In the presence of congenital hypoplasia of the posterior arch of the atlas, the spinal cord is highly susceptible to injury because congenital spinal canal stenosis is present. Therefore, the presence of even a mild mechanical compressive lesion leads to myelopathy. Acquired mild atlantoaxial subluxation was associated with this hypoplasia, and the association was considered to be the mechanism underlying the occurrence of myelopathy in adulthood.
Nodular fasciitis (NF) is a self‐limiting benign disease that is characterized by rapid proliferation of fibroblastic and myofibroblastic cells. The characteristic gene fusion containing the USP6 gene is a genetic hallmark of NF and MYH9‐USP6 is the most frequent fusion, suggesting that NF is not a reactive condition but a neoplastic disease. Malignant transformation of NF has been reported rarely as a single case associated with the PPP6R3‐USP6 fusion. Here we report a case of soft part tumor of which the histological feature was a typical NF but showed aggressive and non‐regressing growth with local invasion. Targeted RNA sequencing and fluorescence in situ hybridization analysis identified PPP6R3‐USP6 with gene amplification. These findings indicate that the present case is the second case of malignant NF, and we suggest potential malignant transformation in certain NF cases.
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