Diagnostic value of investigating GNAS mutations in fibro-osseous lesions: A retrospective study of 91 cases of fibrous dysplasia and 40 other fibro-osseous lesions

Modern Pathology

Volumn 26, Issue 7, 2013, Pages 911-921

  Tabareau Delalande, Flore ^a   Collin, Christine ^a   Gomez Brouchet, Anne ^b   Decouvelaere, Anne Valérie ^c   Bouvier, Corinne ^d   Larousserie, Frédérique ^e   Marie, Béatrice ^f   Delfour, Christophe ^g   Aubert, Sébastien ^h   Rosset, Philippe ^a   De Muret, Anne ^a   Pagès, Jean Christophe ^a   De Pinieux, Gonzague ^a,i  

^a UNIVERSITÉ DE TOURS   (France)

^b CHU RANGUEIL   (France)

^c CENTRE LÉON BÉRARD   (France)

^d TIMONE HOSPITAL   (France)

^e Institut Cochin   (France)

^f UNIVERSITY HOSPITAL OF NANCY   (France)

^g DEPARTMENT OF NEUROLOGY   (France)

^h LILLE UNIVERSITY HOSPITAL   (France)

ⁱ UNIVERSITÉ DE NANTES   (France)

Author keywords

fibrous dysplasia; GNAS mutation; low grade osteosarcoma

Indexed keywords

GENOMIC DNA; GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT; BIOLOGICAL MARKER; GNAS PROTEIN, HUMAN; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN;

ADULT; AGED; ARTICLE; CHILD; CODON; DIAGNOSTIC VALUE; DNA SEQUENCE; FEMALE; FIBROUS DYSPLASIA; GENE MUTATION; HISTOPATHOLOGY; HUMAN; MAJOR CLINICAL STUDY; MALE; OSSIFYING FIBROMA; OSTEOSARCOMA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; SEX DIFFERENCE; ADOLESCENT; BONE DYSPLASIA; BONE TUMOR; GENETICS; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; RETROSPECTIVE STUDY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; YOUNG ADULT;

ADOLESCENT; ADULT; BIOLOGICAL MARKERS; BONE DISEASES, DEVELOPMENTAL; BONE NEOPLASMS; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; FIBROMA, OSSIFYING; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; MALE; MIDDLE AGED; MUTATION; OSTEOSARCOMA; RETROSPECTIVE STUDIES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; YOUNG ADULT;

EID: 84879995215     PISSN: 08933952     EISSN: 15300285     Source Type: Journal    
DOI: 10.1038/modpathol.2012.223     Document Type: Article

References (53)

