The Mutational Profile of Unicystic Ameloblastoma

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Heikinheimo , K , Huhtala , J -M , Thiel , A , Kurppa , K J , Heikinheimo , H , Kovac , M , Kragelund , C , Warfvinge , G , Dawson , H , Elenius , K , Ristimäki , A , Baumhoer , D & Morgan , P R 2019 , ' The Mutational Profile of Unicystic Ameloblastoma ' , Journal of Dental Research , vol. 98 , no. 1 , pp. 54-60 .

Title: The Mutational Profile of Unicystic Ameloblastoma
Author: Heikinheimo, K.; Huhtala, J. -M.; Thiel, A.; Kurppa, K. J.; Heikinheimo, H.; Kovac, M.; Kragelund, C.; Warfvinge, G.; Dawson, H.; Elenius, K.; Ristimäki, A.; Baumhoer, D.; Morgan, P. R.
Contributor organization: Genome-Scale Biology (GSB) Research Program
Research Programs Unit
University of Helsinki
ATG - Applied Tumor Genomics
Department of Pathology
Helsinki University Hospital Area
Date: 2019-01
Language: eng
Number of pages: 7
Belongs to series: Journal of Dental Research
ISSN: 0022-0345
Abstract: BRAF V600E is the most common mutation in conventional ameloblastoma (AM) of the mandible. In contrast, maxillary AMs appear to harbor more frequently RAS, FGFR2, or SMO mutations. Unicystic ameloblastoma (UAM) is considered a less aggressive variant of ameloblastoma, amenable to more conservative treatment, and classified as a distinct entity. The aim of this study was to characterize the mutation profile of UAM (n = 39) and to compare it to conventional AM (n = 39). The associations between mutation status and recurrence probability were also analyzed. In the mandible, 94% of UAMs (29/31, including 8/8 luminal, 6/8 intraluminal, and 15/15 mural subtypes) and 74% of AMs (28/38) revealed BRAF V600E mutations. Among the BRAF wild-type cases, 1 UAM showed a missense SMO mutation (p.L412F), whereas 2 NRAS (p.Q61R), 2 HRAS (p.Q61R), and 2 FGFR2 (p.C383R) activating mutations were identified in AM. Of the 3 maxillary UAMs, only 1 revealed a BRAF V600E mutation. Taken together, our findings demonstrate high frequency of activating BRAF V600E mutations in both UAM and AM of the mandible. In maxillary UAMs, the BRAF V600E mutation prevalence appears to be lower as was shown for AM previously. It could therefore be argued that UAM and AM are part of the spectrum of the same disease. AMs without BRAF V600E mutations were associated with an increased rate of local recurrence (P = 0.0003), which might indicate that routine mutation testing also has an impact on prognosis.
Subject: drug therapy
genetic markers
odontogenic tumors
mitogen-activated protein kinase kinases
jaw neoplasms
survival analysis
313 Dentistry
Peer reviewed: Yes
Rights: unspecified
Usage restriction: openAccess
Self-archived version: publishedVersion

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