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Clinical, radiographic, pathological and inherited characteristics of odontogenic keratocyst in nevoid basal cell carcinoma syndrome: a study in three Chilean families

Oral Radiology (2022)Cite this article

Abstract

Introduction

Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant condition characterized by the development of odontogenic keratocyst (OKC), basal cell carcinomas and palmar–plantar pits among other conditions. Reports about Latin American population are scarce.

Objective

To analyze the clinical, radiographic, histopathologic and inherited features of odontogenic keratocyst and palmar pits in three Chilean families with nevoid basal cell carcinoma syndrome.

Material and methods

After histopathologic diagnosis of OKC, notified consent was requested and evaluation of the affected patients and their families was done.

Results

Two families appeared to have only one affected adolescent, and both of them were considered de novo cases. In the third family, three affected members participated in this study, with an autosomal dominant presentation. All affected patients had OKC and palmar pits. Basal cell carcinomas were present only among adult patients. All examined patients were from Latin American ethnic groups.

Conclusions

Patients with NBCCS had single or multiple OKCs that were located more frequently in the mandibular area. One family had autosomal dominant inheritance and the other two families were de novo cases. None of the three teenage patients had basal cell carcinomas.

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Data availability

The anonymized data evaluated during the present study will be available from the corresponding author upon reasonable request.

References

  1. Gorlin RJ, Goltz RW. Multiple basal cell epithelioma, jaw cysts and bifid ribs. N Engl J Medicine. 1960;262:908–12. https://doi.org/10.1056/NEJM196005052621803.

    Article  Google Scholar 

  2. Kimonis VE, Singh KE, Zhong R, Pastakia B, Digiovanna JJ, Bale SJ. Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome. Genet Med. 2013;15(1):79–83. https://doi.org/10.1038/gim.2012.96.

    Article  PubMed  Google Scholar 

  3. Titinchi F, Nortje C, Parker M, Janse van Rensburg L. Nevoid basal cell carcinoma syndrome: a 40-year study in the South African population. J Oral Pathol Med. 2013;42:162–5. https://doi.org/10.1111/j.1600-0714.2012.01188.x.

    Article  PubMed  Google Scholar 

  4. Gailani MR, Bale SJ, Leffell DJ, DiGiovanna JJ, Peck GL, Poliak S, et al. Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9. Cell. 1992;69:111–7. https://doi.org/10.1016/0092-8674(92)90122-s.

    Article  PubMed  Google Scholar 

  5. Rivas M, Rojas E, Calaf G. Skin cancer risk affected by ultraviolet solar irradiance in Arica. Chile Oncol Lett. 2014;7(2):483–6. https://doi.org/10.3892/ol.2013.1698.

    Article  PubMed  Google Scholar 

  6. Kadlub N, Coudert A, Gatibelza ME, El Houmami N, Soufir N, Ruhin-Poncet B, et al. PTCH1 mutation and local aggressiveness of odontogenic keratocystic tumors in children: is there a relationship? Hum Pathol. 2013;44:1071–8. https://doi.org/10.1016/j.humpath.2012.09.012.

    Article  PubMed  Google Scholar 

  7. Rui Z, Li-Ying P, Jia-Fei Q, Ying-Ying H, Feng C, Tie-Jun L. Smoothened gene alterations in keratocystic odontogenic tumors. Head Face Med. 2014;5(10):36. https://doi.org/10.1186/1746-160X-10-36.

    Article  Google Scholar 

  8. Philipsen HP. Pathology and genetics of head and neck tumours. In: Barnes L, Eveson J, Reichart P, Sidransky D, editors. IARC, odontogenic tumours. Lyon: IARC Press; 2005. p. 306–7.

    Google Scholar 

  9. Soluk-Tekkeşin M, Wright JM. The world health organization classification of odontogenic lesions: a summary of the changes of the 2017 4th edition. Turk Patoloji Derg. 2018. https://doi.org/10.5146/tjpath.2017.01410.

    Article  PubMed  Google Scholar 

  10. El-Naggar AK, Chan JKC, Grandis JR, Takata T, Slootweg PJ, editors. WHO classification of head and neck tumours. 4th ed. Lyon: IARC; 2017. p. 205–60

  11. Visioli F, Medeiros CA, Heitz C, Varvaki P, Sant’Ana M. Is nevoid basal cell carcinoma syndrome really so rare? Proposal for an investigative protocol based on a case series. J Oral Maxillofac Surg. 2010;68:903–8. https://doi.org/10.1016/j.joms.2009.03.032.

    Article  PubMed  Google Scholar 

  12. Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGiovanna JJ, et al. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Medical Genet. 1997;69:299–308.

    Article  Google Scholar 

  13. Reichart P, Philipsen H. Atlas de Patología Oral Quistes epiteliales maxilares. Ed. Masson Quistes Epiteliales Maxilares. Barcelona: Masson; 2000. p. 205–9.

    Google Scholar 

  14. Shimada Y, Morita K, Kabasawa Y, Taguchi T, Omura K. Clinical manifestations and treatment for keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome: a study in 25 Japanese patients. J Oral Pathol Med. 2013;42(3):275–80. https://doi.org/10.1111/j.1600-0714.2012.01202.x.