1. Brannon RB, Fowler CB. Benign fibro-osseous lesions: A review of current concepts. Adv Anat Pathol 2001; 8:126-143.
2. Slootweg PJ. Lesions of the jaws. Histopathology 2009;54:401-418.
3. Campanacci M, Laus M. Osteofibrous dysplasia of the tibia and fibula. J Bone Joint Surg Am 1981;63: 367-375. (Pubitemid 11153666)
4. Slootweg PJ. Maxillofacial fibro-osseous lesions: Classification and differential diagnosis. Semin Diagn Pathol 1996;13:104-112. (Pubitemid 26149593)
5. Franceschina MJ, Hankin RC, Irwin RB. Low-grade central osteosarcoma resembling fibrous dysplasia. A report of two cases. Am J Orthop 1997;26:432-440.
6. Muramatsu K, Hashimoto T, Seto S, et al. Low-grade central osteosarcoma mimicking fibrous dysplasia: A report of two cases. Arch Orthop Trauma Surg 2008; 128:11-15. (Pubitemid 350055534)
7. Alawi F. Benign fibro-osseous diseases of the maxillofacial bones. A review and differential diagnosis. Am J Clin Pathol 2002;118(Suppl):S50-S70.
8. Lee J, Fitzgibbon E, Chen Y, et al. Clinical guidelines for the management of craniofacial fibrous dysplasia. Orphanet J Rare Dis 2012;7(Suppl 1):S2.
9. Dorfman HD. New knowledge of fibro-osseous lesions of bone. Int J Surg Pathol 2010;18(Suppl 3):S62-S65.
10. Eversole R, Su L, ElMofty S. Benign fibro-osseous lesions of the craniofacial complex. A review. Head Neck Pathol 2008;2:177-202.
11. 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.
12. Albright FBA, Hampton AO, Smith P. Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction with precocious puberty in females. N Engl J Med 1937;216: 727-746.
13. Lichtenstein L. Polyostotic fibrous dysplasia. Arch Surg 1938;36:874-879.
14. Lichtenstein L, Jaffe HL. Fibrous dysplasia of bone: A condition affecting one, several or many bones, the graver cases of which may present abnormal pigmentation of skin, premature sexual development, hyperthyroidism and still other extraskeletal abnormalities. Arch Pathol 1942;33:777-797.
15. Mazabraud A, Semat P, Roze R. [Apropos of the association of fibromyxomas of the soft tissues with fibrous dysplasia of the bones]. Presse Med 1967;75:2223-2228.
16. Szendroi M, Rahoty P, Antal I, et al. Fibrous dysplasia associated with intramuscular myxoma (Mazabraud's syndrome): A long-term follow-up of three cases. J Cancer Res Clin Oncol 1998;124:401-406. (Pubitemid 28366021)
17. Kabukcuoglu F, Kabukcuoglu Y, Yilmaz B, et al. Mazabraud's syndrome: Intramuscular myxoma associated with fibrous dysplasia. Pathol Oncol Res 2004;10:121-123. (Pubitemid 38915606)
18. Happle R. The McCune-Albright syndrome: A lethal gene surviving by mosaicism. Clin Genet 1986;29:321-324. (Pubitemid 16116576)
19. Bianco P, Kuznetsov SA, Riminucci M, et al. Reproduction of human fibrous dysplasia of bone in immunocompromised mice by transplanted mosaics of normal and Gsalpha-mutated skeletal progenitor cells. J Clin Invest 1998;101:1737-1744. (Pubitemid 28198504)
20. Robey PG, Kuznetsov S, Riminucci M, et al. The role of stem cells in fibrous dysplasia of bone and the Mccune-Albright syndrome. Pediatr Endocrinol Rev 2007;4(Suppl 4):386-394. (Pubitemid 47546976)
21. Okamoto S, Hisaoka M, Ushijima M, et al. Activating Gs(alpha) mutation in intramuscular myxomas with and without fibrous dysplasia of bone. Virchows Arch 2000;437:133-137. (Pubitemid 30623572)
22. Marie P. [Cellular and molecular biology of fibrous dysplasia]. Ann Pathol 2001;21:489-498. (Pubitemid 34101793)
23. Weinstein LS, Shenker A, Gejman PV, et al. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med 1991;325:1688-1695.
24. Schwindinger WF, Francomano CA, Levine MA. Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. Proc Natl Acad Sci USA 1992;89:5152-5156.
25. Shenker A, Weinstein LS, Sweet DE, et al. An activating Gs alpha mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome. J Clin Endocrinol Metab 1994;79:750-755.
26. Delaney D, Diss TC, Presneau N, et al. GNAS1 mutations occur more commonly than previously thought in intramuscular myxoma. Mod Pathol 2009;22:718-724.
27. Alman BA, Greel DA, Wolfe HJ. Activating mutations of Gs protein in monostotic fibrous lesions of bone. J Orthop Res 1996;14:311-315. (Pubitemid 26146004)
28. 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. (Pubitemid 27395408)
