Analysis of GNAS mutations in cemento-ossifying fibromas and cemento-osseous dysplasias of the jaws

Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontology

Volumn 109, Issue 5, 2010, Pages 739-743

  Patel, Milan M ^a   Wilkey, Jonathan F ^a   Abdelsayed, Rafik ^b   D'Silva, Nisha J ^c,d   Malchoff, Carl ^e   Mallya, Sanjay M ^f  

^a UNIVERSITY OF CONNECTICUT SCHOOL OF DENTAL MEDICINE   (United States)

^b MEDICAL COLLEGE OF GEORGIA   (United States)

^c UNIVERSITY OF MICHIGAN SCHOOL OF DENTISTRY   (United States)

^d UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^e UNIVERSITY OF CONNECTICUT SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; DNA; GNAS PROTEIN, HUMAN; HISTIDINE; PRIMER DNA; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN;

ARTICLE; CODON; DNA SEQUENCE; FIBROUS DYSPLASIA; GENE FREQUENCY; GENETICS; HUMAN; JAW TUMOR; MUTATION; ODONTOGENIC TUMOR; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ARGININE; CEMENTOMA; CODON; DNA PRIMERS; DNA, NEOPLASM; FIBROUS DYSPLASIA OF BONE; GENE FREQUENCY; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HISTIDINE; HUMANS; JAW NEOPLASMS; MUTATION; ODONTOGENIC TUMORS; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SEQUENCE ANALYSIS, DNA;

EID: 77951024494     PISSN: 10792104     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.tripleo.2009.12.016     Document Type: Article

References (22)

1. Waldron C.A. Fibro-osseous lesions of the jaws. J Oral Maxillofac Surg 51 8 (1993) 828-835
2. Slootweg P.J. Lesions of the jaws. Histopathology 54 4 (2008) 401-418
3. Weinstein L.S. G(s)alpha mutations in fibrous dysplasia and McCune-Albright syndrome. J Bone Miner Res 21 Suppl 2 (2006) P120-P124
4. Hart E.S., Kelly M.H., Brillante B., Chen C.C., Ziran N., Lee J.S., et al. Onset, progression, and plateau of skeletal lesions in fibrous dysplasia and the relationship to functional outcome. J Bone Miner Res 22 9 (2007) 1468-1474
5. DiCaprio M.R., and Enneking W.F. Fibrous dysplasia. Pathophysiology, evaluation, and treatment. J Bone Joint Surg 87 8 (2005) 1848-1864
6. Chapurlat R.D. Medical therapy in adults with fibrous dysplasia of bone. J Bone Miner Res 21 Suppl 2 (2006) P114-P119
7. Carpten J.D., Robbins C.M., Villablanca A., Forsberg L., Presciuttini S., Bailey-Wilson J., et al. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet 32 4 (2002) 676-680
8. Sissons H.A., Steiner G.C., and Dorfman H.D. Calcified spherules in fibro-osseous lesions of bone. Arch Pathol Lab Med 117 3 (1993) 284-290
9. Voytek T.M., Ro J.Y., Edeiken J., and Ayala A.G. Fibrous dysplasia and cemento-ossifying fibroma. A histologic spectrum. Am J Surg Pathol 19 7 (1995) 775-781
10. Weinstein L.S., Shenker A., Gejman P.V., Merino M.J., Friedman E., and Spiegel A.M. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med 325 24 (1991) 1688-1695
11. Bianco P., Riminucci M., Majolagbe A., Kuznetsov S.A., Collins M.T., Mankani M.H., 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 15 1 (2000) 120-128
12. Hasselblatt M., Jundt G., Greiner C., Rama B., Schmal F., Iglesias-Rozas J.R., et al. Juvenile psammomatoid ossifying fibroma of the neurocranium. Report of four cases. J Neurosurg 102 6 (2005) 1151-1154
13. Toyosawa S., Yuki M., Kishino M., Ogawa Y., Ueda T., Murakami S., et al. Ossifying fibroma vs fibrous dysplasia of the jaw: molecular and immunological characterization. Mod Pathol 20 3 (2007) 389-396
14. Malchoff C.D., Reardon G., MacGillivray D.C., Yamase H., Rogol A.D., and Malchoff D.M. An unusual presentation of McCune-Albright syndrome confirmed by an activating mutation of the Gs alpha-subunit from a bone lesion. J Clin Endocrinol Metab 78 3 (1994) 803-806
15. Isola J., DeVries S., Chu L., Ghazvini S., and Waldman F. Analysis of changes in DNA sequence copy number by comparative genomic hybridization in archival paraffin-embedded tumor samples. Am J Pathol 145 6 (1994) 1301-1308
16. Candeliere G.A., Roughley P.J., and Glorieux F.H. 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 21 2 (1997) 201-206
17. Collins M.T., Sarlis N.J., Merino M.J., Monroe J., Crawford S.E., Krakoff J.A., et al. Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations. J Clin Endocrinol Metab 88 9 (2003) 4413-4417
18. Karadag A., Riminucci M., Bianco P., Cherman N., Kuznetsov S.A., Nguyen N., 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 32 7 (2004) e63
19. Riminucci M., Collins M.T., Corsi A., Boyde A., Murphey M.D., Wientroub S., et al. Gnathodiaphyseal dysplasia: a syndrome of fibro-osseous lesions of jawbones, bone fragility, and long bone bowing. J Bone Miner Res 16 9 (2001) 1710-1718
20. Braccini F., Bacciu A., Bruzzo M., Pech-Gourg F., and Thomassin J.M. Craniofacial fibrous dysplasia associated with primary hyperparathyroidism. Acta Biomed Ateneo Parmense 70 1-2 (1999) 5-11
21. Kim S.J., Seok J.W., Kim I.J., Kim Y.K., Jung D.S., and Kim D.S. Fibrous dysplasia associated with primary hyperparathyroidism in the absence of the McCune-Albright syndrome: Tc-99m MIBI and Tc-99m MDP findings. Clin Nucl Med 28 5 (2003) 416-418
22. Cavaco B.M., Barros L., Pannett A.A., Ruas L., Carvalheiro M., Ruas M.M., et al. The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred. QJM 94 4 (2001) 213-222