赵雪臻;肖娟;苟丽娟;李冀;胡明明;李明;王长燕;王晨;王琳;
ZHAO Xue-zhen;XIAO Juan;GOU Li-juan;LI Ji;HU Ming-ming;LI Ming;WANG Chang-yan;WANG Chen;WANG Lin;Department of Pediatrics,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College;Department of Endocrinology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College;

• 1:中国医学科学院 北京协和医学院 北京协和医院儿科
• 2:中国医学科学院 北京协和医学院 北京协和医院内分泌科

摘要(Abstract)：

目的探讨儿童原发性脊髓生殖细胞瘤的临床特点、诊断、治疗及预后。方法报道1例儿童原发于脊髓的混合性生殖细胞瘤,目前国内外未见此类报道,并对儿童原发性脊髓生殖细胞瘤的相关文献进行复习和分析。结果 5岁男孩临床主要表现为臀部疼痛进行性加重,性早熟,血清及脑脊液甲胎蛋白、β-人绒毛膜促性腺激素明显升高,磁共振成像示L2-3水平椎管内占位,组织病理示椎管内混合性生殖细胞瘤(生殖细胞瘤+畸胎瘤)。采用18F-脱氧葡萄糖正电子发射计算机断层显像可协助显示病灶,并通过监测最大标准摄取值的变化评估疗效及监测病情有无复发。该患儿放疗效果差,化疗效果尚好。结论儿童生殖细胞瘤原发于脊髓非常罕见,临床表现与累及的脊髓节段相一致,应当与原发于脊髓其他肿瘤相鉴别。单纯性儿童原发性脊髓生殖细胞瘤对放、化疗均敏感,预后较好。
Objective To investigate the clinical features,diagnosis,treatment and prognosis of primary intramedullary spinal cord germinoma( PISCG) in children. Methods One child with primary intramedullary spinal cord mixed germinoma was reported in this article. To our knowledge,there has been no previous report of such cases at home and abroad. The related literature of PISCG was reviewed and analyzed. Results The clinical manifestations of the 5-year-old boy included the progression of hip pain and precocious puberty.Alpha-fetoprotein( AFP) and β-human chorionic gonadotrophin( β-HCG) levels elevated obviously in serum and cerebrospinal fluid. Magnetic resonance imaging( MRI) demonstrated an intraspinal mass extending from L2 to L3. Histopathological examination showed mixed germinoma( germinoma and teratoma). 18F-fluorodeoxyglucose positron emission tomography( 18F-FDG-PET) was applied to help displaying the lesion,evaluating therapeutic effect and monitoring recurrence via the maximum standardized uptake value( SUVmax). The child responded poor to radiotherapy,while fair to chemotherapy. Conclusions PISCG in children is extremely rare. Its clinical manifestations are consistent with the involved segments of the spinal cord and should be differentiated from other primary tumors in spinal cord. Simple PISCG in children is sensitive to radiotherapy andchemotherapy,with generally favorable prognosis.

关键词(KeyWords)： 脊髓;混合性生殖细胞瘤;儿童
spinal cord;mixed germinoma;children

Abstract:

Keywords:

基金项目(Foundation):

作者(Authors): 赵雪臻;肖娟;苟丽娟;李冀;胡明明;李明;王长燕;王晨;王琳;
ZHAO Xue-zhen;XIAO Juan;GOU Li-juan;LI Ji;HU Ming-ming;LI Ming;WANG Chang-yan;WANG Chen;WANG Lin;Department of Pediatrics,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College;Department of Endocrinology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences & Peking Union Medical College;

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