Familial gigantiform cementoma with recurrent ANO5 p.Cys356Tyr mutations: Clinicopathological and genetic study with literature review
Zheng Zhou,
Ye Zhang,
Lijing Zhu
et al.
Abstract:BackgroundFamilial gigantiform cementoma (FGC) is a rare tumor characterized by the early onset of multi‐quadrant fibro‐osseous lesions in the jaws, causing severe maxillofacial deformities. Its clinicopathological features overlap with those of other benign fibro‐osseous lesions. FGC eventually exhibits progressively rapid growth, but no suspected causative gene has been identified.MethodsIn this study, three patients with FGC were recruited, and genomic DNA from the tumor tissue and peripheral blood was extr… Show more
“…It is noteworthy that our cohort is the first to identify this rare condition. Recent studies have identified unique mutations in the ANO5 gene in FGC, not seen in other BFOLs ( Zhou et al, 2024 ).…”
“…It is noteworthy that our cohort is the first to identify this rare condition. Recent studies have identified unique mutations in the ANO5 gene in FGC, not seen in other BFOLs ( Zhou et al, 2024 ).…”
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