Abstract
Nodular fasciitis is a benign myofibroblastic neoplasm that characteristically enlarges rapidly and then usually regresses spontaneously. While the vast majority of tumors are benign, there are rare reports of morphologically benign nodular fasciitis giving rise to metastases, not predictable on histologic grounds. Here, we report what we believe is an example of morphologically malignant nodular fasciitis, which occurred in the upper extremity of a 7-year-old male. The tumor was composed of short, intersecting fascicles of myofibroblastic cells in a loose myxoid matrix, with keloidal hyalinization and admixed osteoclastic giant cells, all characteristic of nodular fasciitis. However, it additionally exhibited striking nuclear pleomorphism, a feature not compatible with conventional nodular fasciitis. Fluorescence in situ hybridization demonstrated a USP6 translocation, confirmed by next-generation sequencing to be the novel CALD1-USP6 fusion. No other somatic or germline mutations were detected. This case adds to the expanding morphologic and molecular genetic spectrum of nodular fasciitis.
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Acknowledgements
The authors would like to thank colleagues from Berlin, Germany: Dr U. Zimmermann (Pathologist, Vivantes Klinikum am Urban) for kindly sending this case in consultation to C.D.M.F., and Prof Dr. B. Tillig (Pediatric surgeon, Vivantes Klinikum Neukölln) for kindly providing clinical details.
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D.J.P. and C.D.M.F. conceived of and drafted the manuscript. A.M.O. and M.M.C. developed and undertook the FISH testing and interpreted the next generation sequencing. All authors critically reviewed and approved the manuscript.
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Papke, D.J., Oliveira, A.M., Chou, M.M. et al. Morphologically malignant nodular fasciitis with CALD1-USP6 fusion. Virchows Arch 479, 1007–1012 (2021). https://doi.org/10.1007/s00428-021-03149-8
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DOI: https://doi.org/10.1007/s00428-021-03149-8