RBPMS-NTRK3融合基因阳性的腹膜后婴儿型纤维肉瘤1例

周心毅; 姜健; 王玲珍; 郭峻宏

doi:10.7499/j.issn.1008-8830.2504143

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中国当代儿科杂志 ›› 2025, Vol. 27 ›› Issue (12) : 1544-1548. DOI: 10.7499/j.issn.1008-8830.2504143

病例报告

RBPMS-NTRK3融合基因阳性的腹膜后婴儿型纤维肉瘤1例

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A case report of retroperitoneal infantile fibrosarcoma with RBPMS-NTRK3 fusion gene positivity

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摘要

患儿，女，3月龄，因哭闹不止3 d入院。检查发现腹膜后巨大肿块，生长迅速，难以手术切除，肿块穿刺活检病理诊断为婴儿型纤维肉瘤。先给予长春新碱-放线菌素D-环磷酰胺方案化疗，效果不佳。婴儿型纤维肉瘤常见突变为ETV6-NTRK3基因融合，通过二代基因组测序技术检出该患儿为RBPMS-NTRK3基因融合，为国内首例该突变婴儿型纤维肉瘤患者，使用拉罗替尼治疗后，肿块明显缩小。

Abstract

A 3-month-old female infant was admitted for incessant crying for 3 days. Examination revealed a rapidly growing massive retroperitoneal mass that was difficult to resect. Needle biopsy confirmed infantile fibrosarcoma. Initial chemotherapy with the VAC regimen (vincristine, actinomycin D, and cyclophosphamide) was administered, but the response was poor. The common fusion in infantile fibrosarcoma is ETV6-NTRK3, and next-generation sequencing detected an RBPMS-NTRK3 gene fusion in this patient. To our knowledge, this is the first reported case of infantile fibrosarcoma with RBPMS-NTRK3 fusion in China. Treatment with larotrectinib resulted in marked tumor shrinkage.

导出引用

周心毅, 姜健, 王玲珍, 等. RBPMS-NTRK3融合基因阳性的腹膜后婴儿型纤维肉瘤1例[J]. 中国当代儿科杂志. 2025, 27(12): 1544-1548 https://doi.org/10.7499/j.issn.1008-8830.2504143

Xin-Yi ZHOU, Jian JIANG, Ling-Zhen WANG, et al. A case report of retroperitoneal infantile fibrosarcoma with RBPMS-NTRK3 fusion gene positivity[J]. Chinese Journal of Contemporary Pediatrics. 2025, 27(12): 1544-1548 https://doi.org/10.7499/j.issn.1008-8830.2504143

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