journal article·2025-07Open access

Single‐Cell Analysis Clarifies Pathological Heterogeneity in Tenosynovial Giant Cell Tumor and Identifies Biomarkers for Predicting Disease Recurrence

Yubin Xie, Chen Chen, Fei Wu, Yiman Peng, Jing Su, Yang Zhao, Hongjie Huang, Zhong Alan Li, Yin Pei, Wencui Li, Yi He, Tianchen Xue, Chenxi Cao, Sui Peng, Xin Zhang, Weidong Song

Advanced Science· Volume 12· Issue 26

Abstract

Abstract Diffuse‐type tenosynovial giant cell tumor (D‐TGCT) and localized‐type tenosynovial giant cell tumor (L‐TGCT) share common genomic aberrations and histopathological features, but the former has a more aggressive nature and a higher recurrence rate, leading to worse prognoses for patients. In this study, single‐cell RNA sequencing (scRNA‐seq) on human D‐TGCT and L‐TGCT lesions is conducted to discover transcriptional differences. A unique cluster of tumor cells in D‐TGCT is identified that regulated differentiation of CD34 + fibroblasts into MMP 3 + fibroblasts or APOE + fibroblasts via COL6A3 − (ITGAV + ITGB8) interaction. The APOE + fibroblasts further activated IL‐1B + CCL20 + macrophages through the CXCL12/CXCR4 axis. IL‐1B + CCL20 + macrophages and MMP3 + fibroblasts participated in local aggression of D‐TGCT. Two effective biomarkers, ROR1 and PRKD1 are also identified and validated, to predict disease recurrence. This study not only clarified the underlying mechanisms of aggressive behavior in D‐TGCT but also provided a theoretical basis and potential targets for intervention into and treatment of this disease.
Source: crossref · Quality: baseline

Research context

OpenAlex topics: Musculoskeletal synovial abnormalities and treatments · Cutaneous lymphoproliferative disorders research · Plant and Fungal Interactions Research

SciVX discovery tags are terminology-based. OpenAlex topics are source-provided classifications.

Affiliations

Institute of Precision Medicine The First Affiliated Hospital Sun Yat‐sen University Guangzhou Guangdong 518000 P. R. China

Trauma Orthopedics Foot and Ankle Surgery Sun Yat‐Sen Memorial Hospital Sun Yat‐Sen University 107 Yanjiangxi Road Guangzhou Guangdong 510120 P. R. China

Department of Sports Medicine Peking University Third Hospital 49 North Garden Road, Haidian District Beijing 100191 P. R. China

Department of Pathology School of Basic Medical Sciences Peking University Third Hospital Peking University Health Science Center Beijing 100191 P. R. China

Department of Laboratory Medicine Peking University Third Hospital 49 North Garden Road, Haidian District Beijing 100191 P. R. China

Department of Biomedical Engineering The Chinese University of Hong Kong Hong Kong SAR 999077 China

Hand and Foot Surgery Department The First Affiliated Hospital of Shenzhen University Shenzhen Second People's Hospital Shenzhen Guangdong 518035 P. R. China

Emergency Trauma Center Fifth Affiliated Hospital of Guangzhou Medical University Guangzhou Guangdong 510700 P. R. China

Department of Pathology The First Affiliated Hospital Sun Yat‐sen University Guangzhou Guangdong 518000 P. R. China

Department of Gastroenterology and Hepatology Sun Yat‐sen University First Affiliated Hospital Guangzhou Guangdong 518000 P. R. China

Clinical Trials Unit The First Affiliated Hospital Sun Yat‐sen University Guangzhou 518000 P. R. China

Funding

National Key Research and Development Program of China · National Natural Science Foundation of China

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