摘要：

目的 总结儿童松果体区生殖细胞肿瘤的临床治疗方法及效果。方法与结果 选择2012年3月至2019年12月的原发性松果体区生殖细胞肿瘤患儿共28例，并对其临床资料进行回顾分析。临床表现有高颅压症状、上视不能、性早熟等。其中7例经诊断性放化疗间接诊断为单纯生殖细胞瘤，其余病例均经病理学检查确诊，包括15例混合性生殖细胞肿瘤、3例成熟畸胎瘤、2例未成熟畸胎瘤、1例绒毛膜癌。采用诊断性放化疗证实有效后继续完成放射治疗或药物化疗者7例。术前尝试药物化疗3例，肿瘤进展后改为开颅手术，直接开颅手术切除18例，其中手术入路为经前纵裂-胼胝体-穹隆间入路15例，经幕下小脑上入路6例。肿瘤全切除16例，次全切除3例，部分切除2例。所有患儿术后血清肿瘤标志物均显著下降，平均为69.55%。平均住院时间19.35 d。术后出院时1例因昏迷放弃治疗，其余27例患儿头痛、恶心呕吐等高颅压症状明显缓解，有10例继发脑积水，再次出现高颅压症状，均经脑室-腹腔分流术后症状消失。平均随访2.53年，其中7例生殖细胞瘤患儿未见复发。15例混合性生殖细胞肿瘤患儿完全缓解8/15；术后放弃治疗1例，失访1例；复发率5/15，其中原位复发2例、2例脑室播散、1例脊髓播散；死亡1例（1/15），术后23个月因肿瘤进展死亡。5例畸胎瘤患儿均未见复发。1例绒毛膜癌患儿于术后4个月因肿瘤进展死亡。结论 儿童松果体区生殖细胞肿瘤病理类型多样，以混合性生殖细胞肿瘤多见，血清学肿瘤标记物在诊疗中具有重要意义。手术联合规范放化疗是重要治疗手段，采用多学科诊疗模式，进行个体化精准治疗，可显著延长患者生存期。

关键词: 肿瘤, 生殖细胞和胚胎性, 松果腺, 儿童, 神经外科手术, 化放疗

Abstract:

Objective To summarize the treatment methods and effects of pediatric germ cell tumors in pineal region. Methods and Results Clinical data of 28 children with primary intracranial pineal region germ cell tumors from March 2012 to December 2019 were analyzed retrospectively. The clinical manifestations include high intracranial pressure symptoms, parinaud symptoms and precocious puberty. Seven patients were diagnosed as germinoma indirectly by diagnostic radiotherapy/chemotherapy, the rest patients were confirmed by pathological examination:15 mixed germ cell tumors, 3 mature teratomas, 2 malignant teratomas and 1 choriocarcinoma. Managements:7 cases were continued to complete chemotherapy after being confirmed effective by diagnostic chemotherapy or radiotherapy. Three cases were underwent chemotherapy before operation, ineffectively, and were underwent operation after the tumor progressed, and 18 cases were directly resected. The operative approach was via longitudinal fissure-corpus callosum-fornix in 15 cases and infratentorial supracerebellar approach in 6 cases. Total resection was performed in 16 cases, subtotal resection in 3 cases and partial resection in 2 cases. The serum tumor markers of all children decreased significantly after surgery, with an average of 69.55%. The average hospital stay was 19.35 d for all. At the time of discharge from hospital, one patient abandoned treatment due to coma, the remaining 27 patients with headache, nausea and vomiting, and other symptoms of high intracranial pressure significantly relieved. There were 10 cases of secondary hydrocephalus, and symptoms of high intracranial pressure recurred. The symptoms disappeared after the shunt. The cases in this group were followed up for an average of 2.53 years, and 7 cases of germinoma had no recurrence. Fifteen cases with mixed germ cell tumors had a complete remission of 8/15; one patient gave up treatment after surgery; 5/15 of relapses, of which 2 recurred in situ, 2 recurred in ventricular dissemination, one recurred in spinal cord disseminated; and one case (1/15) died of tumor progression 23 months after surgery. There were no recurrences in 5 cases with teratoma. One case with choriocarcinoma died of tumor progression 4 months after surgery. Conclusions There are various types of germ cell tumors in the pineal gland in children. Mixed germ cell tumors are more common. Serological tumor markers are of great significance in diagnosis and treatment. Surgery combined with standardized chemoradiotherapy is an important treatment method. The use of multi-disciplinary diagnosis and treatment mode and individualized precise treatment can significantly extend the survival of patients.

Key words: Neoplasms, germ cell and embryonal, Pineal gland, Child, Neurosurgical procedures, Chemoradiotherapy