成釉细胞纤维肉瘤（AFS）被认为是由成釉细胞纤维瘤（AF）的发育不良变化引起的恶性进展。这两种肿瘤都极其罕见，科学文献中只报道了少数病例。值得注意的是，在成釉细胞瘤中发现了 BRAF 突变，这表明成釉细胞形态与 BRAF 突变之间存在联系，因为 AF 被认为是导致 AFS 的前体肿瘤。在这项研究中，我们介绍了一名 25 岁男性 AFS 病例。对肿瘤组织进行分子分析，特别是使用 Oncomine 综合检测 v3 系统进行下一代测序 (NGS)。分析揭示了 TP53 和 RB 基因的致病性突变，以及 NTRK1、MDM4 和 BRAF 的拷贝数增加。此外，我们还总结了对 107 例先前报告的 AFS 病例进行分析的文献结果。我们的研究结果表明存在一种分子上不同的亚型，强调了对这些患者进行全面分子检测的重要性。© 2023 作者。由巴塞尔 S. Karger AG 出版。

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.© 2023 The Author(s). Published by S. Karger AG, Basel.