Department of Radiology, the First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China.
Department of Pathology, the First Affiliated Hospital of Sun Yat-sen University, 58th, The Second Zhongshan Road, Guangzhou, Guangdong, China.
BMC Neurol. 2020 Apr 6;20(1):123. doi: 10.1186/s12883-020-01679-3.
A new type of epileptogenic tumor, the polymorphous low-grade neuroepithelial tumor of the young (PLNTY) was firstly reported by Jason T. Huse et al. at 2016. After that, only 1 case of PLNTY was reported by article. The radiological characteristics of PLNTY have not been concluded. The objective of our study was to report 3 cases of PLNTYs in details and to analyze the image characteristics and genetic alterations of PLNTYs by reviewing our cases and articles.
There were 3 cases diagnosed as PLNTY by pathology in our hospital during the last 10 years, with the average age of 15. They were all suffered from different degrees of epilepsy. All of them underwent magnetic resonance (MR) imaging and 2 of them underwent computer tomography (CT) imaging. The PLNTYs are all appearing as a solid or solid-cystic cortical mass with little mass effect and unclear boundary with normal brain tissue. They are all shown as hyperintensity in T2WI and iso-/hypointensity in T1WI with slight or no enhancement after contract enhanced in MR imaging. The "salt and pepper sign" in T2WI and grit calcification in CT images might be specific characteristics of PLNTY. All of them recovered after excision of the tumors. The gene tests revealed fibroblast growth factor receptors 3 (FGFR3)-TACC3 fusion and FGFR3 amplification in one case, and the B-Raf proto-oncogene (BRAF) V600E mutation in another case.
In the image, the partial ill-marginated cortical mass with "salt and pepper sign" in T2WI or grit calcification in CT imaging might be the typical imaging characteristics of PLNTY. We also prove that the BRAF V600E mutation as well as the FGFR2 and FGFR3 have a close relationship with PLNTY.
2016 年，Jason T. Huse 等人首次报道了一种新型致痫性肿瘤，即年轻多形性低度神经上皮肿瘤（PLNTY）。此后，仅通过文献报道了 1 例 PLNTY。PLNTY 的放射学特征尚未得出结论。本研究的目的是详细报告 3 例 PLNTY，并通过回顾我们的病例和文献分析 PLNTY 的影像学特征和基因改变。
在过去的 10 年中，我院有 3 例病理诊断为 PLNTY 的患者，平均年龄为 15 岁。他们都患有不同程度的癫痫。所有患者均行磁共振成像（MR）检查，其中 2 例行计算机断层扫描（CT）检查。PLNTY 均表现为实性或实性囊性皮质肿块，占位效应较轻，与正常脑组织边界不清。MR 成像增强后，T2WI 呈高信号，T1WI 呈等/低信号，轻度或无强化。T2WI 上的“椒盐征”和 CT 图像上的颗粒状钙化可能是 PLNTY 的特异性特征。所有患者均在肿瘤切除后康复。基因检测显示，1 例存在成纤维细胞生长因子受体 3（FGFR3）-TACC3 融合和 FGFR3 扩增，另 1 例存在 B-Raf 原癌基因（BRAF）V600E 突变。
在影像学上，部分边界不清的皮质肿块在 T2WI 上呈“椒盐征”或 CT 图像上呈颗粒状钙化可能是 PLNTY 的典型影像学特征。我们还证明，BRAF V600E 突变以及 FGFR2 和 FGFR3 与 PLNTY 密切相关。
