Vasiljevic A, Szathmari A, Champier J, Fèvre-Montange M, Jouvet A
Centre de pathologie et neuropathologie EST, groupement hospitalier EST, hospices civils de Lyon, 59, boulevard Pinel, 69677 Bron cedex, France; Centre de recherche en neurosciences de Lyon, Inserm U1028, CNRS UMR5292, équipe neuro-oncologie et neuro-inflammation, Lyon, France.
Service de neurochirurgie pédiatrique E, hôpital Pierre-Wertheimer, groupement hospitalier EST, hospices civils de Lyon, 59, boulevard Pinel, 69677 Bron cedex, France.
Neurochirurgie. 2015 Apr-Jun;61(2-3):130-7. doi: 10.1016/j.neuchi.2013.06.006. Epub 2014 Apr 13.
Germ cell tumors (GCTs) classically occur in gonads. However, they are the most frequent neoplasms in the pineal region. The pineal location of GCTs may be caused by the neoplastic transformation of a primordial germ cell that has mismigrated. The World Health Organization (WHO) recognizes 5 histological types of intracranial GCTs: germinoma and non-germinomatous tumors including embryonal carcinoma, yolk sac tumor, choriocarcinoma and mature or immature teratoma. Germinomas and teratomas are frequently encountered as pure tumors whereas the other types are mostly part of mixed GCTs. In this situation, the neuropathologist has to be able to identify each component of a GCT. When diagnosis is difficult, use of recent immunohistochemical markers such as OCT(octamer-binding transcription factor)3/4, Glypican 3, SALL(sal-like protein)4 may be required. OCT3/4 is helpful in the diagnosis of germinomas, Glypican 3 in the diagnosis of yolk sac tumors and SALL4 in the diagnosis of the germ cell nature of an intracranial tumor. When the germ cell nature of a pineal tumor is doubtful, the finding of an isochromosome 12p suggests the diagnosis of GCT. The final pathological report should always be confronted with the clinical data, especially the serum or cerebrospinal fluid levels of β-human chorionic gonadotropin (HCG) and alpha-fetoprotein.
生殖细胞肿瘤（GCTs）通常发生于性腺。然而，它们却是松果体区最常见的肿瘤。GCTs位于松果体区可能是由于原始生殖细胞迁移错误发生肿瘤转化所致。世界卫生组织（WHO）认可5种颅内GCTs的组织学类型：生殖细胞瘤以及非生殖细胞瘤性肿瘤，包括胚胎癌、卵黄囊瘤、绒毛膜癌和成熟或未成熟畸胎瘤。生殖细胞瘤和畸胎瘤常为单纯性肿瘤，而其他类型大多是混合性GCTs的一部分。在这种情况下，神经病理学家必须能够识别GCT的每个组成部分。当诊断困难时，可能需要使用近期的免疫组化标志物，如OCT（八聚体结合转录因子）3/4、磷脂酰肌醇蛋白聚糖3、SALL（类SALL蛋白）4。OCT3/4有助于生殖细胞瘤的诊断，磷脂酰肌醇蛋白聚糖3有助于卵黄囊瘤的诊断，SALL4有助于诊断颅内肿瘤的生殖细胞性质。当松果体区肿瘤的生殖细胞性质存疑时，发现12号染色体短臂等臂染色体提示GCT的诊断。最终的病理报告应始终与临床资料相对照，尤其是血清或脑脊液中的β-人绒毛膜促性腺激素（HCG）和甲胎蛋白水平。
