GNAS mutational analysis in differentiating fibrous dysplasia and ossifying fibroma of the jaw

Modern Pathology

Volumn 26, Issue 8, 2013, Pages 1023-1031

  Shi, Rui Rui ^a   Li, Xue Fen ^a   Zhang, Ran ^a   Chen, Yan ^a   Li, Tie Jun ^a,b  

^a PEKING UNIVERSITY   (China)

^b NATIONAL ENGINEERING LABORATORY FOR DIGITAL AND MATERIAL TECHNOLOGY OF STOMATOLOGY   (China)

Author keywords

Differential diagnosis; Fibrous dysplasia; GNAS; Ossifying fibroma

Indexed keywords

ARGININE; CYSTEINE; GENOMIC DNA; GLUTAMINE; HISTIDINE;

ADULT; ALBRIGHT SYNDROME; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CODON; DIFFERENTIAL DIAGNOSIS; DNA SEQUENCE; EXON; FEMALE; FIBROUS DYSPLASIA; GNAS MUTATIONAL ANALYSIS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; JAW DISEASE; MAJOR CLINICAL STUDY; MALE; MANDIBLE; MAXILLA; META ANALYSIS (TOPIC); MISSENSE MUTATION; MUTATIONAL ANALYSIS; ONSET AGE; OSSIFYING FIBROMA; OSTEOBLAST; PANORAMIC RADIOGRAPHY; PATIENT REFERRAL; PERIODONTAL LIGAMENT; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; BONE NEOPLASMS; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FEMALE; FIBROMA, OSSIFYING; FIBROUS DYSPLASIA OF BONE; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; JAW NEOPLASMS; MALE; MIDDLE AGED; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; YOUNG ADULT;

EID: 84881316368     PISSN: 08933952     EISSN: 15300285     Source Type: Journal    
DOI: 10.1038/modpathol.2013.31     Document Type: Article

References (35)

