No.3

Fibrous dysplasia is a benign pathologic condition of bone which medullary bone is replaced and disturbed by poorly organized, structually unsound fibro-osseous tissue. When facial bones are involved, considerable esthetic deformity may result. The term monostotic fibrous dysplasia has been applied when one bone is involved : when more than one bone is affected, the term polyostotic used. The polyostotic form may be accomplished by pigmented skin lesion (Jaffe type), or by pigmented skin lesions with endocrine disturbance (Albright syndrome). No general agreement exists on the cause of fibrous dysplasia. A few authors have suggested that fibrous dysplasia as a result of trauma. It occurs predominantly in infant, adolescent females and runs a variable clinical coures. When several bones are involved, it tends to be unilateral. Involvements of alveolar bone may produce displacement of teeth with malocclusion, or loss of teeth, or both. Now, we will present a case of fibrous dysplasia on the left facial region treated by conservative contouring surgery.

접형동과 사대를 동시에 침범한 섬유성 골이형성증

김나현,김시홍,김경록,김경수 대한비과학회 2009 Journal of rhinology Vol.16 No.2

Fibrous dysplasia is an uncommon benign bone disorder in which normal medullary bone is replaced by fibrotic and osseous tissue. Limited involvement of the sphenoid sinus or the clivus is extremely unusual. Here, we present a case of fibrous dysplasia in a 46-year-old female that involved the sphenoid sinus and the clivus simultaneously. Imaging modalities demonstrated an expansile lesion filling the entire left sphenoid sinus, extending to the clivus. Biopsy specimen was obtained by endoscopic sphenoid sinusotomy, and it showed extensive spindle-shaped fibroblastic cells with irregularly shaped trabeculae of woven bone which was compatible with fibrous dysplasia. After 6-month follow-up, the patient displayed no evidence of recurrence. Fibrous dysplasia is an uncommon benign bone disorder in which normal medullary bone is replaced by fibrotic and osseous tissue. Limited involvement of the sphenoid sinus or the clivus is extremely unusual. Here, we present a case of fibrous dysplasia in a 46-year-old female that involved the sphenoid sinus and the clivus simultaneously. Imaging modalities demonstrated an expansile lesion filling the entire left sphenoid sinus, extending to the clivus. Biopsy specimen was obtained by endoscopic sphenoid sinusotomy, and it showed extensive spindle-shaped fibroblastic cells with irregularly shaped trabeculae of woven bone which was compatible with fibrous dysplasia. After 6-month follow-up, the patient displayed no evidence of recurrence.