Novel partners of USP6 gene in a spectrum of bone and soft tissue lesions

In this study on a series of 77 tumors (28 nodular fasciitis, 42 aneurysmal bone cysts, and 7 myositis ossificans) from the database of the French Sarcoma Group, we describe 7 new partners of theUSP6 gene. For this purpose, rearrangements were first researched by multiplexed RT-qPCRs in the entire population. A targeted RNA sequencing was then used on samples selected according to a highUSP6-transcription level expression estimated by RT-qPCR. Thanks to this multistep approach, besides the commonUSP6 fusions observed, we detected novelUSP6 partners:PDLIM7 andMYL12A in nodular fasciitis andTPM4,DDX17,GTF2I,KLF3, andMEF2A in aneurysmal bone cysts. In order to try to bring to light the role played by the recently identifiedUSP6 partners in this lesional spectrum, their functions are discussed. Taking into account that a traumatic participation has long been mentioned in the histogenesis of most of these lesions and because of their morphological resemblance to organizing granulation reparative tissue or callus, a focus is placed on their relationship with tissue remodeling and, to a lesser extent, with bone metabolism.

Source: Virchows Archiv - February 9, 2021 Category: Pathology Source Type: research