Involvement of PTCH1 mutations in the calcifying epithelial odontogenic tumor

Oral Oncology

Volumn 46, Issue 5, 2010, Pages 387-392

  Peacock, Zachary S ^a   Cox, Darren ^a   Schmidt, Brian L ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Calcifying epithelial odontogenic tumor; Gli1; Gli2; Immunohistochemistry; PTCH1; Sequencing; SHH

Indexed keywords

PROTEIN PATCHED 1; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR GLI1; TRANSCRIPTION FACTOR GLI2;

ARTICLE; CALCIFYING EPITHELIAL ODONTOGENIC TUMOR; CONTROLLED STUDY; DNA EXTRACTION; DROSOPHILA; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IMMUNOREACTIVITY; JAW TUMOR; ODONTOGENIC TUMOR; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SALIVARY GLAND; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR CALCINOSIS; TUMOR SUPPRESSOR GENE;

FEMALE; GENES, TUMOR SUPPRESSOR; HUMANS; MALE; MUTATION; ODONTOGENIC CYST, CALCIFYING; RECEPTORS, CELL SURFACE;

EID: 77950866641     PISSN: 13688375     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.oraloncology.2010.02.023     Document Type: Article

References (60)

1. Pindborg J.J. Calcifying epithelial odontogenic tumour. Acta Pathol Microbiol Scand 111 (1955) 71
2. Ai-Ru L., Zhen L., and Jian S. Calcifying epithelial odontogenic tumors: a clinicopathologic study of nine cases. J Oral Pathol 11 5 (1982) 399-406
3. Goode R.K. Calcifying epithelial odontogenic tumor. Oral Maxillofac Surg Clin North Am 16 3 (2004) 323-331
4. Smith R.A., Roman R.S., Hansen L.S., Lundell W.J., and Riley R.W. The calcifying epithelial odontogenic tumor. J Oral Surg 35 (1977) 160-166
5. Marx RE, Stern D. Oral and maxillofacial pathology: a rationale for diagnosis and treatment. Chicago: Quintessence; 2003.
6. Patino B., Fernandez-Alba J., Garcia-Rozado A., Martin R., Lopez-Cedrun J.L., and Sanroman B. Calcifying epithelial odontogenic (pindborg) tumor: a series of 4 distinctive cases and a review of the literature. J Oral Maxillofac Surg 63 9 (2005) 1361-1368
7. Hammerschmidt M., Brook A., and McMahon A.P. The world according to hedgehog. Trends Genet 13 1 (1997) 14-21
8. Hardcastle Z., Hui C.C., and Sharpe P.T. The Shh signalling pathway in early tooth development. Cell Mol Biol (Noisy-le-grand) 45 5 (1999) 567-578
9. Dassule H.R., Lewis P., Bei M., Maas R., and McMahon A.P. Sonic hedgehog regulates growth and morphogenesis of the tooth. Development 127 22 (2000) 4775-4785
10. Cobourne M.T., Hardcastle Z., and Sharpe P.T. Sonic hedgehog regulates epithelial proliferation and cell survival in the developing tooth germ. J Dent Res 80 11 (2001) 1974-1979
11. Jernvall J., and Thesleff I. Reiterative signaling and patterning during mammalian tooth morphogenesis. Mech Dev 92 1 (2000) 19-29
12. Hahn H., Wicking C., Zaphiropoulous P.G., Gailani M.R., Shanley S., Chidambaram A., et al. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 85 6 (1996) 841-851
13. 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 6 (2000) 1418-1422
14. Aszterbaum M., Rothman A., Johnson R.L., Fisher M., Xie J., Bonifas J.M., et al. Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome. J Invest Dermatol 110 6 (1998) 885-888
15. Gailani M.R., Stahle-Backdahl M., Leffell D.J., Glynn M., Zaphiropoulos P.G., Pressman C., et al. The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas. Nat Genet 14 1 (1996) 78-81
16. Dong J., Gailani M.R., Pomeroy S.L., Reardon D., and Bale A.E. Identification of PATCHED mutations in medulloblastomas by direct sequencing. Hum Mutat 16 1 (2000) 89-90
17. Wicking C., Smyth I., and Bale A. The hedgehog signalling pathway in tumorigenesis and development. Oncogene 18 55 (1999) 7844-7851
