Keratocystic odontogenic tumor related to nevoid basal cell carcinoma syndrome: clinicopathological study

Bomfin, Luana Eschholz; Vivas, Ana Paula M.; Rocha, Andre Caroli; Achatz, Maria Isabel W.; Pinto, Clovis Antonio L.; Alves, Fabio Abreu

Abstract

AIM: To assess clinicopathological features of patients with keratocystic odontogenic tumor (KCOT) associated with nevoid basal cell carcinoma syndrome (NBCCS) in a single Brazilian institution. METHODS: After histopathological analyses of KCOT related to NBCCS, the medical charts of 14 patients were assessed. These patients presented a total of 31 primary and 8 recurrent KCOT. RESULTS: Out of 14 patients, 8 presented a single KCOT, 4 showed synchronous tumors, 1 had 3 metachronous lesions and another patient had 2 synchronous lesions at initial evaluation and then developed other 3 metachronous lesions. Besides the 31 primary KCOTs, 18 lesions were located in mandible and 13 in maxilla. Most tumors presented unilocular pattern and association with a tooth. CONCLUSIONS: KCOT is a frequent manifestation of NBCCS and can be its first sign, mainly in young patients. In contrast to a previously published series, most patients presented a single lesion.

Gorlin syndrome; keratocyst; keratocystic odontogenic tumor; nevoid basal cell carcinoma syndrome

¹
Gorlin RJ, Goltz RW. Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome. N Engl J Med. 1960; 62: 908-12.
²
2- 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: 2091-7.
³
Evans DG, Ladusans EJ, Rimmer S, Burnell LD, Thakker N, Farndon PA. Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet. 1993; 30: 460-4.
⁴
Agaram NP, Collins BM, Barnes L, Lomago D, Aldeeb D, Swalsky P et al. Molecular analysis to demonstrate that odontogenic keratocysts are neoplastic. Arch Pathol Lab Med. 2004; 128: 313-7.
⁵
Tincani AJ, Martins AS, Andrade RG, Franco JR EFM, Camargo MAB, Martins AS. Nevoid Basal-Cell Carcinoma Syndrome: literature review and case report in a family. Sao Paulo Med J. 1995; 113: 917-21.
⁶
Melo ES, Kawamura JY, Alves CA, Nunes FD, Jorge WA, Cavalcanti MG. Imaging modality correlations of an odontogenic keratocyst in the nevoid basal cell carcinoma syndrome: a family case report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2004; 98: 232-6.
⁷
Lopes NN, Caran EM, Lee ML, Silva NS, Rocha AC, Macedo CR. Gorlin-Goltz syndrome and neoplasms: a case study. J Clin Pediatr Dent. 2010; 35: 203-6.
⁸
Visioli F, Martins CA, Heitz C, Rados PV, Sant'Ana Filho 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.
⁹
Casaroto AR, Loures DC, Moreschi E, Veltrini VC, Trento CL, Gottardo VD et al. Early diagnosis of Gorlin-Goltz syndrome: case report. Head Face Med. 2011; 2: 1-5.
¹⁰
Pereira CM, Lopes AP, Meneghini AJ, Silva AF, Botelho TL. Oral diffuse B-cell non-Hodgkin's lymphoma associated to Gorlin-Goltz syndrome: a case report with one year follow-up. Indian J Pathol Microbiol. 2011; 54: 388-90.
¹¹
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 Med Genet. 1997; 69: 299-308.
¹²
Amlashi SF, Riffaud L, Brassier G, Morandi X. Nevoid basal cell carcinoma syndrome: relation with desmoplastic medulloblastoma in infancy. A population-based study and review of the literature. Cancer. 2003; 98: 618-24.
¹³
Gorlin RJ. Nevoid basal-cell carcinoma syndrome. Medicine (Baltimore). 1987; 66: 98-113.
¹⁴
Hasegawa K, Amagasa T, Shioda S, Kayano T. Basal cell nevus syndrome with squamous cell carcinoma of the maxilla: report of a case. J Oral Maxillofac Surg. 1989; 47: 629-33.
¹⁵
Yilmaz B, Goldberg LH, Schechter NR, Kemp BL, Ruiz H. Basal cell nevus syndrome concurrent with adenoid cystic carcinoma of salivary gland. J Am Acad Dermatol. 2003; 48: S64-6.
¹⁶
Eslami B, Lorente C, Kieff D, Caruso PA, Faquin WC. Ameloblastoma associated with the nevoid basal cell carcinoma (Gorlin) syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008; 105: e10-3.
¹⁷
Lo Muzio L. Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet J Rare Dis. 2008; 25: 32.
¹⁸
Ponti G, Pastorino L, Pollio A, Nasti S, Pellacani G, Mignogna MD et al. Ameloblastoma: a neglected criterion for nevoid basal cell carcinoma (Gorlin) syndrome. Fam Cancer. 2012; 11: 411-8.
¹⁹
Lo Muzio L, Nocini PF, Savoia A, Consolo U, Procaccini M, Zelante L et al. Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals. Clin Genet. 1999; 55: 34-40.
²⁰
Woolgar JA, Rippin JW, Browne RM. The odontogenic keratocyst and its occurrence in the nevoid basal cell carcinoma syndrome. Oral Surg Oral Med Oral Pathol. 1987; 64: 727-30.
²¹
Ahn SG, Lim YS, Kim DK, Kim SG, Lee SH, Yoon JH. Nevoid basal cell carcinoma syndrome: a retrospective analysis of 33 affected Korean individuals. Int J Oral Maxillofac Surg. 2004; 33: 458-62.
²²
Gupta SR, Jaetli V, Mohanty S, Sharma R, Gupta A. Nevoid basal cell carcinoma syndrome in Indian patients: a clinical and radiological study of 6 cases and review of literature. Oral Surg Oral Med Oral Pathol Oral Radiol. 2012; 113: 99-110.
²³
Zecha JA, Mendes RA, Lindeboom VB, van der Waal I. Recurrence rate of keratocystic odontogenic tumor after conservative surgical treatment without adjunctive therapies - A 35-year single institution experience. Oral Oncol. 2010; 46: 740-2.
²⁴
Boffano P, Ruga E, Gallesio C. Keratocystic odontogenic tumor (keratocyst): preliminary retrospective review of epidemiologic, clinical, and radiologic features of 261 lesions from University of Turin. J Oral Maxillofac Surg. 2010; 68: 2994-9.
²⁵
Zhao YF, Wei JX, Wang SP. Treatment of odontogenic keratocysts: a follow-up of 255 Chinese patients. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2002; 94: 151-6.

