Medical Oncology Department, Pediatric Oncology Center, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing Key Laboratory of Pediatric Hematology Ocology, Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing, China, 100045.
Imaging Center, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China, 100045.
BMC Pediatr. 2021 Oct 21;21(1):463. doi: 10.1186/s12887-021-02904-9.
The aim of this study was to summarize the clinical characteristics, therapeutic effects and prognosis of patients with rhabdomyosarcoma (RMS) and bone marrow metastasis, improve the understanding of this disease.
This was a single-institution retrospective study involving the children with RMS, who presented with bone marrow metastasis at initial presentation to our hospital between 1st, Jan, 2006 and 31st, Dec,2019. Follow-up concluded on 31st, Dec, 2020 and the clinical data were collected and analysed.
Between 1st Jan 2006 and 31st Dec 2019, 13 eligible patients presented to our hospital, including 10 males and 3 females, these eligible patients accounted for 4.5% of all RMS patients. The median age at onset was 5.6 years (range 1.7-14 years). The patients not only had unfavourable primary sites, but also had multiple metastases. The bone marrow aspirate samples of the patients comprised 8-95% blast-like cells. Nine of 13 patients were misdiagnosed with haematological malignancies or other solid tumours. With respect to histology, four of 13 children were classified as embryonal RMS and nine as alveolar RMS. Eleven patients underwent PAX-FOXO1 fusion testing; eight had the POX- FOXO1 fusion gene. Immunohistochemically(IHC) analysis revealed that the tumour cells were positive for Desmin, Vimentin, Myo-D1 and Myogenin. More importantly, the patients had extremely poor prognoses, the median EFS was 12.0 months (range 3-28.3 months) and the median OS was 27.0 months (range6-46.2 months).
This study demonstrates that children with RMS and bone marrow metastasis usually exhibit atypical primary sites and multiple metastases, with presentation mimicking haematological malignancies or other solid tumors at initial presentation. Pathology and IHC analysis combined with POX-FOXO1 fusion gene detections can effectively confirm the diagnosis. These patients are more likely to relapse or progress during early treatment and are prone to intracranial metastasis. While multidisciplinary therapy combined with Temozolomide may prevent it, further prospective research is required to evaluate the therapeutic effects.
本研究旨在总结初诊时合并骨髓转移的横纹肌肉瘤（RMS）患者的临床特征、疗效和预后，以提高对该病的认识。
这是一项单中心回顾性研究，纳入 2006 年 1 月 1 日至 2019 年 12 月 31 日期间在我院初诊时合并骨髓转移的 RMS 患儿，随访至 2020 年 12 月 31 日，收集并分析其临床资料。
2006 年 1 月 1 日至 2019 年 12 月 31 日期间，共有 13 例符合条件的患者入组，其中男 10 例，女 3 例，占同期 RMS 患儿的 4.5%。中位发病年龄为 5.6 岁（1.7～14 岁）。患儿原发部位不仅不理想，而且存在多发转移，骨髓穿刺标本中原始细胞占 8%～95%。13 例患儿中 9 例误诊为血液系统恶性肿瘤或其他实体瘤。组织学上，4 例为胚胎型 RMS，9 例为腺泡型 RMS。11 例行 PAX-FOXO1 融合基因检测，8 例为 POX-FOXO1 融合基因阳性。免疫组化分析显示肿瘤细胞弥漫表达 Desmin、Vimentin、Myo-D1 和 Myogenin。更重要的是，患儿预后极差，中位无事件生存（EFS）为 12.0 个月（3～28.3 个月），中位总生存（OS）为 27.0 个月（6～46.2 个月）。
本研究表明，初诊时合并骨髓转移的 RMS 患儿常表现为不典型的原发部位和多发转移，起病时类似于血液系统恶性肿瘤或其他实体瘤。病理及免疫组化分析联合 POX-FOXO1 融合基因检测可有效明确诊断。这些患儿在早期治疗时更容易复发或进展，且易发生颅内转移，而替莫唑胺联合多学科治疗可能会预防这种情况，但需要进一步前瞻性研究来评估其疗效。
