Ameloblastoma: A neglected criterion for nevoid basal cell carcinoma (Gorlin) syndrome

Familial Cancer

Volumn 11, Issue 3, 2012, Pages 411-418

  Ponti, Giovanni ^a   Pastorino, Lorenza ^b   Pollio, Annamaria ^c   Nasti, Sabina ^b   Pellacani, Giovanni ^a   Mignogna, Michele D ^c   Tomasi, Aldo ^a   Del Forno, Corrado ^a   Longo, Caterina ^d   Bianchi Scarrà, Giovanna ^b,e   Ficarra, Guido ^a   Seidenari, Stefania ^a  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^d S MARIA NUOVA HOSPITAL   (Italy)

^e UNIVERSITY OF GENOA   (Italy)

Author keywords

Ameloblastoma; Gorlin syndrome; Keratocystic odontogenic tumors; Nevoid basal cell carcinoma syndrome; PTCH1

Indexed keywords

ADOLESCENT; ADULT; AGED; AMELOBLASTOMA; ARTICLE; BASAL CELL NEVUS SYNDROME; CLINICAL ARTICLE; DISEASE ASSOCIATION; FEMALE; GENE MUTATION; GENETIC RISK; HEREDITY; HUMAN; MALE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AMELOBLASTOMA; BASAL CELL NEVUS SYNDROME; FAMILY; FEMALE; GERM-LINE MUTATION; HUMANS; JAW NEOPLASMS; MALE; MIDDLE AGED; ODONTOGENIC CYSTS; ODONTOGENIC TUMORS; RECEPTORS, CELL SURFACE; YOUNG ADULT;

EID: 84870475904     PISSN: 13899600     EISSN: 15737292     Source Type: Journal    
DOI: 10.1007/s10689-012-9529-3     Document Type: Article

References (40)

