根据不同的分期系统，患有转移性神经母细胞瘤 (NB) 的婴儿的风险分层随着时间的推移从 4/M 或 IVs/4S/MS/Ms 阶段演变而来。尽管在一些遗传畸变方面取得了这些进展，但婴儿软组织转移的预后价值和影响尚未完全了解，也没有在不同的分类系统中得到很好的描述，这阻碍了统一治疗患者和预测预后的定义。在一名 8 个月大的男孩被诊断​​为 NB 时，对患有 M/MS 疾病的婴儿进行了分期的文献综述，该男孩表现为软组织中的非典型转移部位和异常的肿瘤生物学。对 4/4S/4s/M/MS/Ms 阶段的定义进行了评估和比较，以实现肿瘤风险分层并为管理提供信息。国际 NB 小组对转移性 NB 婴儿的分期定义标准不同，导致管理上存在差异。关于软组织转移，特别是肌肉转移的文献有限，并且主要由于缺乏数据而未能很好地纳入管理指南。罕见遗传异常的不确定预后可能会增加治疗决策的困难。在一些罕见的婴儿 NB 病例中，国际治疗分类不足以做出分期和治疗决策。根据肿瘤进展、意义不明的生物学特征以及缺乏对 12 个月以下儿童 NB 和多发性肌肉转移进行分类的证据，该患者接受了 4/M 期和中等风险方案的治疗，并取得了良好的结果。© 2023作者。由巴塞尔 S. Karger AG 出版。

The risk stratification of infants with metastatic neuroblastoma (NB) has evolved over time from stage 4/M or IVs/4S/MS/Ms according to various staging systems. Despite these developments for some genetic aberrations, the prognostic value and the impact of soft tissue metastases in infants are not fully understood, nor well described in the different classification systems, hampering the definitions to uniformly treat patients and predict prognosis. A literature review on staging of infants with M/MS disease was performed at the occasion of the diagnosis of NB in an 8-month-old boy who presented with atypical metastatic sites in soft tissue and an aberrant tumor biology. The definitions of stage 4/4S/4s/M/MS/Ms were evaluated and compared to enable tumor risk stratification and inform management. International NB groups use different criteria for defining stage of infants with metastasized NB, resulting in differences in management. Limited literature is available on soft tissue metastases, especially muscular metastases, and is poorly incorporated into management guidelines mainly due to the lack of data. The uncertain prognosis of rare genetic aberrancies may add to the difficulties in treatment decisions. In some rare cases of NB in infants, the international treatment classification is not sufficient for staging and treatment decisions. Based on tumor progression, biology of unknown significance and a lack of evidence to classify a child under 12 months with NB and multiple muscular metastases, the patient was treated as stage 4/M and intermediate-risk protocols with a favorable outcome.© 2023 The Author(s). Published by S. Karger AG, Basel.