Журнал канцерогенеза и мутагенеза

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Presentations of Clinical, Ultrasonographic and Pathological Features of Nodular Fasciitis from an Established Cytogenetic Viewpoint: Review of the Case Series

Kazumi Fujioka

Even though nodular fasciitis (NF) is benign and self-limited, the clinical, ultrasonographyic and pathological presentations have been described as mimicking sarcoma. We have reported that proliferative findings on both US and histology may be caused by the cytogenetic nature of NF. When the lesion showed the proliferative findings of the margin on both US and pathology, accompanied with clinical rapid growth and self-limited course, NF should be strongly suggested as one of the skin tumors as previously described. NF has been cytogenetically considered as a novel model of transient neoplasia induced by MYH9-USP6 gene fusion. It has been suggested that strong overexpression of USP6 under MYH9 promoter appears to drive tumorigenesis. A clear association between NF and a recurrent genetic abnormality had been established in fluorescence in-situ hybridization (FISH) analysis.

In this article, we reviewed the clinical, ultrasonographic and pathological features of NF in the case series from an established cytogenetic viewpoint. Our study indicated that proliferative findings of the margin on US and pathology may be caused by the driving force of USP6 transcriptional upregulation behind the high proliferative activity and growth of NF. All nodules clinically represented rapid growing, self-limited and/or regress course, suggesting the high proliferative growth and involutional nature of NF.

We emphasize that the presentations of clinical, ultrasonographic and pathological features of NF are contributed to the cytogenetic nature, having the high proliferative growth and involutional nature.