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首页> 外文期刊>Neuropathology: official journal of the Japanese Society of Neuropathology >Expanding the spectrum of pediatric NTRK-rearranged fibroblastic tumors to the central nervous system: A case report with RBPMS-NTRK3 fusion
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Expanding the spectrum of pediatric NTRK-rearranged fibroblastic tumors to the central nervous system: A case report with RBPMS-NTRK3 fusion

机译：扩大小儿NTRK重新排列的纤维细胞肿瘤到中枢神经系统：含有RBPMS-NTRK3融合的病例报告

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摘要

We report a case of a 20-month-old male presenting with seizures who was found to have a hyperintense lesion on T2-weighted images of magnetic resonance imaging in the left medial temporal lobe that was initially clinically and radiologically thought to be either low-grade glioma or focal cortical dysplasia. Histologic, immunohistochemical and molecular evaluation (array comparative genomic hybridization, Archer fusion panel) of the resection specimen demonstrated a highly infiltrative fibroblastic spindle cell neoplasm with mild nuclear atypia and an RBPMS-NTRK3 fusion. NTRK-fused mesenchymal tumors are known to involve extracranial sites but, to our knowledge, have not been described within the central nervous system. Accurate and timely diagnosis of this entity has important prognostic and therapeutic implications, as NTRK-fused tumors may recur locally and may respond to selective kinase inhibitor therapies.
机译：我们举报了一个20个月大的男性患有癫痫发作的案例，该癫痫发作是在左侧内侧叶片的磁共振成像的T2加权图像上具有超敏病变，其最初在临床上和放射学上被认为是低的 - 级胶质瘤或局灶性皮质发育不良。 切除试样的组织学，免疫组织化学和分子评估（阵列对比基因组杂交，弓形剂融合面板）表现出高度渗透的纤维细胞肿瘤细胞肿瘤，具有轻度核原型和RBPMS-NTRK3融合。 已知NTRK融合的间充质肿瘤涉及颅脑部位，但尚未在中枢神经系统中描述。 准确且及时诊断该实体具有重要的预后和治疗意义，因为NTRK融合的肿瘤可能在本地反转并且可以反应选择性激酶抑制剂疗法。

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