PDF(Pubmed)
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.
摘要：
成釉细胞纤维肉瘤（AFS）被认为是由成釉细胞纤维瘤（AF）的发育不良引起的恶性进展。这两种肿瘤都极为罕见,只有少数病例在科学文献中报道。值得注意的是,已经在成釉细胞瘤中发现了BRAF突变，提示成釉细胞形态和BRAF突变之间的联系，因为AF被认为是导致AFS的前兆肿瘤。在这项研究中,我们介绍了一例25岁男性的AFS病例.肿瘤组织进行了分子分析，特别是下一代测序（NGS）使用Oncomine综合检测系统v3。分析显示TP53和RB基因的致病性突变，以及NTRK1、MDM4和BRAF中的拷贝数增益。此外,我们提供了对先前报道的107例AFS病例分析的文献发现的总结。我们的发现表明存在一种独特的分子亚型，强调对这些患者进行全面分子检测的重要性。
