PTCH1 mutations in odontogenic keratocysts: Are they related to epithelial cell proliferation?

Oral Oncology

Volumn 45, Issue 10, 2009, Pages 861-865

  Pan, Shuang ^a   Li, Tie Jun ^a  

^a PEKING UNIVERSITY SCHOOL AND HOSPITAL OF STOMATOLOGY   (China)

Author keywords

Cell proliferation; Ki67; Nevoid basal cell carcinoma syndrome; Odontogenic keratocyst; PTCH1

Indexed keywords

KI 67 ANTIGEN; PROTEIN PATCHED 1;

ADOLESCENT; ADULT; AGED; ARTICLE; BASAL CELL NEVUS SYNDROME; CELL PROLIFERATION; CLINICAL ASSESSMENT; COHORT ANALYSIS; CONTROLLED STUDY; EPITHELIUM CELL; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; HUMAN; IMMUNOHISTOCHEMISTRY; LABELING INDEX; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; ODONTOGENIC KERATOCYST; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; BASAL CELL NEVUS SYNDROME; CELL PROLIFERATION; CHILD; DNA MUTATIONAL ANALYSIS; EPITHELIAL CELLS; FEMALE; HUMANS; MALE; MIDDLE AGED; ODONTOGENIC CYSTS; RECEPTORS, CELL SURFACE; YOUNG ADULT;

EID: 70349206162     PISSN: 13688375     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.oraloncology.2009.02.003     Document Type: Article

References (28)

1. Browne R.M. The odontogenic keratocyst. Histological features and their correlation with clinical behavior. Br Dent J 131 (1971) 249-259
2. Li T.J., Brown R.M., and Matthews J.B. Expression of epidermal growth factor receptors by odontogenic jaw cysts. Virchows Arch A Pathol Anat Histopathol 432 (1993) 137-144
3. Li T.J., Browne R.M., and Matthews J.B. Quantification of PCNA+ cells within odontogenic jaw cyst epithelium. J Oral Pathol Med 23 (1994) 184-189
4. Woolgar J.A., Rippin J.W., and Browne R.M. The odontogenic keratocyst and its occurrence in the nevoid basal cell carcinoma syndrome. Oral Surg Oral Med Oral Pathol 64 (1987) 727-730
5. Gorlin R.J. Nevoid basal cell carcinoma (Gorlin) syndrome. Genet Med 6 (2004) 530-539
6. Gu X.M., Zhao H.S., Sun L.S., and Li T.J. PTCH mutations in sporadic and Gorlin-syndrome-related odontogenic keratocysts. J Dent Res 85 (2006) 859-863
7. Li T.J., Yuan J.W., Gu X.M., Sun L.S., Zhao H.S., et al. PTCH germline mutations in Chinese nevoid basal cell carcinoma syndrome patients. Oral Dis 14 (2008) 174-179
8. Sun L.S., Li X.F., and Li T.J. PTCH1 and SMO gene alterations in keratocystic odontogenic tumors. J Dent Res 87 (2008) 575-579
9. Barreto D.C., Gomez R.S., Bale A.E., Boson W.L., and De Marco L. PTCH gene mutations in odontogenic keratocysts. J Dent Res 79 (2000) 1418-1422
10. Ohki K., Kumamoto H., Ichinohasama R., Sato T., Takahashi N., and Ooya K. PTC Gene mutations and expression of SHH, PTC, SMO, and GLI-1 in odontogenic keratocysts. Int J Oral Maxillofac Surg 33 (2004) 584-592
11. Song Y.L., Zhang W.F., Peng B., Wang C.N., Wang Q., and Bian Z. Germline mutations of the PTCH gene in families with odontogenic keratocysts and nevoid basal cell carcinoma syndrome. Tumour Biol 27 (2006) 175-180
12. Stone D.M., Hynes M., Armanini M., Swanson T.A., Gu Q., Johnson R.L., et al. The tumour-suppressor gene patched encodes a candidate receptor for sonic hedgehog. Nature 384 (1996) 129-134
13. Yang Z.J., Ellis T., Markant S.L., Read T.A., Kessler J.D., Bourboulas M., Schüller U., et al. Medulloblastoma can be initiated by deletion of Patched in lineage-restricted progenitors or stem cells. Cancer Cell 14 (2008) 105-107
14. Chen X., Horiuchi A., Kikuchi N., Osada R., Yoshida J., Shiozawa T., et al. Hedgehog signal pathway is activated in ovarian carcinomas, correlating with cell proliferation: its inhibition leads to growth suppression and apoptosis. Cancer Sci 98 (2007) 68-76
15. Li T.J., Browne R.M., and Matthews J.B. Epithelial cell proliferation in odontogenic keratocysts: a comparative immunocytochemical study of Ki67 in simple, recurrent and basal cell naevus syndrome (BCNS)-associated lesions. J Oral Pathol Med 24 (1995) 221-226
16. Slootweg P.J. P53 protein and Ki-67 reactivity in epithelial odontogenic lesions. An immunohistochemical study. J Oral Pathol Med 24 (1995) 393-397
17. Li T.J., Browne R.M., Prime S.S., Paterson I.C., and Matthews J.B. P53 expression in odontogenic keratocyst epithelium. J Oral Pathol Med 25 (1996) 245-255
18. Barnes E.A., Heidtman K.J., and Donoghue D.J. Constitutive activation of the shh-ptc1 pathway by a patched1 mutation identified in BCC. Oncogene 24 (2005) 902-915
19. Calzada-Wack J., Schnitzbauer U., Walch A., Wurster K.H., Kappler R., Nathrath M., et al. Analysis of the PTCH coding region in human rhabdomyosarcoma. Hum Mutat 20 (2002) 233-234
20. Kimonis V.E., Goldstein A.M., Pastakia B., Yang M.L., Kase R., DiGiovanna J.J., et al. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 69 (1997) 299-308
21. Lindström E., Shimokawa T., Toftgård R., and Zaphiropoulos P.G. PTCH mutations: distribution and analyses. Hum Mutat 27 (2006) 215-219
22. Bale A.E., and Yu K.P. The hedgehog pathway and basal cell carcinomas. Hum Mol Genet 10 (2001) 757-762
23. Wicking C., Smyth I., and Bale A. The hedgehog signalling pathway in tumorigenesis and development. Oncogene 18 (1999) 7844-7851
24. EI Murtadi A., Grehan D., Toner M., and Mc Cartan B.E. Proliferation cell nuclear antigen staining in syndrome and nonsyndrome odontogenic keratocysts. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 81 (1996) 217-220
25. Lo Muzio L., Staibano S., Pannone G., Bucci P., Nocini P.F., Bucci E., et al. Expression of cell cycle and apoptosis-related proteins in sporadic odontogenic keratocysts and odontogenic keratocysts associated with the nevoid basal cell carcinoma syndrome. J Dent Res 78 (1999) 1345-1353
26. Wicking C., Shanley S., Smyth I., Gillies S., Negus K., Graham S., et al. Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. Am J Hum Genet 60 (1997) 21-26
27. Bailey E.C., Milenkovic L., Scott M.P., Collawn J.F., and Johnson R.L. Several PATCHED1 missense mutations display activity in patched1-deficient fibroblasts. J Biol Chem 277 (2002) 33632-33640
28. Bailey E.C., Zhou L., and Johnson R.L. Several human PATCHED1 mutations block protein maturation. Cancer Res 63 (2003) 1636-1638