Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children and young people. Despite the advances in multimodality treatment over recent decades through successive prospective clinical trials, improved rates of survival for patients are mainly limited to those with localised RMS without adverse biologic features. Current clinicopathologic prognostic factors includePAX3(7)::FOXO1fusion status, the site of primary disease, the pre-chemotherapy extent of disease (including microscopic vs. macroscopic residual disease, locoregional nodal involvement and metastatic status), tumour size and patient age. These factors are used to stratify patients into prognostic risk groups that guide treatment intensity and duration. Risk stratification algorithms are evolving, supported by advances in molecular biology and cancer genomics. In this review we focus on the poorest prognostic groups of paediatric-type RMS (i.e., Very High Risk or relapsed/progressive disease). These include patients whose tumours harbour poor biological characteristics such asPAX3(7)::FOXO1fusion-positive tumours with locoregional nodal involvement and tumours harbouring other poor-risk genetic variants (particularlyMYOD1andTP53variants); adolescent and young adult patients; newly diagnosed patients with metastatic RMS; and patients with relapsed and refractory disease. Here we aim to describe the clinical characteristics of these patients, outline current standard multimodality treatments in the context of sequential international clinical trials across the major cooperative groups and summarise emerging novel diagnostic and therapeutic approaches.
横纹肌肉瘤（RMS）是儿童和青少年中最常见的软组织肉瘤。尽管近几十年来通过连续的前瞻性临床试验在多模式治疗方面取得了进展，但患者生存率的提高主要局限于那些无不良生物学特征的局限性RMS患者。目前临床病理预后因素包括PAX3(7)::FOXO1融合状态、原发部位、化疗前疾病范围（包括显微镜下与肉眼可见的残留病变、局部淋巴结受累和转移状态）、肿瘤大小和患者年龄。这些因素用于将患者分层为预后风险组，以指导治疗强度和持续时间。风险分层算法正在不断发展，并得到分子生物学和癌症基因组学进展的支持。在本综述中，我们重点关注儿科型RMS中预后最差的群体（即极高风险或复发/进展性疾病）。这些包括肿瘤具有不良生物学特征的患者，如PAX3(7)::FOXO1融合阳性且伴有局部淋巴结受累的肿瘤，以及携带其他高风险基因变异（特别是MYOD1和TP53变异）的肿瘤；青少年和年轻成年患者；新诊断的转移性RMS患者；以及复发和难治性疾病患者。本文旨在描述这些患者的临床特征，概述在主要合作组连续国际临床试验背景下的当前标准多模式治疗，并总结新兴的诊断和治疗方法。
Childhood, Adolescent and Young Adult Poor-Prognosis Rhabdomyosarcoma
肿瘤(癌症)患者之家