Skip to main content

Advertisement

SpringerLink
Log in

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

  • Original Article
  • Published:
Familial Cancer Aims and scope Submit manuscript

Abstract

Ameloblastomas are considered to be aggressive and locally invasive neoplasms derived from odontogenic epithelium with a tendency for recurrence and bone destruction. Although the relationship between nevoid basal cell carcinoma syndrome (NBCCS) and ameloblastoma is less frequent, it might constitute a peculiar stigmata of this hereditary disorder. The objective of the current study was to evaluate whether a combined clinical and biomolecular approach could be useful for the identification of NBCCS among patients with a diagnosis of ameloblastoma. The authors collected ameloblastoma tumors recorded in the databases of the Pathology Departments of the University of Modena during the period 1991–2011. Family trees were drawn for all 41 patients affected by these specific odontogenic tumors. Two patients with ameloblastoma were also affected by multiple basal cell carcinomas and odontogenic keratocysts tumors (OKCTs) achieving the requested clinical criteria for the diagnosis of NBCCS. The clinical diagnoses were confirmed by the identification of two different novel PTCH1 germline mutations (c.2186A > T [p.K729 M]; c.931insA) in those unrelated patients. Clinical ameloblastoma findings can be used as screening for the identification of families at risk of NBCCS. Ameloblastomas diagnosis warrants the search for associated cutaneous basal cell carcinomas and other benign and malignant tumors related to NBCCS. Thus, we propose the inclusion of ameloblasoma as criterion for the identification of NBCCS.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3

Similar content being viewed by others

References

  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

    Google Scholar 

  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

    Article  PubMed  CAS  Google Scholar 

  3. Regezi JA, Kerr DA, Courtney RM (1978) Odontogenic tumors: analysis of 706 cases. J Oral Surg 36(10):771–778

    PubMed  CAS  Google Scholar 

  4. Gorlin RJ (1995) Nevoid basal cell carcinoma syndrome. Dermatol Clin 13:113–125

    PubMed  CAS  Google Scholar 

  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

    Article  PubMed  CAS  Google Scholar 

  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

    Article  PubMed  CAS  Google Scholar 

  7. Stone DM, Hynes M, Armanini M et al (1996) The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog. Nature 384:129–134

    Article  PubMed  CAS  Google Scholar 

  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

    Article  PubMed  CAS  Google Scholar 

  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

    CAS  Google Scholar 

  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

    PubMed  CAS  Google Scholar 

  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

    PubMed  CAS  Google Scholar 

  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

    Google Scholar 

  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

    PubMed  CAS  Google Scholar 

  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

    Article  PubMed  Google Scholar 

  18. Gorlin RJ, Vickers RA, Kelin E, Williamon J (1965) The multiple basal-cell nevi syndrome. Cancer 18:89–104

    Article  PubMed  CAS  Google Scholar 

  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

    Article  PubMed  CAS  Google Scholar 

  21. Davidson F (1962) Multiple naevoid basal cell carcinomata and associated congenital abnormalities. Brit J Derm 74:439–444

    Article  PubMed  CAS  Google Scholar 

  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

    Article  Google Scholar 

  23. Rosental W (1962) Die fakultativen Prakanzerosen. Dtsch Stomat 12:653–663

    Google Scholar 

  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

    Google Scholar 

  25. Pollard JJ, New PFJ (1964) Hereditary Cutaneomandibular polyoncosis. Radiology 82:840

    PubMed  CAS  Google Scholar 

  26. Koedel G (1965) Uber Entstehung, pathogenetische Wertigkeit und Differentialdiagnose: multiple Zysten – multilokulare Zystenbildung-Polyzystom der Kiefer. Dtsch Stomat 15:324–336

    Google Scholar 

  27. Formas I (1967) Nevobasiloma. Z Haut Geschlechtskr 42(5):131–140

    PubMed  CAS  Google Scholar 

  28. Happle R (1973) Naevobasaliom und Ameloblastom. Hautarzt 24:290–294

    PubMed  CAS  Google Scholar 

  29. Jensen MF, Roser SM (1978) Gorlin’s syndrome with ameloblastoma. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 45:325–326

    CAS  Google Scholar 

  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

    Article  PubMed  CAS  Google Scholar 

  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

    Google Scholar 

  32. De Domingo B, Gonzalez F, Lorenzo P (2008) Gorlin syndrome (nevoid basal cell carcinoma syndrome). Arch Soc Esp Oftalmol 83:321–324

    Google Scholar 

  33. Peterson WC Jr, Gorlin RJ (1964) Possible analogous cutaneous and odontogenic tumors. Arch Dermatol 90:255–261

    Article  PubMed  Google Scholar 

  34. Gorlin RJ, Chaudhry AP, Pindborg JJ (1961) Odontogenic tumors. Classification, histopathology, and clinical behavior in man and domesticated animals. Cancer 14:73–101

    Article  PubMed  CAS  Google Scholar 

  35. Gorlin RJ, Sedano HO (1971) Birth Defects. Original Article Series 7:140

    CAS  Google Scholar 

  36. Vickers RA, Gorlin RJ (1970) Ameloblastoma: delineation of early histopathologic features of neoplasia. Cancer 26:699–710

    Article  PubMed  CAS  Google Scholar 

  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

    Article  PubMed  CAS  Google Scholar 

  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

    CAS  Google Scholar 

  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

    Article  PubMed  CAS  Google Scholar 

  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

    Article  PubMed  CAS  Google Scholar 

Download references

Acknowledgments

The authors would like to thank Silvana Ciardo, Cristel Ruini, Luca Fabiani and Carmelo Guarneri for their participation in the study.

Conflict of interest

The authors state no conflict of interest.

Author information

Authors and Affiliations

  1. Department of Head and Neck Surgery, University of Modena and Reggio Emilia, via del Pozzo, 71, 41100, Modena, Italy

    Giovanni Ponti, Giovanni Pellacani, Corrado Del Forno & Stefania Seidenari

  2. Department of Oncology, Biology and Genetics, University of Genoa, Genoa, Italy

    Lorenza Pastorino, Sabina Nasti & Giovanna Bianchi-Scarrà

  3. Oral Medicine Unit, Department of Odontostomatological and Maxillofacial Sciences, School of Medicine and Surgery, Federico II University of Naples, Naples, Italy

    Annamaria Pollio & Michele D. Mignogna

  4. Department of Laboratory, Pathological Anatomy and Forensic Medicine, University of Modena and Reggio Emilia, Modena, Italy

    Giovanni Ponti, Aldo Tomasi & Guido Ficarra

  5. Laboratory of Rare Hereditary Cancers, San Martino Hospital, Genoa, Italy

    Giovanna Bianchi-Scarrà

  6. Skin Cancer Unit, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy

    Caterina Longo

Authors
  1. Giovanni Ponti
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Lorenza Pastorino
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Annamaria Pollio
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Sabina Nasti
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Giovanni Pellacani
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Michele D. Mignogna
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Aldo Tomasi
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Corrado Del Forno
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Caterina Longo
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Giovanna Bianchi-Scarrà
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. Guido Ficarra
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. Stefania Seidenari
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Giovanni Ponti.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Ponti, G., Pastorino, L., Pollio, A. et al. Ameloblastoma: a neglected criterion for nevoid basal cell carcinoma (Gorlin) syndrome. Familial Cancer 11, 411–418 (2012). https://doi.org/10.1007/s10689-012-9529-3

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10689-012-9529-3

Keywords

Search

Navigation