18. Lee J., Platt K.A., Censullo P., and Ruiz i Altaba A. Gli1 is a target of Sonic hedgehog that induces ventral neural tube development. Development 124 13 (1997) 2537-2552
19. Tojo M., Kiyosawa H., Iwatsuki K., Nakamura K., and Kaneko F. Expression of the GLI2 oncogene and its isoforms in human basal cell carcinoma. Br J Dermatol 148 5 (2003) 892-897
20. Wicking C., Gillies S., Smyth I., Shanley S., Fowles L., Ratcliffe J., 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 1 (1997) 21-26
21. Xie J., Murone M., Luoh S.M., Ryan A., Gu Q., Zhang C., et al. Activating Smoothened mutations in sporadic basal-cell carcinoma. Nature 391 6662 (1998) 90-92
22. Zedan W., Robinson P.A., Markham A.F., and High A.S. Expression of the Sonic Hedgehog receptor "PATCHED" in basal cell carcinomas and odontogenic keratocysts. J Pathol 194 4 (2001) 473-477
23. Unden A.B., Holmberg E., Lundh-Rozell B., Stahle-Backdahl M., Zaphiropoulos P.G., Toftgard R., et al. Mutations in the human homologue of Drosophila patched (PTCH) in basal cell carcinomas and the Gorlin syndrome: different in vivo mechanisms of PTCH inactivation. Cancer Res 56 20 (1996) 4562-4565
24. Macabeo-Ong M., Ginzinger D.G., Dekker N., McMillan A., Regezi J.A., Wong D.T., et al. Effect of duration of fixation on quantitative reverse transcription polymerase chain reaction analyses. Mod Pathol 15 9 (2002) 979-987
25. Gentra Puregene Handbook. 2nd ed. Valencia, CA: Qiagen, Inc.; 2007. p. 43.
26. Power SYBR® Green PCR Master Mix and RT-PCR. Applied Biosystems, Foster City, CA; 2006. Available from: http://www3.appliedbiosystems.com/cms/groups/mcb_support/documents/generaldocuments/cms_042179.pdf.
27. Probe - Reagents for Functional Genomics. Available from: http://www.ncbi.nlm.nih.gov/probe.
28. Lindstrom E., Shimokawa T., Toftgard R., and Zaphiropoulos P.G. PTCH mutations: distribution and analyses. Hum Mutat 27 3 (2006) 215-219
29. Echelard Y., Epstein D.J., St-Jacques B., Shen L., Mohler J., McMahon J.A., et al. Sonic hedgehog, a member of a family of putative signaling molecules, is implicated in the regulation of CNS polarity. Cell 75 7 (1993) 1417-1430
30. Johnson R.L., Rothman A.L., Xie J., Goodrich L.V., Bare J.W., Bonifas J.M., et al. Ectopic expression of Sonic hedgehog alters dorsal-ventral patterning of somites. Cell 79 7 (1994) 1165-1173
31. Riddle R.D., Johnson R.L., Laufer E., and Tabin C. Sonic hedgehog mediates the polarizing activity of the ZPA. Cell 75 7 (1993) 1401-1416
32. Bellusci S., Furuta Y., Rush M.G., Henderson R., Winnier G., and Hogan B.L. Involvement of Sonic hedgehog (Shh) in mouse embryonic lung growth and morphogenesis. Development 124 1 (1997) 53-63
33. Hardcastle Z., Mo R., Hui C.C., and Sharpe P.T. The Shh signalling pathway in tooth development: defects in Gli2 and Gli3 mutants. Development 125 15 (1998) 2803-2811
34. Kumamoto H., Ohki K., and Ooya K. Expression of Sonic hedgehog (SHH) signaling molecules in ameloblastoma. J Oral Pathol Med 33 3 (2004) 185-190
35. Johnson R.L., Rothman A.L., Xie J., Goodrich L.V., Bare J.W., Bonifas J.M., et al. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 272 5268 (1996) 1668-1671
36. Gorlin R.J. Nevoid basal cell carcinoma syndrome. Dermatol Clin 13 1 (1995) 113-125
37. High A., and Zedan W. Basal cell nevus syndrome. Curr Opin Oncol 17 2 (2005) 160-166
38. Levanat S., Pavelic B., Crnic I., Oreskovic S., and Manojlovic S. Involvement of PTCH gene in various noninflammatory cysts. J Mol Med 78 3 (2000) 140-146
39. Barreto D.C., Bale A.E., De Marco L., and Gomez R.S. Immunolocalization of PTCH protein in odontogenic cysts and tumors. J Dent Res 81 11 (2002) 757-760
40. Lench N.J., High A.S., Markham A.F., Hume W.J., and Robinson P.A. Investigation of chromosome 9q22.3-q31 DNA marker loss in odontogenic keratocysts. Eur J Cancer B Oral Oncol 32B 3 (1996) 202-206
