Pediatric neoplasms with a myofibroblastic differentiation are frequent in children, in particular myofibroma. Recently, a novel deep soft tissue myofibroblastic neoplasm has been described with high cellularity, a smooth muscle phenotype and SRF-RELA fusion. We report the case of a 15-year-old boy who presented with a tumor of the deep soft tissue of the arm, with overlapping histological features with the recently described SRF-RELA group of myofibromas but differing by the presence of calcifications, a novel SRF-STAT6 fusion transcript and nuclear expression of STAT6. No local recurrence nor distant metastasis was detected at the current follow-up of 29 months. The clinical relevance of this novel fusion requires further investigations.
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The authors thanked Dr. C. Charon-Barra and Dr. R. Boidot for NGS data.
This manuscript is a report of one case with a review of the literature. Research work with human and animal subjects was not conducted in preparation of this manuscript.
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Nihous, H., Macagno, N., Baud-Massière, J. et al. Genetic variant of SRF-rearranged myofibroma with a misleading nuclear expression of STAT6 and STAT6 involvement as 3′ fusion partner. Virchows Arch (2020). https://doi.org/10.1007/s00428-020-02859-9
- Smooth muscle neoplasm
- Myofibroblastic proliferation