Publication Dates

Publication in this collection
04 June 2013
Date of issue
Mar 2013

History

Received
14 Jan 2013
Accepted
05 Mar 2013

This work is licensed under a Creative Commons Attribution 4.0 International License.

[1] ¹
Gorlin RJ, Goltz RW. Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome. N Engl J Med. 1960; 62: 908-12.

[2] ²
2- 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: 2091-7.

[3] ³
Evans DG, Ladusans EJ, Rimmer S, Burnell LD, Thakker N, Farndon PA. Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet. 1993; 30: 460-4.

[4] ⁴
Agaram NP, Collins BM, Barnes L, Lomago D, Aldeeb D, Swalsky P et al. Molecular analysis to demonstrate that odontogenic keratocysts are neoplastic. Arch Pathol Lab Med. 2004; 128: 313-7.

[5] ⁵
Tincani AJ, Martins AS, Andrade RG, Franco JR EFM, Camargo MAB, Martins AS. Nevoid Basal-Cell Carcinoma Syndrome: literature review and case report in a family. Sao Paulo Med J. 1995; 113: 917-21.

[6] ⁶
Melo ES, Kawamura JY, Alves CA, Nunes FD, Jorge WA, Cavalcanti MG. Imaging modality correlations of an odontogenic keratocyst in the nevoid basal cell carcinoma syndrome: a family case report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2004; 98: 232-6.

[7] ⁷
Lopes NN, Caran EM, Lee ML, Silva NS, Rocha AC, Macedo CR. Gorlin-Goltz syndrome and neoplasms: a case study. J Clin Pediatr Dent. 2010; 35: 203-6.

