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与TPM3::NTRK1融合相关的状细胞肉瘤的晚期复发

Xenia Parisi¹, Anindita Ghosh¹, Wei-Lien Wang²

¹Department of Hematopathology, The University of Texas MD Anderson Cancer Center Division of Pathology and Laboratory Medicine, Houston, TX, USA.

International journal of surgical pathology

|June 10, 2025

概括

一种罕见的状细胞肉瘤与NTRK1基因融合重复超过20年后. 使用larotrectinib的向治疗导致了40个月的缓解期,突出了这些儿科瘤的NTRK抑制剂.

科学领域:

在瘤学瘤学.
分子病理学分子病理学
遗传学遗传学是一个

背景情况:

状细胞瘤是一种多样化的瘤群.
在各种癌症中,NTRK基因融合是罕见的,但可操作的变异.
世卫组织的分类现在包括NTRK重新排列的状细胞瘤.

研究的目的:

报告一个晚期复发的螺旋细胞肉瘤与NTRK1融合的病例.
突出针对性治疗在NTRK重组瘤中的潜力.
提高人们对这种罕见的瘤类别及其管理的认识.

主要方法:

一个患有复发性状细胞肉瘤的病人的病例报告.
组织病理学和分子分析 (TPM3::NTRK1融合检测).
使用拉罗特雷克提尼布 (一种NTRK抑制剂) 的治疗.

主要成果:

一名31岁的患者有手部肉瘤病史,出现了转移后的晚期复发.
分子测试显示了TPM3::NTRK1的融合.
患者在使用larotrectinib时实现了40个月的缓解.

结论:

经过NTRK重组的状细胞瘤可以出现晚期复发和转移.
用NTRK抑制剂进行向治疗对这些瘤有效.
早期识别NTRK融合对于指导治疗决策至关重要.

关键词:

俄罗斯国家广播电视台 (NTRK)拉洛特雷克提尼布 (Larotrectinib) 是一种药物.受体氨酸激酶通路的受体.肉瘤肉瘤是一种肉瘤.螺旋细胞是指螺旋细胞的细胞.

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