Genetic variant of SRF-rearranged myofibroma with a misleading nuclear expression of STAT6 and STAT6 involvement as 3′ fusion partner - Archive ouverte HAL Access content directly
Journal Articles Virchows Archiv Year : 2020

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

(1) , (1, 2) , (3) , (1) , (2) , (2) , (4) , (3) , (1)
1
2
3
4

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.
Fichier principal
Vignette du fichier
MAJ Genetic variant of SRF-rearranged myofibroma with a misleading nuclear expression of STAT6 and STAT6 involvement as 3' fusion partner.pdf (1.39 Mo) Télécharger le fichier
Origin : Files produced by the author(s)

Dates and versions

hal-03151963 , version 1 (02-03-2021)

Identifiers

Cite

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⟩
47 View
110 Download

Altmetric

Share

Gmail Facebook Twitter LinkedIn More