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一名年轻成人起源于听神经的非典型畸胎样/横纹肌样瘤(AT/RT):病例报告及文献复习

Atypical teratoid/rhabdoid tumor (AT/RT) arising from the acoustic nerve in a young adult: a case report and a review of literature.

作者信息

Wang Xingfu, Liu Xueyong, Lin Zhixiong, Chen Yupeng, Wang Pengcheng, Zhang Sheng

机构信息

From the Department of Pathology (XW, XL, YC, PW, SZ); and Department of Neurosurgery (XL), the First Affiliated Hospital of Fujian Medical University, Fuzhou, China.

出版信息

Medicine (Baltimore). 2015 Jan;94(4):e439. doi: 10.1097/MD.0000000000000439.

Abstract

Atypical teratoid/rhabdoid tumors (AT/RTs) are rare, highly malignant central nervous system tumors that predominantly occur in young children. A 22-year-old woman presented with a 4-year history of relapsing tinnitus and gradual hearing loss. Neuroimaging revealed an enhanced intrinsic left internal auditory canal mass. The patient underwent radiotherapy treatment. Three years later, the tumor size continued to increase, as observed by imaging, and ultimately evolved into the left cerebellopontine angle. As a consequence, a total tumor resection was performed, and a pathological diagnosis of AT/RT was made. Aggressive radiotherapy and chemotherapy treatment continued; however, the tumor recurred within 11 months after the total tumor resection. The patient died within 4 months of the second operation. Histopathologically, the tumor contained characteristic rhabdoid cells with areas that resembled a classical primitive neuroectodermal tumor. Immunostaining showed loss of INI1 protein expression in tumor cells, and fluorescence in situ hybridization showed a hemizygous deletion of the hSNF5/INI1 gene region on 22q11.2. This is the first report of an AT/RT that arised from the acoustic nerve in a young adult. Despite manifold diagnostic and therapeutic advances, the prognosis of patients with AT/RT remains poor.

摘要

非典型畸胎样/横纹肌样瘤(AT/RTs)是罕见的、高度恶性的中枢神经系统肿瘤,主要发生于幼儿。一名22岁女性有4年复发性耳鸣和渐进性听力丧失病史。神经影像学检查发现左侧内耳道有一强化的实质性肿块。患者接受了放射治疗。3年后,影像学检查显示肿瘤大小持续增大,最终发展至左侧桥小脑角。因此,进行了肿瘤全切术,并作出了AT/RT的病理诊断。继续进行积极的放疗和化疗;然而,肿瘤在全切术后11个月内复发。患者在第二次手术后4个月内死亡。组织病理学检查显示,肿瘤含有特征性的横纹肌样细胞,部分区域类似经典的原始神经外胚层肿瘤。免疫组化显示肿瘤细胞中INI1蛋白表达缺失,荧光原位杂交显示22q11.2上hSNF5/INI1基因区域半合子缺失。这是第一例发生于青年成人听神经的AT/RT报告。尽管在诊断和治疗方面取得了诸多进展,但AT/RT患者的预后仍然很差。

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