与新型TP53体细胞突变相关的广泛转移性脉络丛癌
Widely Metastatic Choroid Plexus Carcinoma Associated with Novel TP53 Somatic Mutation.
作者信息
Baksh Brandon S, Sinha Namita, Salehi Afshin, Han Rowland H, Miller Brandon A, Dahiya Sonika, Gauvain Karen M, Limbrick David D
机构信息
Department of Neurological Surgery, Washington University School of Medicine, St. Louis, Missouri, USA.
Division of Neuropathology, Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, USA.
出版信息
World Neurosurg. 2018 Nov;119:233-236. doi: 10.1016/j.wneu.2018.07.284. Epub 2018 Aug 9.
BACKGROUND
Choroid plexus carcinoma (CPC) is a rare, malignant tumor occurring more commonly in children than adults. This case report describes the clinical course of a 3-year-old boy with a rare case of metastatic CPC with a novel TP53 mutation.
CASE DESCRIPTION
A 3-year-old boy presented with postconcussive symptoms after a fall. Computed tomography and magnetic resonance imaging revealed lesions in the suprasellar cistern, left lateral ventricle, and cauda equina. The tumor was diagnosed as choroid plexus carcinoma with a novel TP53 V216M somatic mutation. The patient underwent resection of the left lateral ventricle lesion.
CONCLUSION
We describe a case of CPC with highly metastatic characteristics and a novel TP53 mutation. Our report implicates TP53 in the pathogenesis of pediatric CPC, and we emphasize that CPC in children should prompt careful consideration of TP53 status to inform prognosis and clinical treatment.
背景
脉络丛癌（CPC）是一种罕见的恶性肿瘤，在儿童中比成人更常见。本病例报告描述了一名3岁男孩患有罕见的转移性脉络丛癌并伴有新型TP53突变的临床过程。
病例描述
一名3岁男孩在跌倒后出现脑震荡后症状。计算机断层扫描和磁共振成像显示鞍上池、左侧脑室和马尾有病变。肿瘤被诊断为脉络丛癌，伴有新型TP53 V216M体细胞突变。患者接受了左侧脑室病变切除术。
结论
我们描述了一例具有高度转移特征和新型TP53突变的脉络丛癌病例。我们的报告表明TP53在儿童脉络丛癌的发病机制中起作用，并且我们强调儿童脉络丛癌应促使仔细考虑TP53状态以指导预后和临床治疗。
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