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

Ameloblastic fibrosarcoma (AFS) is believed to be a malignant spectrum of dysplastic changes arising in an ameloblastic fibroma (AF). Both tumors are exceedingly rare, few cases reported in the literature. BRAF mutations have been found in ameloblastomas, and hence, ameloblastic morphology has also been found to harbor BRAF mutations Since AF is thought to be the precursor neoplasm giving rise to AFS. We report a case of ameloblastic fibrosarcoma presenting in a 25-year-old man. The tumor tissue was sent for molecular analysis, and next generation sequencing (NGS) was performed using the Oncomine Comprehensive Assay v3 System, which detected pathogenic mutations in TP53 and RB genes and copy number gains in NTRK1, MDM4, and BRAF. We also summarize the literature findings of all 107 previously reported AFS cases. Our findings could highlight a molecularly distinct subtype, which warrants extensive molecular testing of these patients.