Activating Mutations of the Stimulatory G Protein in the McCune–Albright Syndrome

Weinstein, Lee S.; Shenker, Andrew; Gejman, Pablo V.; Merino, María J.; Friedman, Eitan; Spiegel, Allen M.

doi:10.1056/nejm199112123252403

Cited by 1,549 publications

(940 citation statements)

References 34 publications

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“…[23][24][25] Osteocalcin, the most abundant noncollagenous protein, 24 is distributed throughout normal bone 25 and has been shown by gene knockout technology to be a negative regulator of bone formation. 26 The abundance of osteocalcin -4), gnathic fibrous dysplasia (lanes 5-9), and ossifying fibroma (lanes [10][11][12][13][14] in the presence of PNA. After EagI digestion, all extragnathic and gnathic fibrous dysplasias showed persistent undigested 88-bp fragments (lanes 1-9).…”

Section: Discussionmentioning

confidence: 99%

“…After EagI digestion, all extragnathic and gnathic fibrous dysplasias showed persistent undigested 88-bp fragments (lanes 1-9). In contrast, all ossifying fibromas showed digested 74-bp fragments (lanes [10][11][12][13][14]. A 10-bp ladder was used as a size marker.…”

Section: Discussionmentioning

confidence: 99%

“…11 Subsequently, GNAS mutations were observed in extragnathic fibrous dysplasias without McCuneAlbright syndrome, [12][13][14][15] recognizing it as a marker of fibrous dysplasia. However, the presence or absence of GNAS mutations in gnathic fibrous dysplasias has not been examined.…”

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confidence: 99%

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Ossifying fibroma vs fibrous dysplasia of the jaw: molecular and immunological characterization

et al. 2007

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Ossifying fibroma and fibrous dysplasia of the jaw are maxillofacial fibro-osseous lesions that should be distinguished each other by a pathologist because they show distinct patterns of disease progression. However, both lesions often show similar histological and radiological features, making distinction between the two a diagnostic dilemma. In this study, we performed immunological and molecular analyses of five ossifying fibromas, four cases of extragnathic fibrous dysplasia, and five cases of gnathic fibrous dysplasia with typical histological and radiographic features. First, we examined the difference between fibrous dysplasia and ossifying fibroma in the expression of Runx2 (which determined osteogenic differentiation from mesenchymal stem cells) and other osteogenic markers. Fibroblastic cells in fibrous dysplasia and ossifying fibroma showed strong Runx2 expression in the nucleus. The bone matrices of both lesions showed similar expression patterns for all markers tested except for osteocalcin. Immunoreactivity for osteocalcin was strong throughout calcified regions in fibrous dysplasia, but weak in ossifying fibroma lesions. Second, we performed PCR analysis with peptide nucleic acid (PNA) for mutations at the Arg 201 codon of the alpha subunit of the stimulatory G protein gene (GNAS), which has reported to be a marker for extragnathic fibrous dysplasia. All nine cases of extragnathic or gnathic fibrous dysplasia were positive for this mutation. On the other hand, none of the five cases of ossifying fibroma showed the mutation. These findings indicate that although fibrous dysplasia and ossifying fibroma are similar disease entities, especially in the demonstration of the osteogenic lineage in stromal fibroblast-like cells, they show distinct differences that can be revealed by immunohistochemical detection of osteocalcin expression. Furthermore, PCR analysis with PNA for GNAS mutations at the Arg 201 codon is a useful method to differentiate between fibrous dysplasia and ossifying fibroma.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Ossifying fibroma vs fibrous dysplasia of the jaw: molecular and immunological characterization

et al. 2007

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“…Fibrous dysplasia (FD) of bone is a genetic, non-inherited disease caused by somatic activating missense mutation of the GNAS gene [21] in which the normal bone-bone marrow organ is replaced by fibro-osseous tissue [2,11]. FD represents approximately 7% of all benign tumor-like bone lesions and may affect the skeleton either in isolation (monostotic and polyostotic FD) or in variable combination with endocrine and cutaneous abnormalities (McCuneAlbright Syndrome, MAS) [1,2,11,12,21].…”

Section: Introductionmentioning

confidence: 99%

“…FD represents approximately 7% of all benign tumor-like bone lesions and may affect the skeleton either in isolation (monostotic and polyostotic FD) or in variable combination with endocrine and cutaneous abnormalities (McCuneAlbright Syndrome, MAS) [1,2,11,12,21].…”

Section: Introductionmentioning

confidence: 99%

Scoliosis and spine involvement in fibrous dysplasia of bone

et al. 2009

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Few studies focused on the prevalence of scoliosis and involvement of the spine in patients with fibrous dysplasia (FD) of bone. We examined for FD involvement of the spine and scoliosis in 56 patients affected by FD of bone. Fifty patients were part of a cohort reported in a multicentric study on FD promoted by European Pediatric Orthopedic Society (EPOS) in 1999, and six were new patients. There were 30 females and 26 males (mean age 12.5 years; range 1-42 years). Twenty-three had monostotic FD, 9 polyostotic FD, and 24 McCune-Albright Syndrome (MAS). Scoliosis was observed in 11 cases of polyostotic FD and MAS (33.3%). In seven of the patients with scoliosis (63.3%) spine was involved by FD lesional tissue. FD lesions involved the thoracic or lumbar spine in all patients but one, where cervical spine was also affected. A correlation between scoliosis and either spinal (p \ 0.01) or pelvic lesions (p \ 0.05) and pelvic obliquity (p \ 0.01) was observed. Three of the 11 patients showed familiarity for scoliosis but in 2 of them spine was involved by FD. Scoliosis and spine involvement were never detected in monostotic FD. This study indicates that in FD patients with polyostotic disease (1) the prevalences of FD involvement of the spine and scoliosis are high enough to include spine in the clinico-radiographic survey of these patients, and (2) the involvement of the spine and pelvis by FD lesions and pelvic obliquity are important determinants in the occurrence of scoliosis.

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Pigmentary patterning as a clinical clue of genetic mosaicism

Paller¹

1996

Archives of Dermatology

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Activating Mutations of the Stimulatory G Protein in the McCune–Albright Syndrome

Cited by 1,549 publications

References 34 publications

Ossifying fibroma vs fibrous dysplasia of the jaw: molecular and immunological characterization

Ossifying fibroma vs fibrous dysplasia of the jaw: molecular and immunological characterization

Scoliosis and spine involvement in fibrous dysplasia of bone

Pigmentary patterning as a clinical clue of genetic mosaicism

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