    Article  PubMed  Google Scholar 

  15. Rosón-Gomez S, González R, Naval L, Sastre J, Muñoz M, Díaz F. Síndrome de Gorlin-Goltz: Serie de 7 casos. Rev Esp Cir Oral Maxilofac. 2009;31(5):309–15.

    Google Scholar 

  16. Habibi A, Jafarzadeh H. Nevoid basal cell carcinoma syndrome: a 17-year study of 19 cases in Iranian population (1991–2008). J Oral Pathol Med. 2010;39(9):677–80. https://doi.org/10.1111/j.1600-0714.2010.00896.x.

    Article  PubMed  Google Scholar 

  17. Shanley S, Ratcliffe J, Hockey A, Haan E, Oley C, Ravine D, Martin N, Wicking C, Chenevix-Trench G. Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. Am J Med Genet. 1994;50(3):282–90. https://doi.org/10.1002/ajmg.1320500312.

    Article  PubMed  Google Scholar 

  18. Larsen AK, Mikkelsen DB, Hertz JM, Bygum A. Manifestations of Gorlin-Goltz syndrome. Dan Med J. 2014;61(5):A4829.

    PubMed  Google Scholar 

  19. Ochsenius G, Escobar E, Godoy L, Peñafiel C. Odontogenic cysts: analysis of 2944 cases in Chile. Med Oral Patol Oral Cir Bucal. 2007;12(2):E85-91.

    PubMed  Google Scholar 

  20. Ally MS, Tang JY, Joseph T, Thompson B, Lindgren J, Raphael MA, Ulerio G, Chanana AM, Mackay-Wiggan JM, Bickers DR, Epstein EH Jr. The use of vismodegib to shrink keratocystic odontogenic tumors in patients with basal cell nevus syndrome. JAMA Dermatol. 2014;150(5):542–5. https://doi.org/10.1001/jamadermatol.2013.7444.

    Article  PubMed  PubMed Central  Google Scholar 

  21. Evans DG, Howard E, Giblin C, Clancy T, Spencer H, Huson SM, Lalloo F. Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A. 2010;152A(2):327–32. https://doi.org/10.1002/ajmg.a.33139.

    Article  PubMed  Google Scholar 

  22. Leiva N, Véliz S, González L, Salazar C. Síndrome Gorlin-Goltz asociado a fisura labiopalatina bilateral. Rev Cubana Estomatol. 2015;52(2):188–95.

    Google Scholar 

  23. Bree AF, Shah MR, BCNS Colloquium Group. Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS). Am J Med Genet A. 2011;155A(9):2091–7. https://doi.org/10.1002/ajmg.a.34128.

    Article  PubMed  Google Scholar 

  24. Hwang DS, Kim YH, Kim UK, Ryu MH, Kim GC. Retrospective clinical study of multiple keratocystic odontogenic tumors in non-syndromic patients. J Korean Assoc Oral Maxillofac Surg. 2018;44(3):107–11. https://doi.org/10.5125/jkaoms.2018.44.3.107.

    Article  PubMed  PubMed Central  Google Scholar 

  25. Kargahi N, Kalantari M. Non-syndromic multiple odontogenic keratocyst: a case report. J Dent (Shiraz). 2013;14(3):151–4.

    PubMed  Google Scholar 

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Acknowledgements

We thank all the families that participated in this study. This research has been supported by grant PRI-ODO 016/05 from the Faculty of Dentistry of the University of Chile.

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Author notes

  1. Angela Castillo-Tobar and Blanca Urzúa contributed equally to this manuscript.

Authors and Affiliations

  1. Department of Oral Pathology and Medicine, Faculty of Dentistry, Universidad de Chile, Olivos 943, Independencia, 8380492, Santiago, Chile

    Angela Castillo-Tobar, Jorge Pinares & Ana Ortega-Pinto

  2. Institute of Oral Sciences Research, Faculty of Dentistry, Universidad de Chile, Olivos 943, Independencia, 8380492, Santiago, Chile

    Blanca Urzúa

  3. Department of Surgery and Traumatology, Faculty of Dentistry, Universidad de Chile, Olivos 943, Independencia, 8380492, Santiago, Chile

    Victor Tirreau & Francisca Donoso

  4. Negrete 1401, 3071379 Hospital San Juan de Dios, San Fernando, Chile

    Rodrigo Cosmelli-Maturana

Authors
  1. Angela Castillo-Tobar
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  3. Victor Tirreau
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  4. Francisca Donoso
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Corresponding author

Correspondence to Ana Ortega-Pinto.

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The authors declare that they have no conflict of interest.

Ethical approval

This work is part of a research project approved by the Ethics Committee of the Faculty of Dentistry of the University of Chile.

Informed consent

Each patient and in the case of children their parents signed an informed consent authorizing their participation. Young people between 12 and 18 years of age signed an informed assent.

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Castillo-Tobar, A., Urzúa, B., Tirreau, V. et al. Clinical, radiographic, pathological and inherited characteristics of odontogenic keratocyst in nevoid basal cell carcinoma syndrome: a study in three Chilean families. Oral Radiol (2022). https://doi.org/10.1007/s11282-022-00664-5

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Keywords

  • Basal cell carcinoma
  • Keratocyst
  • Nevoid basal cell carcinoma syndrome