[8] ⁸
Visioli F, Martins CA, Heitz C, Rados PV, Sant'Ana Filho 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.

[9] ⁹
Casaroto AR, Loures DC, Moreschi E, Veltrini VC, Trento CL, Gottardo VD et al. Early diagnosis of Gorlin-Goltz syndrome: case report. Head Face Med. 2011; 2: 1-5.

[10] ¹⁰
Pereira CM, Lopes AP, Meneghini AJ, Silva AF, Botelho TL. Oral diffuse B-cell non-Hodgkin's lymphoma associated to Gorlin-Goltz syndrome: a case report with one year follow-up. Indian J Pathol Microbiol. 2011; 54: 388-90.

[11] ¹¹
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 Med Genet. 1997; 69: 299-308.

[12] ¹²
Amlashi SF, Riffaud L, Brassier G, Morandi X. Nevoid basal cell carcinoma syndrome: relation with desmoplastic medulloblastoma in infancy. A population-based study and review of the literature. Cancer. 2003; 98: 618-24.

[13] ¹³
Gorlin RJ. Nevoid basal-cell carcinoma syndrome. Medicine (Baltimore). 1987; 66: 98-113.

[14] ¹⁴
Hasegawa K, Amagasa T, Shioda S, Kayano T. Basal cell nevus syndrome with squamous cell carcinoma of the maxilla: report of a case. J Oral Maxillofac Surg. 1989; 47: 629-33.

[15] ¹⁵
Yilmaz B, Goldberg LH, Schechter NR, Kemp BL, Ruiz H. Basal cell nevus syndrome concurrent with adenoid cystic carcinoma of salivary gland. J Am Acad Dermatol. 2003; 48: S64-6.

[16] ¹⁶
Eslami B, Lorente C, Kieff D, Caruso PA, Faquin WC. Ameloblastoma associated with the nevoid basal cell carcinoma (Gorlin) syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008; 105: e10-3.

[17] ¹⁷
Lo Muzio L. Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet J Rare Dis. 2008; 25: 32.

[18] ¹⁸
Ponti G, Pastorino L, Pollio A, Nasti S, Pellacani G, Mignogna MD et al. Ameloblastoma: a neglected criterion for nevoid basal cell carcinoma (Gorlin) syndrome. Fam Cancer. 2012; 11: 411-8.

[19] ¹⁹
Lo Muzio L, Nocini PF, Savoia A, Consolo U, Procaccini M, Zelante L et al. Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals. Clin Genet. 1999; 55: 34-40.

[20] ²⁰
Woolgar JA, Rippin JW, Browne RM. The odontogenic keratocyst and its occurrence in the nevoid basal cell carcinoma syndrome. Oral Surg Oral Med Oral Pathol. 1987; 64: 727-30.

[21] ²¹
Ahn SG, Lim YS, Kim DK, Kim SG, Lee SH, Yoon JH. Nevoid basal cell carcinoma syndrome: a retrospective analysis of 33 affected Korean individuals. Int J Oral Maxillofac Surg. 2004; 33: 458-62.

[22] ²²
Gupta SR, Jaetli V, Mohanty S, Sharma R, Gupta A. Nevoid basal cell carcinoma syndrome in Indian patients: a clinical and radiological study of 6 cases and review of literature. Oral Surg Oral Med Oral Pathol Oral Radiol. 2012; 113: 99-110.

[23] ²³
Zecha JA, Mendes RA, Lindeboom VB, van der Waal I. Recurrence rate of keratocystic odontogenic tumor after conservative surgical treatment without adjunctive therapies - A 35-year single institution experience. Oral Oncol. 2010; 46: 740-2.

[24] ²⁴
Boffano P, Ruga E, Gallesio C. Keratocystic odontogenic tumor (keratocyst): preliminary retrospective review of epidemiologic, clinical, and radiologic features of 261 lesions from University of Turin. J Oral Maxillofac Surg. 2010; 68: 2994-9.

[25] ²⁵
Zhao YF, Wei JX, Wang SP. Treatment of odontogenic keratocysts: a follow-up of 255 Chinese patients. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2002; 94: 151-6.