41. Agaram N.P., Collins B.M., Barnes L., Lomago D., Aldeeb D., Swalsky P., et al. Molecular analysis to demonstrate that odontogenic keratocysts are neoplastic. Arch Pathol Lab Med 128 3 (2004) 313-317
42. Reifenberger J., Wolter M., Knobbe C.B., Kohler B., Schonicke A., Scharwachter C., et al. Somatic mutations in the PTCH, SMOH, SUFUH and TP53 genes in sporadic basal cell carcinomas. Br J Dermatol 152 1 (2005) 43-51
43. Zhang L., Chen X.M., Sun Z.J., Bian Z., Fan M.W., and Chen Z. Epithelial expression of SHH signaling pathway in odontogenic tumors. Oral Oncol 42 4 (2006) 398-408
44. Walker R.A. Quantification of immunohistochemistry - issues concerning methods, utility and semiquantitative assessment I. Histopathology 49 4 (2006) 406-410
45. Kimura H., Stephen D., Joyner A., and Curran T. Gli1 is important for medulloblastoma formation in Ptc1+/- mice. Oncogene 24 25 (2005) 4026-4036
46. Mori Y., Okumura T., Tsunoda S., Sakai Y., and Shimada Y. Gli-1 expression is associated with lymph node metastasis and tumor progression in esophageal squamous cell carcinoma. Oncology 70 5 (2006) 378-389
47. Gerber A.N., Wilson C.W., Li Y.J., and Chuang P.T. The hedgehog regulated oncogenes Gli1 and Gli2 block myoblast differentiation by inhibiting MyoD-mediated transcriptional activation. Oncogene 26 8 (2007) 1122-1136
48. Kasper M., Regl G., Frischauf A.M., and Aberger F. GLI transcription factors: mediators of oncogenic Hedgehog signalling. Eur J Cancer 42 4 (2006) 437-445
49. Unden A.B., Zaphiropoulos P.G., Bruce K., Toftgard R., and Stahle-Backdahl M. Human patched (PTCH) mRNA is overexpressed consistently in tumor cells of both familial and sporadic basal cell carcinoma. Cancer Res 57 12 (1997) 2336-2340
50. Smyth I., Wicking C., Wainwright B., and Chenevix-Trench G. The effects of splice site mutations in patients with naevoid basal cell carcinoma syndrome. Hum Genet 102 5 (1998) 598-601
51. Rahnama F., Toftgard R., and Zaphiropoulos P.G. Distinct roles of PTCH2 splice variants in Hedgehog signalling. Biochem J 378 Pt 2 (2004) 325-334
52. Fan Z., Li J., Du J., Zhang H., Shen Y., Wang C.Y., et al. A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family. J Med Genet 45 5 (2008) 303-308
53. Lee Y., Miller H.L., Russell H.R., Boyd K., Curran T., and McKinnon P.J. Patched2 modulates tumorigenesis in patched1 heterozygous mice. Cancer Res 66 14 (2006) 6964-6971
54. Hicks M.J., Flaitz C.M., Wong M.E., McDaniel R.K., and Cagle P.T. Clear cell variant of calcifying epithelial odontogenic tumor: case report and review of the literature. Head Neck 16 3 (1994) 272-277
55. Shear M. The aggressive nature of the odontogenic keratocyst: is it a benign cystic neoplasm? Part 2. Proliferation and genetic studies. Oral Oncol 38 4 (2002) 323-331
56. Kubo M., Nakamura M., Tasaki A., Yamanaka N., Nakashima H., Nomura M., et al. Hedgehog signaling pathway is a new therapeutic target for patients with breast cancer. Cancer Res 64 17 (2004) 6071-6074
57. Bar E.E., Chaudhry A., Lin A., Fan X., Schreck K., Matsui W., et al. Cyclopamine-mediated hedgehog pathway inhibition depletes stem-like cancer cells in glioblastoma. Stem Cells 25 10 (2007) 2524-2533
58. Yanai K., Nagai S., Wada J., Yamanaka N., Nakamura M., Torata N., et al. Hedgehog signaling pathway is a possible therapeutic target for gastric cancer. J Surg Oncol 95 1 (2007) 55-62
59. Taipale J., Chen J.K., Cooper M.K., Wang B., Mann R.K., Milenkovic L., et al. Effects of oncogenic mutations in Smoothened and Patched can be reversed by cyclopamine. Nature 406 6799 (2000) 1005-1009
60. Garber K. Hedgehog drugs begin to show results. J Natl Cancer Inst 100 10 (2008) 692-697