肉瘤是具有高度可变组织学外观的多种肿瘤，其诊断通常具有挑战性，并且转移性/不可切除疾病的治疗选择有限。许多肉瘤具有独特的分子改变，但改变的范围很大，类型多样且迅速增加，这意味着有限的小组测试无法捕获所需的广泛的临床相关基因组驱动因素。相比之下，配对全基因组测序 (WGS) 可以对小变异、拷贝数和结构变异以及突变特征分析和种系测试进行全面评估。将 WGS 引入为所有符合条件的已知或疑似软组织肉瘤患者的诊断标准在软组织肉瘤治疗中心治疗 2 年。全基因组测序改进了 37% 病例的诊断，确定了 33% 病例的个性化治疗目标，并导致 4% 病例发生种系改变。简介WGS 带来了后勤和培训方面的挑战，但为这组患者带来了显着的好处。© 2024。Crown。

Sarcomas are diverse neoplasms with highly variable histological appearances in which diagnosis is often challenging and management options for metastatic/unresectable disease limited. Many sarcomas have distinctive molecular alterations, but the range of alterations is large, variable in type and rapidly increasing, meaning that testing by limited panels is unable to capture the broad spectrum of clinically pertinent genomic drivers required. Paired whole genome sequencing (WGS) in contrast allows comprehensive assessment of small variants, copy number and structural variants along with mutational signature analysis and germline testing.Introduction of WGS as a diagnostic standard for all eligible patients with known or suspected soft tissue sarcoma over a 2-year period at a soft tissue sarcoma treatment centre.WGS resulted in a refinement in the diagnosis in 37% of cases, identification of a target for personalised therapy in 33% of cases, and a germline alteration in 4% of cases.Introduction of WGS poses logistical and training challenges, but offers significant benefits to this group of patients.© 2024. Crown.