Fouladi Maryam, Helton Kathleen, Dalton James, Gilger Elizabeth, Gajjar Amar, Merchant Thomas, Kun Larry, Newsham Irene, Burger Peter, Fuller Christine
Department of Hematology-Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
Cancer. 2003 Nov 15;98(10):2232-44. doi: 10.1002/cncr.11783.
Clear cell ependymoma (CCE) is an uncommon central nervous system tumor with a predilection for the supratentorial region in children. Histologically, it may mimic oligodendroglioma, central neurocytoma, hemangioblastoma, and renal cell carcinoma.
The authors reviewed the clinical, radiographic, and pathologic features, therapy, and outcome in 10 children with CCE who were treated at St. Jude Children's Research Hospital (1984-2003). Fluorescence in situ hybridization (FISH) was performed using 1p/1q, 19p/19q, CEP18/DAL1, and bcr/NF2 probe pairs.
The median patient age at diagnosis was 7.5 years (range, 1-19 years). Tumors occurred supratentorially in 9 of 10 patients. All tumors had rounded nuclei with surrounding, clear halos and at least focal perivascular pseudorosettes. Seven tumors had anaplastic features. No deletions involving 1p, 19q, or NF2 were detected. The tumors from 5 of 7 patients, all with anaplasia, had losses of both CEP18 and DAL-1. Radiographically, all tumors were enhanced, and 9 tumors had associated cysts with enhancing walls. Seven patients underwent gross total resection, which was near total in one patient and subtotal in two patients. Five patients received immediate postoperative local radiotherapy. Three patients were diagnosed initially with pilocytic astrocytoma (one patient) and oligodendroglioma (two patients) and were observed. The progression-free survival and overall survival rates at 5 years were 34% +/- 20% and 75% +/- 19%, respectively. The median follow-up was 37 months (range, 5-239 months). Five patients developed local recurrence within a median of 9 months after diagnosis. Two patients developed extracranial soft tissue and lymph node metastases.
CCEs were found to have a predilection for extraneural metastases and early recurrence and demonstrate characteristic radiographic features, anaplastic histologic features, and chromosome 18 losses. The authors recommend resection followed by local radiotherapy as the treatment of choice in children.
透明细胞室管膜瘤（CCE）是一种罕见的中枢神经系统肿瘤，好发于儿童幕上区域。在组织学上，它可能类似少突胶质细胞瘤、中枢神经细胞瘤、血管母细胞瘤和肾细胞癌。
作者回顾了1984年至2003年在圣裘德儿童研究医院接受治疗的10例CCE患儿的临床、影像学和病理特征、治疗及预后情况。使用1p/1q、19p/19q、CEP18/DAL1和bcr/NF2探针进行荧光原位杂交（FISH）。
诊断时患者的中位年龄为7.5岁（范围1至19岁）。9例肿瘤发生于幕上。所有肿瘤细胞核呈圆形，周围有清晰晕环，至少有局灶性血管周围假菊形团。7例肿瘤具有间变特征。未检测到涉及1p、19q或NF2的缺失。7例患者中有5例的肿瘤均有间变，同时存在CEP18和DAL - 1缺失。影像学上，所有肿瘤均有强化，9例肿瘤伴有囊壁强化的囊肿。7例患者接受了大体全切，其中1例接近全切，2例为次全切。5例患者术后立即接受局部放疗。3例患者最初诊断为毛细胞型星形细胞瘤（1例）和少突胶质细胞瘤（2例）并接受观察。5年无进展生存率和总生存率分别为34%±20%和75%±19%。中位随访时间为37个月（范围5至239个月）。5例患者在诊断后中位9个月内出现局部复发。2例患者出现颅外软组织和淋巴结转移。
发现CCE易发生神经外转移和早期复发，并具有特征性的影像学表现、间变组织学特征和18号染色体缺失。作者推荐手术切除后行局部放疗作为儿童的首选治疗方法。
