Abstract
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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Acknowledgments
The authors thanked Dr. C. Charon-Barra and Dr. R. Boidot for NGS data.
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CB conceived the study, analyzed and acquired the data, then critically reviewed and revised the manuscript.
HN analyzed the data and wrote the manuscript.
AH summarized bibliography of all published cases.
CT refined radiological description and images.
NM analyzed the data, critically reviewed and revised the manuscript.
JLJ and JCG acquired clinical data and critically reviewed the manuscript.
JBM and FLL acquired and analyzed the data, then critically reviewed and revised the manuscript.
All authors gave final approval for publication.
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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 478, 597–603 (2021). https://doi.org/10.1007/s00428-020-02859-9
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DOI: https://doi.org/10.1007/s00428-020-02859-9