Driver Gene and Potential Biomarker Investigation of Desmoid-type Fibromatosis Through RNA-seq Analysis

Desmoid type fibromatosis(DTF), a locally aggressive fibromatosis, lacks clear pathogenesis. RNA-seq analysis of 29 DTF cases identified hub genes like ZNF536, TWIST2, and SHOX2, indicating involvement in fibroblastic proliferation. These genes were validated in other fibrotic diseases. Immunohistochemistry revealed TWIST2 as a promising diagnostic biomarker, emphasizing its potential clinical utility. Desmoid-type fibromatosis (DTF) presents as a locally aggressive yet benign myofibroblastic neoplasm characterized by infiltrative fibroblastic and myofibroblastic proliferation. Although the CTNNB1 mutation suggests involvement of the Wnt/beta-catenin signaling pathway, the precise driver genes and mechanisms driving fibroblastic proliferation remain unclear. To shed light on this, we conducted RNA-seq analysis on 29 DTF cases and 14 reactive fibrosis (RF) samples as controls.