Incipient ameloblastoma or odontogenic hamartomatous proliferation: is BRAFV600E mutation helpful to distinguish them?
DOI:
https://doi.org/10.5327/2525-5711.249Keywords:
Odontogenic, ameloblastoma, mandible, third molarAbstract
The distinction between odontogenic hamartomatous proliferation and other odontogenic cysts and tumors poses a diagnostic challenge. This report presents a unique case of an 18-year-old male who complained of pain and pus discharge in the right posterior mandible for three weeks. Upon intraoral examination, the patient presented with erythema and purulence in the posterior mandible, initially diagnosed as pericoronitis. Computed tomography revealed a well-defined, hypodense, and unilocular lesion attached to the cementoenamel junction of the right lower third molar. Histopathological examination of the surgically excised specimen indicated the presence of a cystic lesion lined by a reduced enamel epithelium, along with islands of hyperchromatic palisaded tumor cells with stellate reticulum-like arrangement scattered in a fibrous stroma in the deep portion of the oral mucosa. The initial diagnosis was an odontogenic hamartoma, but further analysis using immunohistochemistry for BRAF V600E and PCR to analyze the mutation in codon 600 of BRAF confirmed the diagnosis of incipient ameloblastoma. The patient has been under observation for 1 year and four months with no signs of recurrence.
References
Patil S, Rao RS, Majumdar B. Hamartomas of the oral cavity. J Int Soc Prev Community Dent. 2015;5(5):347-53. https://doi.org/10.4103/2231-0762.164789
Garg K, Chandra S, Raj V, Fareed W, Zafar M. Molecular and genetic aspects of odontogenic tumors: a review. Iran J Basic Med Sci. 2015;18(6):529-36. PMID: 26221475.
Ozolek JA, Tekkesin MS. THE "-OMAS" and "-OPIAS": targeted and philosophical considerations regarding hamartomas, choristomas, teratomas, ectopias, and heterotopias in pediatric otorhinolaryngologic pathology. Head Neck Pathol. 2021;15(1):25-40. https://doi.org/10.1007/s12105-020-01251-y
Allon I, Allon DM, Hirshberg A, Shlomi B, Lifschitz-Mercer B, Kaplan I. Oral neurovascular hamartoma: a lesion searching for a name. J Oral Pathol Med. 2012;41(4):348-53. https://doi.org/10.1111/j.1600-0714.2011.01101.x
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;34(1). https://doi.org/10.5146/tjpath.2017.01410
Vargas PA, Carlos-Bregni R, Mosqueda-Taylor A, Cuairan-Ruidíaz V, Lopes MA, de Almeida OP. Adenomatoid dentinoma or adenomatoid odontogenic hamartoma: what is the better term to denominate this uncommon odontogenic lesion? Oral Dis. 2006;12(2):200-3. https://doi.org/10.1111/j.1601-0825.2005.01163.x
Carlos-Bregni R, Vargas PA, Silva ARS, Chaves-Netto HD, Moraes M, Lopes MA. Adenomatoid odontogenic hamartoma: concerns about correct nomenclature and 2 additional case reports. J Oral Maxillofac Surg. 2009;67(8):1779-80; author reply 1780. https://doi.org/10.1016/j.joms.2008.12.062
Vickers RA, Gorlin RJ. Ameloblastoma: delineation of early histopathologic features of neoplasia. Cancer. 1970;26(3):699-710. https://doi.org/10.1002/1097-0142(197009)26:3<699::aid-cncr2820260331>3.0.co;2-k
Barrett AW, Sneddon KJ, Tighe JV, Gulati A, Newman L, Collyer J, et al. Dentigerous cyst and ameloblastoma of the jaws. Int J Surg Pathol. 2017;25(2):141-7. https://doi.org/10.1177/1066896916666319
Isomura ET, Okura M, Ishimoto S, Yamada C, Ono Y, Kishino M, et al. Case report of extragingival peripheral ameloblastoma in buccal mucosa. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2009;108(4):577-9. https://doi.org/10.1016/j.tripleo.2009.06.023
Vezhavendhan N, Vidyalakshmi S, Muthukumaran R, Santhadevy A, Sivaramakrishnan M, Gayathri C. Peripheral ameloblastoma of the gingiva. Autops Case Rep. 2019;10(1):e2019127. https://doi.org/10.4322/acr.2019.127
Vered M, Wright JM. Update from the 5th edition of the World Health Organization Classification of Head and Neck Tumors: odontogenic and maxillofacial bone tumours. Head Neck Pathol. 2022;16(1):63-75. https://doi.org/10.1007/s12105-021-01404-7
Jofre SA, Roth M, Lahouti AH, Gersten A, Azad AK, Kelsch RD, et al. Ameloblastoma with adenoid features: case report with cyto-histopathologic correlation and molecular findings. Diagn Cytopathol. 2022;50(6):E140-E145. https://doi.org/10.1002/dc.24929
Zhang X, Tian X, Hu Y, Zhang C, Wei C, Yang X. Oral peripheral ameloblastoma: a retrospective series study of 25 cases. Med Oral Patol Oral Cir Bucal. 2018;23(3):e277-e281. https://doi.org/10.4317/medoral.22225
Gomes IP, Bastos VC, Guimarães LM, Gomes CC. The molecular basis of odontogenic cysts and tumours. J Oral Pathol Med. 2023;52(4):351-6. https://doi.org/10.1111/jop.13401
Guimarães LM, Coura BP, Gomez RS, Gomes CC. The molecular pathology of odontogenic tumors: expanding the spectrum of MAPK pathway driven tumors. Front Oral Health. 2021;2:740788. https://doi.org/10.3389/froh.2021.740788
Pereira NB, Pereira KMA, Coura BP, Diniz MG, Castro WH, Gomes CC, et al. BRAFV600E mutation in the diagnosis of unicystic ameloblastoma. J Oral Pathol Med. 2016;45(10):780-5. https://doi.org/10.1111/jop.12443
Gardner DG. Some current concepts on the pathology of ameloblastomas. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1996;82(6):660-9. https://doi.org/10.1016/s1079-2104(96)80441-0
Tjioe KC, Damante JH, Oliveira DT. The onset of a peripheral ameloblastoma. Case Rep Oncol Med. 2012;2012:729467. https://doi.org/10.1155/2012/729467
Ide F, Obara K, Yamada H, Mishima K, Saito I, Horie N, et al. Hamartomatous proliferations of odontogenic epithelium within the jaws: a potential histogenetic source of intraosseous epithelial odontogenic tumors. J Oral Pathol Med. 2007;36(4):229-35. https://doi.org/10.1111/j.1600-0714.2007.00488.x
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Copyright (c) 2024 Lucas Lacerda de Souza, Ana Luiza Roza, André Luiz de Araújo Neri, Ciro Dantas Soares, John M. Wright, Pablo Agustin Vargas
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