Scientific article
Case report
English

Targeted RNA-sequencing identifies FBXW4 instead of MGEA5 as fusion partner of TGFBR3 in pleomorphic hyalinizing angiectatic tumor

Published inVirchows Archiv
Publication date2019
Abstract

Pleomorphic hyalinizing angiectatic tumor (PHAT) is a rare mesenchymal tumor of intermediate malignancy. PHAT, and the related hemosiderotic fibrolipomatous tumor, show a recurrent t(1;10)(p22;q24). Fluorescence in situ hybridization (FISH) and BAC (bacterial artificial chromosome) clones have previously identified TGFBR3 and MGEA5 as fusion partners. However, targeted RNA-sequencing allowed for the correct identification of FBXW4 and not MGEA5 as the fusion partner of TGFBR3 in a subcutaneous PHAT, a finding further confirmed by RT-PCR. FBXW4 and MGEA5 share a common cytogenetic location at 10q24.32, thereby suggesting that the use of less precise technology may have led to inaccurate gene identification. The study of additional cases is however required.

Citation (ISO format)
ROUGEMONT-PIDOUX, Anne-Laure et al. Targeted RNA-sequencing identifies FBXW4 instead of MGEA5 as fusion partner of TGFBR3 in pleomorphic hyalinizing angiectatic tumor. In: Virchows Archiv, 2019. doi: 10.1007/s00428-019-02556-2
Main files (1)
Article (Published version)
accessLevelRestricted
Identifiers
Journal ISSN0945-6317
399views
0downloads

Technical informations

Creation29/03/2019 16:59:00
First validation29/03/2019 16:59:00
Update15/03/2023 17:42:38
Status update15/03/2023 17:42:37
Last indexation31/10/2024 13:41:15
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack