Ameloblastic Fibrosarcoma of the Jaw: Case Report, Genetic Profiling, and Literature Review

• Type of Material: Article
• Authors: Duna Barakeh, King Faisal Specialist hospital and Research Center; Afaf Alsolami, Prince Sultan Military Medical City; Malak Abedalthagafi, Emory University
• Language: English
• Date: 2023-11-06
• Publisher: Karger Publishers
• Publication Version: Final Published Version
• Copyright Statement: © 2023, Silverchair Publisher
• License: Creative Commons Attribution-NonCommercial 4.0 International
• Final Published Version (URL): https://doi.org/10.1159/000532014
• Title of Journal or Parent Work: Case Reports in Oncology
• Volume: 16
• Issue: 1
• Start Page: 1293
• End Page: 1299
• Grant/Funding Information: The authors received no financial support for the research, authorship, and/or publication of this article.
• Keywords: NTRK1; Next-generation sequencing; ameloblastic fibroma; Ameloblastic fibrosarcoma; BRAF
• Research Categories: Health Sciences, Oncology

Abstract

Ameloblastic fibrosarcoma (AFS) is considered a malignant progression resulting from dysplastic changes in an ameloblastic fibroma (AF). Both tumors are extremely rare, with only a few cases reported in the scientific literature. Notably, BRAF mutations have been identified in ameloblastomas, suggesting a connection between ameloblastic morphology and BRAF mutations, as AF is believed to be the precursor neoplasm leading to AFS. In this study, we present a case of AFS in a 25-year-old male. The tumor tissue underwent molecular analysis, specifically next-generation sequencing (NGS) using the Oncomine Comprehensive Assay v3 System. The analysis revealed pathogenic mutations in TP53 and RB genes, as well as copy number gains in NTRK1, MDM4, and BRAF. Additionally, we provide a summary of the literature’s findings from the analysis of 107 previously reported AFS cases. Our findings suggest the existence of a molecularly distinct subtype, emphasizing the importance of comprehensive molecular testing for these patients.