Expanding the molecular spectrum of tenosynovial giant cell tumors.

ABSTRACT:

Background

While great advances in clinical and pathological description of tenosynovial giant cell tumors (TGCT) have been made, TGCT molecular heterogeneity represents an ongoing challenge. The canonical oncogenic fusion CSF1::COL6A3 is not systematically observed, suggesting that other oncogenic mechanisms are involved in tumorigenesis. This study aims to explore by RNA sequencing a retrospective series of tumors diagnosed as TGCT, in order to provide a better description of their molecular landscape and to correlate molecular features with clinical data.

Methods

We analyzed clinicopathological data and performed whole-exome RNA sequencing on 41 TGCT samples.

Results

RNAseq analysis showed significant higher CSF1 and CSF1-R expression than a control panel of

SUBMITTER: Gauduchon T 

PROVIDER: S-EPMC9691341 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature