婴儿型半球胶质瘤合并NTRK1融合1例。

Mekka R Garcia, Lena Bell, Claire Miller, Devorah Segal
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引用次数: 0

摘要

儿童中枢神经系统肿瘤在婴儿中的发病率约为每10万名儿童中有6名。最近的研究表明,10%的幼童非脑干高级别胶质瘤复发性融合神经营养酪氨酸受体激酶(NTRK)基因,提示NTRK融合基因具有致癌作用。在本报告中,我们提出了一个罕见的,严重的足月新生儿,出生时被注意到有广泛的裂开的缝合线和膨出的囟门,被发现患有婴儿型半球胶质瘤,合并NTRK1融合,病程并发癫痫,药物治疗难治。由于肿块的大小,患者被认为不适合手术,因此父母选择了舒适的护理。
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A Case of Infant-Type Hemispheric Glioma with NTRK1 Fusion.

The incidence of childhood central nervous system tumors in infants is about 6 per 100 000 children. Recent studies have showed recurrent fusion of the neurotrophic tyrosine receptor kinase (NTRK) gene in 10% of non-brainstem high grade glioma in very young children suggesting an oncogenic effect of the NTRK fusion genes. In this report, we present a rare, severe case of a full-term neonate who was noted to have widely splayed sutures and a bulging fontanelle at birth who was found to have infant-type hemispheric glioma with NTRK1 fusion with course complicated by seizures refractory to medical treatment. Patient was deemed a poor surgical candidate due to the size of the mass and thus parents opted for comfort care.

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