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Genetic variant of SRF-rearranged myofibroma with a misleading nuclear expression of STAT6 and STAT6 involvement as 3′ fusion partner

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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https://hal-amu.archives-ouvertes.fr/hal-03151963
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Submitted on : Tuesday, March 2, 2021 - 3:47:16 PM
Last modification on : Friday, April 30, 2021 - 11:10:36 AM
Long-term archiving on: : Monday, May 31, 2021 - 7:21:20 PM

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Nihous Hugo, Nicolas Macagno, Baud-Massière Jessica, Haffner Aurélie, Jouve Jean-Luc, et al.. Genetic variant of SRF-rearranged myofibroma with a misleading nuclear expression of STAT6 and STAT6 involvement as 3′ fusion partner. Virchows Archiv, Springer Verlag, 2020, ⟨10.1007/s00428-020-02859-9⟩. ⟨hal-03151963⟩

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