- 4 周龄婴儿，快速进展的颈髓病；肿瘤原发于脊髓髓内。
- 镜下为梭形细胞肿瘤，S100 与 pan-TRK 弥漫表达。
- RNA 测序检出 RBPMS::NTRK3 融合（非经典 ETV6::NTRK3）；RNA 聚类与 DNA 甲基化谱均归为婴儿型纤维肉瘤（IFS）；拉罗替尼治疗 1 个月内临床与影像显著恢复。
收录范围：PubMed 英文摘要及中文翻译（abstract-only）。原文为 CC BY 4.0 开放获取，但 Wiley 全文页与 PDF 对本站出口持续返回 Cloudflare 验证页，未能采集全文及图表。
摘要
我们报道一例原发髓内婴儿型纤维肉瘤（IFS），患儿为 4 周龄婴儿，表现为快速进展的颈髓病。组织学表现为梭形细胞肿瘤，S100 与 pan-TRK 弥漫表达。RNA 测序鉴定出 RBPMS::NTRK3 融合。基于 RNA 的聚类及 DNA 甲基化谱分析均将该肿瘤归类为 IFS。使用 TRK 抑制剂拉罗替尼（larotrectinib）治疗后，1 个月内即取得显著的临床与影像学恢复。本例扩展了 NTRK 重排肉瘤的谱系，并证实 TRK 抑制在原发中枢神经系统 IFS 中的疗效。
- A 4-week-old infant with rapidly progressive cervical myelopathy; the tumour was primary intramedullary.
- Spindle cell tumour with diffuse S100 and pan-TRK expression.
- RNA sequencing found an RBPMS::NTRK3 fusion; RNA-based clustering and DNA methylation profiling classified it as IFS; larotrectinib produced marked clinical and radiological recovery within 1 month.
Scope: PubMed abstract only. The article is open access (CC BY 4.0), but the Wiley full-text page and PDF returned a Cloudflare challenge from this site’s egress, so full text, figures and tables were not collected.
Abstract
We report a case of primary intramedullary infantile fibrosarcoma (IFS) in a 4-week-old infant with rapidly progressive cervical myelopathy. Histology showed a spindle cell tumour with diffuse S100 and pan-TRK expression. RNA sequencing identified an RBPMS::NTRK3 fusion. RNA-based clustering and DNA methylation profiling classified the tumour as IFS. Treatment with the TRK inhibitor, larotrectinib, achieved marked clinical and radiological recovery within 1 month, expanding the spectrum of NTRK-rearranged sarcomas and confirming TRK inhibition's efficacy in primary central nervous system IFS.