双语病例——松果体生殖细胞瘤
朗读老师：王芳 东莞人民医院
翻译老师：张翠 浙江省立同德医院
审校老师：姜春雷 青岛市第九人民医院
History and MR images
病史和 MR 图像
History: A 20-year-old man with vertical diplopia.
病史：20 岁男性，垂直复视。
A brain MRI scan with and without contrast was performed. Select sagittal and axial T1-weighted, coronal and axial T1-weighted postcontrast, axial T2-weighted, T2-weighted fluid-attenuated inversion-recovery (FLAIR), gradient-recalled echo (GRE), diffusion-weighted (DWI), and apparent diffusion coefficient (ADC) MR images are shown below. Click to enlarge.
患者行平扫及增强颅脑MRI 扫描。矢状位和横断位T1 加权、冠状位和横断位 T1 加权增强、横断位T2 加权、T2 加权流体衰减反转恢复 (FLAIR)、梯度回波 (GRE)、弥散加权 (DWI) 和 表观扩散系数(ADC)图像如下所示。
Findings and diagnosis 结果和诊断
Findings 结果
There is an avidly enhancing, T2-hyperintense midline mass in the pineal region measuring up to 2 cm. It demonstrates restricted diffusion. There is a focus of susceptibility centrally, likely reflecting pineal gland calcification. There is mass effect on the tectum and cerebral aqueduct with edema extending to the dorsal midbrain, cerebral peduncles, and posteromedial thalami. There is mild obstructive hydrocephalus with enlargement of the lateral and third ventricles with mild periventricular signal abnormality.
松果体区发现中线区肿块，2厘米大小，明显强化，T2呈高信号，扩散受限。有一个磁化中心，可能是松果体钙化。肿块对顶盖和中脑导水管有占位效应，水肿延伸至中脑背侧、大脑脚和丘脑腹后内侧核。存在轻度梗阻性脑积水，表现为侧脑室和第三脑室扩大，脑室周围信号轻度异常。
Differential diagnosis鉴别诊断
Pineal germinoma松果体生殖细胞瘤
Pineal cell tumor (pineocytoma World Health Organization grade I)松果体细胞瘤（松果体细胞瘤 WHO I级）
Pineoblastoma松果体母细胞瘤
Tectal astrocytoma顶盖星形细胞瘤
Cysticercosis囊尾蚴病
Craniopharyngioma颅咽管瘤
Diagnosis: Pineal germinoma诊断：松果体生殖细胞瘤
Discussion 讨论
Pineal germinoma松果体生殖细胞瘤
Pathogenesis and epidemiology 发病机制和流行病学
Pineal region tumors represent less than 1% of all intracranial neoplasms and 3% to 8% of tumors in children. Pineal region tumors are most commonly pure benign pineal germinomas (50%), followed by pineal cell origin tumors (pineoblastomas and pineocytomas). Pineal germinomas are also known as dysgerminomas or extra-gonadal seminomas.
松果体区肿瘤占所有颅内肿瘤的不到1%，占儿童肿瘤的 3%至8%。松果体区肿瘤最常见的是单纯良性松果体生殖细胞瘤（50%），其次是起源于松果体细胞肿瘤（松果体母细胞瘤和松果体细胞瘤）。松果体生殖细胞瘤也称为无性细胞瘤或性腺外精原细胞瘤。
They are more common in males (male-to-female ratio of 12:1 in the pineal region and slightly more common for males in the suprasellar region) and have a peak incidence at 10 to 12 years of age.
男性较常见（松果体区男女比例为 12:1，鞍上区男性稍微多见），并且在 10 至 12 岁时发病率最高。
Clinical presentation 临床表现
Symptoms typically include Parinaud syndrome, which is characterized by paralysis of the upward gaze in addition to a loss of accommodation, convergence, and pupillary light reflex. Additional symptoms are typically due to compression of the tectal plate, which results in obstructive hydrocephalus that can cause headaches, nausea, and other associated symptoms.
症状通常包括帕里诺综合征，其特征是向上凝视麻痹，以及调节、会聚和瞳孔对光反射丧失。其他症状通常是由于顶盖板层受压导致的阻塞性脑积水，从而导致头痛、恶心和其他相关症状。
Imaging features 成像特点
Germinomas tend to occur in the midline, pineal recess (50% to 65%), suprasellar region (35% to 35%), or basal ganglia/thalamus (5% to 10%).
生殖细胞瘤倾向于发生在中线、松果体隐窝（50% 至 65%）、鞍上区（35% 至 35%）或基底节区/丘脑（5% 至 10%）。
They can exhibit cerebrospinal fluid (CSF) seeding and can occur in both the pineal region and the suprasellar region in 10% of cases.
病灶可以表现为脑脊液播散，并且10% 的病例可以发生在松果体区和鞍上区。
On CT, germinomas typically exhibit increased attenuation compared with gray matter given that they are hypercellular.
在 CT 上，由于细胞过多，与灰质相比，生殖细胞瘤通常表现出更高的密度。
On MRI, they are T2/FLAIR-hyperintense with mild mass effect on adjacent structures, which can result in hydrocephalus.
在MRI上，病灶表现为T2/FLAIR 高信号，对相邻结构有轻度占位效应，可导致脑积水。
They exhibit homogeneous enhancement and restricted diffusion.
病灶表现为均匀强化和扩散受限。
Classically, pineal cell tumors (pineoblastomas and pineocytomas) tend to disperse or “explode” pineal calcifications whereas pineal germinomas “engulf “pineal calcifications.'
传统上，松果体细胞肿瘤（松果体母细胞瘤和松果体细胞瘤）倾向于分散或“爆炸式”松果体钙化，而松果体生殖细胞瘤“吞没”松果体钙化。
In addition, germinomas have been shown to have higher ADC values than pineal cell tumors.
此外，生殖细胞瘤已被证明具有比松果体细胞肿瘤更高的 ADC 值。
Imaging of the whole spine is recommended given CSF spread.
鉴于容易脑脊液播散，建议对整个脊髓进行成像检查。
Treatment and prognosis 治疗和预后
Germinomas are highly sensitive to radiation therapy, and survival rates are between 80% and 90% after therapy.
生殖细胞瘤对放疗高度敏感，治疗后存活率在 80% 至 90% 之间。
Radiation is typically targeted to the entire ventricular system and sometimes to the spine, as well as sometimes with neoadjuvant chemotherapy.
放治通常针对整个脑室系统，有时需针对脊髓，也进行新辅助化疗。