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Adenoid Ameloblastoma with BRAF p.V600E Mutation Revealing Ameloblastomatous Origin: A First Case Report

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Abstract

Background

Adenoid ameloblastoma (AdAM) is a frequently recurrent tumor that shows hybrid histological features of both ameloblastoma and adenomatoid odontogenic tumor (AOT). AdAM is expected to be classified as a new subtype of ameloblastoma in the next revision of the World Health Organization (WHO) odontogenic tumor classification. However, whether AdAM is a histologic variant of ameloblastoma or AOT remains unclear. To establish a new category, genetic evidence indicating the tumor category is necessary.

Methods

We present a case of a 23-year-old Japanese woman with AdAM who underwent genetic/DNA analysis for ameloblastoma-related mutation using immunohistochemical staining, Sanger sequencing, and next-generation sequencing (NGS) analyses with reliable clinicopathological evidence.

Results

Immunohistochemical expression of BRAF p.V600E was diffusely positive for both ameloblastoma- and AOT-like components. Sanger sequencing and NGS analyses showed missense mutations in BRAF p.V600E (c.1799T > A), a gene that is commonly altered in ameloblastomas but not in KRAS, another gene associated with AOT.

Conclusion

This case report is the first to provide genetic evidence on the ameloblastomatous origin of AdAM with a BRAF p.V600E mutation. A larger series of AdAM groups’ molecular testing is needed to aptly classify them and prognosticate the best treatment.

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Data Availability

Not applicable.

Code Availability

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Funding

This study was not supported by any funding.

Author information

Authors and Affiliations

  1. Department of Pathology and Laboratory Medicine, Kansai Medical University Hospital, 2-3-1 Shin-Machi, Hirakata, Osaka, 573-1191, Japan

    Yuri Noda & Koji Tsuta

  2. Department of Dentistry and Oral Surgery, Kansai Medical University Hospital, 2-3-1 Shin-Machi, Hirakata, Osaka, 573-1191, Japan

    Shunsuke Sawada & Yuka Kojima

  3. Department of Otolaryngology, Head and Neck Surgery, Kansai Medical University Hospital, 2-3-1 Shin-Machi, Hirakata, Osaka, 573-1191, Japan

    Tomofumi Sakagami

  4. Department of Genome Analysis, Institute of Biomedical Science, Kansai Medical University, 2-5-1 Shin-Machi, Hirakata, Osaka, 573-1010, Japan

    Koichiro Higasa

  5. Department of Pathology, Kansai Medical University, 2-5-1 Shin-Machi, Hirakata, Osaka, 573-1010, Japan

    Yuri Noda

Authors
  1. Yuri Noda
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  2. Shunsuke Sawada
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  3. Tomofumi Sakagami
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  4. Yuka Kojima
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  5. Koichiro Higasa
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  6. Koji Tsuta
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Contributions

YN, KH and KT diagnosed the patient reported in this case study. SS, TS and YK treated the patient clinically.

Corresponding author

Correspondence to Yuri Noda.

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The authors declare that they have no conflicts of interest.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

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Informed consent was obtained from all individual participants included in the study.

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Noda, Y., Sawada, S., Sakagami, T. et al. Adenoid Ameloblastoma with BRAF p.V600E Mutation Revealing Ameloblastomatous Origin: A First Case Report. Head and Neck Pathol 17, 788–792 (2023). https://doi.org/10.1007/s12105-023-01555-9

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  • DOI: https://doi.org/10.1007/s12105-023-01555-9

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