29. Gorelov VN, Dumon K, Barteneva NS, et al. Overexpression of Gs alpha subunit in thyroid tumors bearing a mutated Gs alpha gene. J Cancer Res Clin Oncol 1995;121:219-224.
30. Lietman SA, Ding C, Levine MA. A highly sensitive polymerase chain reaction method detects activating mutations of the GNAS gene in peripheral blood cells in McCune-Albright syndrome or isolated fibrous dysplasia. J Bone Joint Surg Am 2005;87:2489-2494. (Pubitemid 41546380)
31. Riminucci M, Fisher LW, Majolagbe A, et al. A novel GNAS1 mutation, R201 G, in McCune-albright syndrome. J Bone Miner Res 1999;14:1987-1989. (Pubitemid 29521795)
32. 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. (Pubitemid 46683929)
33. Marie PJ, de Pollak C, Chanson P, et al. Increased proliferation of osteoblastic cells expressing the activating Gs alpha mutation in monostotic and polyostotic fibrous dysplasia. Am J Pathol 1997;150:1059-1069.
34. Sakamoto A, Oda Y, Iwamoto Y, et al. A comparative study of fibrous dysplasia and osteofibrous dysplasia with regard to expressions of c-fos and c-jun products and bone matrix proteins: A clinicopathologic review and immunohistochemical study of c-fos, c-jun, type I collagen, osteonectin, osteopontin, and osteocalcin. Hum Pathol 1999;30:1418-1426. (Pubitemid 30032916)
35. Yamamoto T, Ozono K, Kasayama S, et al. Increased IL-6-production by cells isolated from the fibrous bone dysplasia tissues in patients with McCune-Albright syndrome. J Clin Invest 1996;98:30-35. (Pubitemid 26243817)
36. Sakamoto A, Oda Y, Iwamoto Y, et al. A comparative study of fibrous dysplasia and osteofibrous dysplasia with regard to Gsalpha mutation at the Arg201 codon: Polymerase chain reaction-restriction fragment length polymorphism analysis of paraffin-embedded tissues. J Mol Diagn 2000;2:67-72.
37. Toyosawa S, Yuki M, Kishino M, et al. Ossifying fibroma vs fibrous dysplasia of the jaw: Nolecular and immunological characterization. Mod Pathol 2007;20: 389-396. (Pubitemid 46348339)
38. 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. (Pubitemid 32758910)
39. Lee SE, Lee EH, Park H, et al. The diagnostic utility of the GNAS mutation in patients with fibrous dysplasia: Neta-analysis of 168 sporadic cases. Hum Pathol 2012;43:1234-1242.
40. 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.
41. 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.
42. DiCaprio MR, Enneking WF. Fibrous dysplasia. Pathophysiology, evaluation, and treatment. J Bone Joint Surg Am 2005;87:1848-1864. (Pubitemid 41061209)
43. Chapurlat RD, Orcel P. Fibrous dysplasia of bone and McCune-Albright syndrome. Best Pract Res Clin Rheumatol 2008;22:55-69. (Pubitemid 351336924)
44. 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. (Pubitemid 30026939)
45. Shenker A, Weinstein LS, Moran A, et al. Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein GS. J Pediatr 1993;123:509-518. (Pubitemid 23287518)
46. Shenker A. Chanson P, Weinstein LS, et al. Osteoblastic cells derived from isolated lesions of fibrous dysplasia contain activating somatic mutations of the Gs alpha gene. Hum Mol Genet 1995;4:1675-1676.
47. 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. (Pubitemid 27527922)
48. Weinstein LS. G(s)alpha mutations in fibrous dysplasia and McCune-Albright syndrome. J Bone Miner Res 2006;21(Suppl 2):S120-S124.
49. 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.
50. Sissons HA, Malcolm AJ. Fibrous dysplasia of bone: Case report with autopsy study 80 years after the original clinical recognition of the bone lesions. Skeletal Radiol 1997;26:177-183. (Pubitemid 27143986)
51. Ogino S, Kawasaki T, Brahmandam M, et al. Sensitive sequencing method for KRAS mutation detection by Pyrosequencing. J Mol Diagn 2005;7:413-421. (Pubitemid 41149657)
52. Alers JC, Krijtenburg PJ, Vissers KJ, et al. Effect of bone decalcification procedures on DNA in situ hybridization and comparative genomic hybridization. EDTA is highly preferable to a routinely used acid decalcifier. J Histochem Cytochem 1999;47:703-710.
53. Reineke T, Jenni B, Abdou MT, et al. Ultrasonic decalcification offers new perspectives for rapid FISH, DNA, and RT-PCR analysis in bone marrow trephines. Am J Surg Pathol 2006;30:892-896. (Pubitemid 44264981)