1. Sciubba JJ, Fantasia JE, Kahn LB et al (2001) Tumors and cysts of the jaw. Armed Forces Institute of Pathology, Washinton, pp 71-79
2. Daley TD, Wysocki GP, Pringle GA (1994) Relative incidence of odontogenic tumors and oral and jaw cysts in a Canadian population. Oral Surg Oral Med Oral Pathol 77(3):276-280
3. Regezi JA, Kerr DA, Courtney RM (1978) Odontogenic tumors: analysis of 706 cases. J Oral Surg 36(10):771-778
4. Gorlin RJ (1995) Nevoid basal cell carcinoma syndrome. Dermatol Clin 13:113-125
5. Evans DG, Ladusans EJ, Rimmer S, Burnell LD, Thakker N, Farndon PA (1993) Complication of naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet 30:460-464
6. Pastorino L, Cusano R, Nasti S et al (2005) Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients. Hum Mutat 25:322-323
7. Stone DM, Hynes M, Armanini M et al (1996) The tumoursuppressor gene patched encodes a candidate receptor for Sonic hedgehog. Nature 384:129-134
8. Kimonis VE, Goldstein AM, Pastakia B et al (1997) Clinical manifestation in 105 person with nevoid basal cell carcinoma syndrome. Am J Med Genet 69:299-308
9. Evans DG, Farndon PA (2002) Nevoid basal cell carcinoma syndrome. In: pagon RA, Bird TD, Dolan cr, Stephens k (eds) Gene Reviews (Internet). University of Washington, seattle; 1993-2002 Jun 20 (update 2020 Jul 22)
10. Bree AF, Shah MR (2011) BCNS Colloquium Group. Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS). Am J Med Genet A 155A(9): 2091-2097. doi:10.1002/ajmg.a.34128. Epub 2011 Aug 10
11. Gorlin RJ, Yunis JJ, Tuna N (1963) Multiple nevoid basal cell carcinoma, odontogenic keratocysts and skeletal anomalies. Syndrome. Acta Derm-Venerol (Stockh.) 43:39-55
12. Ponti G, Pollio A, Mignogna MD et al (2012) Unicystic ameloblastoma associated with the K729 M PTCH1 mutation in a patient with nevoid basal cell Carcinoma (Gorlin) syndrome. Cancer Genet (in press)
13. Hardcastle Z, Mo R, Hui CC, Sharpe PT (1998) The Shh signalling pathway in tooth development: defects in Gli2 and Gli3 mutants. Development 125(15):2803-2811
14. Dassule HR, Lewis P, Bei M, Maas R, McMahon AP (2000) Sonic hedgehog regulates growth and morphogenesis of the tooth. Development 127:4775-4785
15. Lo Muzio L, Nocini P, Bucci P, Pannone G, Consolo U, Procaccini M (1995) Early diagnosis of nevoid basal cell carcinoma syndrome. Dermatol Clin 13:113-125
16. Leonardi R, Sorge G, Caltabino M (2001) Bilateral hyperplasia of the mandibular coronoid processes associated with the nevoid basal cell carcinoma syndrome in an Italian boy. Br Dent J 190:349-350
17. Leonardi R, Caltabino M, Lo Muzio L et al (2002) Bilateral hyperplasia of the mandibular coronoid processes in patients with nevoid basal cell carcinoma syndrome: an undescribed sign. Am J Med Genet 110:400-403
18. Gorlin RJ, Vickers RA, Kelin E, Williamon J (1965) The multiple basal-cell nevi syndrome. Cancer 18:89-104
19. Pincock LD (1970) Zit. Nach Vickers RA u. Gorlin RJ. Cancer (Philad.) 26:699
20. Thoma KH (1959) Polycystoma. Oral Surg 12:484-488
21. Davidson F (1962) Multiple naevoid basal cell carcinomata and associated congenital abnormalities. Brit J Derm 74:439-444
22. Maddox WD, Winkelmann RK, Harrison EG, Devine KD, Gibilisco JA (1964) Multiple nevoid basal cell epitheliomas, jaw cysts, and skeletal defects. JAMA 188:98-103
23. Rosental W (1962) Die fakultativen Prakanzerosen. Dtsch Stomat 12:653-663
24. Block JB, Clendenning WE (1997) Parathyroid hormone hyporesponsiveness in patients with basal-cell nevi and bone defects. N Engl J Med Genet 69:229-308
25. Pollard JJ, New PFJ (1964) Hereditary Cutaneomandibular polyoncosis. Radiology 82:840
26. Koedel G (1965) Uber Entstehung, pathogenetische Wertigkeit und Differentialdiagnose: multiple Zysten - multilokulare Zystenbildung-Polyzystom der Kiefer. Dtsch Stomat 15:324-336
27. Formas I (1967) Nevobasiloma. Z Haut Geschlechtskr 42(5): 131-140
28. Happle R (1973) Naevobasaliom und Ameloblastom. Hautarzt 24:290-294
29. Jensen MF, Roser SM (1978) Gorlin's syndrome with ameloblastoma. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 45:325-326
30. Schultz SM, Twickler DM, Wheeler DE, Hogan TD (1987) Ameloblastoma associated with basal cell nevus (Gorlin) syndrome: CT findings. J Comput Assist Tomogr 11:901-904
31. Eslami B, Lorente C, Kieff D et al (2008) Ameloblastoma associated with the nevoid basal cell carcinoma (Gorlin) syndrome. OralSurg Oral Med Oral Pathol Oral RadiolEndod 105:e10-e13
32. De Domingo B, Gonzalez F, Lorenzo P (2008) Gorlin syndrome (nevoid basal cell carcinoma syndrome). Arch Soc Esp Oftalmol 83:321-324
33. Peterson WC Jr, Gorlin RJ (1964) Possible analogous cutaneous and odontogenic tumors. Arch Dermatol 90:255-261
34. Gorlin RJ, Chaudhry AP, Pindborg JJ (1961) Odontogenic tumors. Classification, histopathology, and clinical behavior in man and domesticated animals. Cancer 14:73-101
35. Gorlin RJ, Sedano HO (1971) Birth Defects. Original Article Series 7:140
36. Vickers RA, Gorlin RJ (1970) Ameloblastoma: delineation of early histopathologic features of neoplasia. Cancer 26:699-710
37. Pindborg JJ, Hansen J (1963) Studies on odontogenic cyst epithelium. Clinical and roentgenologic aspects of odontogenic keratocysts. Acta Path Microbiol Scand 58:283-294
38. Machtens E, Hjorting-Hansen E, Schmallenbach HJ, Werz L (1972) Keratocyst-ameloblastoma, a clinical diagnostic problem. Dtsch Zahn Mund u. Kieferheilk 58:157-165
39. Levanat S, Gorlin RJ, Fallet S, Johnson DR, Fantasia JE, Bale AE (1996) A two-hit model for developmental defects in Gorlin syndrome. Nat Genet 12(1):85-87
40. Lench NJ, High AS, Markham AF, Hume WJ, Robinson PA (1996) Investigation of chromosome 9 q22.3-q31 DNA marker loss in odontogenic keratocysts. Eur J Cancer B Oral Oncol 32B(3):202-206