Ameloblastic Fibro-Odontoma with an FGFR1 Mutation: A Case Report

Oumaima Aouam; Nard G Janssen; Wendy W J de Leng; Gerben E Breimer

doi:10.1007/s12105-025-01758-2

Ameloblastic Fibro-Odontoma with an FGFR1 Mutation: A Case Report

Oumaima Aouam, Nard G Janssen, Wendy W J de Leng, Gerben E Breimer^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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Abstract

PURPOSE: Ameloblastic fibro-odontoma (AFO) is a rare benign mixed odontogenic tumor that, after being classified for years as a distinct entity, was redefined as a "developing odontoma" in the 2017 World Health Organization classification. This article presents a unique case of an AFO with an FGFR1 mutation.

METHODS: We present a case of an 8-year-old child with a slowly progressive swelling in the lower left mandible. Next-generation sequencing (TSO500 panel) was performed.

RESULTS: Panoramic radiography revealed an odontogenic tumor; therefore, a transoral enucleation was performed. Pathological microscopic examination confirmed the diagnosis of AFO, and next-generation sequencing detected an FGFR1 mutation.

CONCLUSION: The presence of an FGFR1 mutation in an AFO may suggest a closer biological relationship between ameloblastic fibroma and AFO, potentially distinguishing it from odontomas. Further research, including genetic studies, is needed to enhance our understanding and refine the classification of these tumors.

Original language	English
Article number	19
Number of pages	4
Journal	Head and neck pathology
Volume	19
Issue number	1
DOIs	https://doi.org/10.1007/s12105-025-01758-2
Publication status	Published - 5 Feb 2025

Keywords

Child
Female
Humans
Male
Mandibular Neoplasms/genetics
Mutation
Odontogenic Tumors/genetics
Odontoma/genetics
Receptor, Fibroblast Growth Factor, Type 1/genetics

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title = "Ameloblastic Fibro-Odontoma with an FGFR1 Mutation: A Case Report",

abstract = "PURPOSE: Ameloblastic fibro-odontoma (AFO) is a rare benign mixed odontogenic tumor that, after being classified for years as a distinct entity, was redefined as a {"}developing odontoma{"} in the 2017 World Health Organization classification. This article presents a unique case of an AFO with an FGFR1 mutation.METHODS: We present a case of an 8-year-old child with a slowly progressive swelling in the lower left mandible. Next-generation sequencing (TSO500 panel) was performed.RESULTS: Panoramic radiography revealed an odontogenic tumor; therefore, a transoral enucleation was performed. Pathological microscopic examination confirmed the diagnosis of AFO, and next-generation sequencing detected an FGFR1 mutation.CONCLUSION: The presence of an FGFR1 mutation in an AFO may suggest a closer biological relationship between ameloblastic fibroma and AFO, potentially distinguishing it from odontomas. Further research, including genetic studies, is needed to enhance our understanding and refine the classification of these tumors.",

keywords = "Child, Female, Humans, Male, Mandibular Neoplasms/genetics, Mutation, Odontogenic Tumors/genetics, Odontoma/genetics, Receptor, Fibroblast Growth Factor, Type 1/genetics",

author = "Oumaima Aouam and Janssen, {Nard G} and {de Leng}, {Wendy W J} and Breimer, {Gerben E}",

note = "Publisher Copyright: {\textcopyright} The Author(s) 2025.",

year = "2025",

month = feb,

day = "5",

doi = "10.1007/s12105-025-01758-2",

language = "English",

volume = "19",

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TY - JOUR

T1 - Ameloblastic Fibro-Odontoma with an FGFR1 Mutation

T2 - A Case Report

AU - Aouam, Oumaima

AU - Janssen, Nard G

AU - de Leng, Wendy W J

AU - Breimer, Gerben E

N1 - Publisher Copyright: © The Author(s) 2025.

PY - 2025/2/5

Y1 - 2025/2/5

N2 - PURPOSE: Ameloblastic fibro-odontoma (AFO) is a rare benign mixed odontogenic tumor that, after being classified for years as a distinct entity, was redefined as a "developing odontoma" in the 2017 World Health Organization classification. This article presents a unique case of an AFO with an FGFR1 mutation.METHODS: We present a case of an 8-year-old child with a slowly progressive swelling in the lower left mandible. Next-generation sequencing (TSO500 panel) was performed.RESULTS: Panoramic radiography revealed an odontogenic tumor; therefore, a transoral enucleation was performed. Pathological microscopic examination confirmed the diagnosis of AFO, and next-generation sequencing detected an FGFR1 mutation.CONCLUSION: The presence of an FGFR1 mutation in an AFO may suggest a closer biological relationship between ameloblastic fibroma and AFO, potentially distinguishing it from odontomas. Further research, including genetic studies, is needed to enhance our understanding and refine the classification of these tumors.

AB - PURPOSE: Ameloblastic fibro-odontoma (AFO) is a rare benign mixed odontogenic tumor that, after being classified for years as a distinct entity, was redefined as a "developing odontoma" in the 2017 World Health Organization classification. This article presents a unique case of an AFO with an FGFR1 mutation.METHODS: We present a case of an 8-year-old child with a slowly progressive swelling in the lower left mandible. Next-generation sequencing (TSO500 panel) was performed.RESULTS: Panoramic radiography revealed an odontogenic tumor; therefore, a transoral enucleation was performed. Pathological microscopic examination confirmed the diagnosis of AFO, and next-generation sequencing detected an FGFR1 mutation.CONCLUSION: The presence of an FGFR1 mutation in an AFO may suggest a closer biological relationship between ameloblastic fibroma and AFO, potentially distinguishing it from odontomas. Further research, including genetic studies, is needed to enhance our understanding and refine the classification of these tumors.

KW - Child

KW - Female

KW - Humans

KW - Male

KW - Mandibular Neoplasms/genetics

KW - Mutation

KW - Odontogenic Tumors/genetics

KW - Odontoma/genetics

KW - Receptor, Fibroblast Growth Factor, Type 1/genetics

U2 - 10.1007/s12105-025-01758-2

DO - 10.1007/s12105-025-01758-2

M3 - Article

C2 - 39907837

SN - 1936-055X

VL - 19

JO - Head and neck pathology

JF - Head and neck pathology

IS - 1

M1 - 19

ER -

Ameloblastic Fibro-Odontoma with an FGFR1 Mutation: A Case Report

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Keywords

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