1. Toyosawa S, Yuki M, Kishino M, et al. Ossifying fibroma vs fibrous dysplasia of the jaw: Molecular and immunological characterization. Mod Pathol 2007; 20:389-396.
2. Huebner GR, Brenneise CV, Ballenger J. Central ossifying fibroma of the anterior maxilla. Report of a case. J Am Dent Assoc 1988;116:507-510.
3. Gondivkar SM, Gadbail AR, Chole R, et al. Ossifying fibroma of the jaws: Report of two cases and literature review. Oral Oncol 2011;47:804-809.
4. Alawi F. Benign fibro-osseous diseases of the maxillofacial bones. A review and differential diagnosis. Am J Clin Pathol 2002;118(Suppl):S50-S70.
5. Slootweg PJ. Bone diseases of the jaws. Int J Dent 2010;2010:702314.
6. Valentini V, Cassoni A, Marianetti TM, et al. Craniomaxillofacial fibrous dysplasia: Conservative treatment or radical surgery? A retrospective study on 68 patients. Plast Reconstr Surg 2009;123:653-660.
7. Hart ES, Kelly MH, Brillante B, et al. Onset, progression, and plateau of skeletal lesions in fibrous dysplasia and the relationship to functional outcome. J Bone Miner Res 2007;22:1468-1474.
8. Kusano T, Hirabayashi S, Eguchi T, et al. Treatment strategies for fibrous dysplasia. J Cranilfac Surg 2009;20:768-770.
9. Thompson L. World Health Organization classification of tumours: Pathology and genetics of head and neck tumours. Ear Nose Throat J 2006;85:74.
10. Alsharif MJ, Sun ZJ, Chen XM, et al. Benign fibro-osseous lesions of the jaws: A study of 127 Chinese patients and review of the literature. Int J Surg Pathol 2009;17:122-134.
11. Riminucci M, Fisher LW, Shenker A, et al. Fibrous dysplasia of bone in the McCune-Albright syndrome: Abnormalities in bone formation. Am J Pathol 1997;151:1587-1600.
12. Riminucci M, Liu B, Corsi A, et al. The histopathology of fibrous dysplasia of bone in patients with activating mutations of the Gs alpha gene: Site-specific patterns and recurrent histological hallmarks. J Pathol 1999;187:249-258.
13. Kuznetsov SA, Cherman N, Riminucci M, et al. Age-dependent demise of GNAS-mutated skeletal stem cells and 'normalization' of fibrous dysplasia of bone. J Bone Miner Res 2008;23:1731-1740.
14. Patel MM, Wilkey JF, Abdelsayed R, et al. Analysis of GNAS mutations in cemento-ossifying fibromas and cemento-osseous dysplasias of the jaws. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2010;109: 739-743.
15. Liang Q, Wei M, Hodge L, et al. Quantitative analysis of activating alpha subunit of the G protein (Gsalpha) mutation by pyrosequencing in fibrous dysplasia and other bone lesions. J Mol Diagn 2011;13:137-142.
16. Fan QM, Yue B, Bian ZY, et al. The CREB-Smad6-Runx2 axis contributes to the impaired osteogenesis potential of bone marrow stromal cells in fibrous dysplasia of bone. J Pathol 2012;228:45-55.
17. Lee SE, Lee EH, Park H, et al. The diagnostic utility of the GNAS mutation in patients with fibrous dysplasia: Meta-analysis of 168 sporadic cases. Hum Pathol 2012;43:1234-1242.
18. Mariot V, Wu JY, Aydin C, et al. Potent constitutive cyclic AMP-generating activity of XLalphas implicates this imprinted GNAS product in the pathogenesis of McCune-Albright syndrome and fibrous dysplasia of bone. Bone 2011;48:312-320.
19. Sakayama K, Sugawara Y, Kidani T, et al. Polyostotic fibrous dysplasia with gigantism and huge pelvic tumor: A rare case of McCune-Albright syndrome. Int J Clin Oncol 2011;16:270-274.
20. Michienzi S, Cherman N, Holmbeck K, et al. GNAS transcripts in skeletal progenitors: Evidence for random asymmetric allelic expression of Gs alpha. Hum Mol Genet 2007;16:1921-1930.
21. Idowu BD, Al-Adnani M, O'Donnell P, et al. A sensitive mutation-specific screening technique for GNAS1 mutations in cases of fibrous dysplasia: The first report of a codon 227 mutation in bone. Histopathology 2007;50:691-704.
22. Kalfa N, Philibert P, Audran F, et al. Searching for somatic mutations in McCune-Albright syndrome: A comparative study of the peptidic nucleic acid versus the nested PCR method based on 148 DNA samples. Eur J Endocrinol 2006;155:839-843.
23. Corsi A, De Maio F, Ippolito E, et al. Monostotic fibrous dysplasia of the proximal femur and liposclerosing myxofibrous tumor: Which one is which? J Bone Miner Res 2006;21:1955-1958.
24. Kobayashi K, Imanishi Y, Koshiyama H, et al. Expression of FGF23 is correlated with serum phosphate level in isolated fibrous dysplasia. Life Sci 2006;78:2295-2301.
25. Akintoye SO, Kelly MH, Brillante B, et al. Pegvisomant for the treatment of gsp-mediated growth hormone excess in patients with McCune-Albright syndrome. J Clin Endocrinol Metab 2006;91:2960-2966.
26. Karadag A, Riminucci M, Bianco P, et al. A novel technique based on a PNA hybridization probe and FRET principle for quantification of mutant genotype in fibrous dysplasia/McCune-Albright syndrome. Nucleic Acids Res 2004;32:e63.
27. Riminucci M, Kuznetsov SA, Cherman N, et al. Osteoclastogenesis in fibrous dysplasia of bone: In situ and in vitro analysis of IL-6 expression. Bone 2003;33:434-442.
28. Corsi A, Collins MT, Riminucci M, et al. Osteomalacic and hyperparathyroid changes in fibrous dysplasia of bone: Core biopsy studies and clinical correlations. J Bone Miner Res 2003;18:1235-1246.
29. Ippolito E, Bray EW, Corsi A, et al. Natural history and treatment of fibrous dysplasia of bone: A multicenter clinicopathologic study promoted by the European Pediatric Orthopaedic Society. J Pediatr Orthop B 2003;12:155-177.
30. Bianco P, Riminucci M, Majolagbe A, et al. Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone. J Bone Miner Res 2000;15:120-128.
31. Pollandt K, Engels C, Kaiser E, et al. Gsalpha gene mutations in monostotic fibrous dysplasia of bone and fibrous dysplasia-like low-grade central osteosarcoma. Virchows Arch 2001;439:170-175.
32. Riminucci M, Fisher LW, Majolagbe A, et al. A novel GNAS1 mutation, R201G, in McCune-Albright syndrome. J Bone Miner Res 1999;14: 1987-1989.
33. Stanton RP, Hobson GM, Montgomery BE, et al. Glucocorticoids decrease interleukin-6 levels and induce mineralization of cultured osteogenic cells from children with fibrous dysplasia. J Bone Miner Res 1999;14:1104-1114.
34. Tinschert S, Gerl H, Gewies A, et al. McCune-Albright syndrome: Clinical and molecular evidence of mosaicism in an unusual giant patient. Am J Med Genet 1999;83:100-108.
35. Candeliere GA, Roughley PJ, Glorieux FH. Polymerase chain reaction-based technique for the selective enrichment and analysis of mosaic arg201 mutations in G alpha s from patients with fibrous dysplasia of bone. Bone 1997;21:201-206.