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

Nihous Hugo (1) , Nicolas Macagno (1, 2) , Baud-Massière Jessica (3) , Haffner Aurélie (1) , Jouve Jean-Luc (2) , Gentet Jean-Claude (2) , Touzery Camille (4) , François Le Loarer (3) , Corinne Bouvier (1)

1 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille
2 TIMONE - Hôpital de la Timone [CHU - APHM]
3 Institut Bergonié [Bordeaux]
4 Hôpital Nord [CHU - APHM]

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.

Mots clés: SRF; RELA; STAT6; pediatric; leiomyoma; smooth muscle neoplasm; myofibroma; myopericytoma; myofibroblastic proliferation; Pediatric; Leiomyoma; Smooth muscle neoplasm; Myofibroma; Myopericytoma; Myofibroblastic proliferation

Domaines: Médecine humaine et pathologie; Génétique

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, 2020, ⟨10.1007/s00428-020-02859-9⟩. ⟨hal-03151963⟩