Unraveling syndrome-driven osteosarcoma: genetic insights and therapeutic frontiers

TL;DR

This review explores how hereditary syndromes contribute to osteosarcoma, highlighting their unique features and challenges in diagnosis and treatment.

Contribution

The paper systematically reviews clinical and molecular aspects of syndrome-related osteosarcomas, offering insights for future research and clinical practice.

Findings

Syndrome-related osteosarcomas are linked to specific gene mutations and chromosomal instability.

These tumors present unique clinical features and therapeutic challenges due to their rarity and heterogeneity.

Current understanding is limited by difficulties in early detection and incomplete molecular elucidation.

Abstract

Osteosarcoma is a highly malignant bone tumor, and a subset of cases is closely associated with hereditary syndromes. These syndrome-related osteosarcomas exhibit unique clinical features, molecular mechanisms, and therapeutic challenges. This review summarizes the current understanding of specific types of syndrome-related osteosarcomas, including those associated with Rothmund-Thomson syndrome, Li-Fraumeni syndrome, secondary osteosarcoma in retinoblastoma survivors, Werner syndrome, and Bloom syndrome. These syndromes are typically characterized by specific gene mutations or chromosomal instability, significantly increasing the risk of osteosarcoma development. However, the rarity and heterogeneity of syndrome-related osteosarcomas pose significant challenges for diagnosis and treatment, including difficulties in early detection, incomplete elucidation of molecular mechanisms, and limitations of conventional therapeutic approaches. This article aims to systematically review the clinical characteristics, molecular mechanisms, and therapeutic challenges of these syndromes, providing a comprehensive reference for clinicians and directions for future research.