Ma Xiao, Gan Jingwen, Cao Dongyan, Peng Peng
Department of Obstetrics and Gynecology, National Clinical Research Center for Obstetric & Gynecologic Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Peking Union Medical College Hospital (Dongdan Campus), No.1 Shuaifuyuan Wangfujing Dongcheng District, Beijing, 100730, China.
Arch Gynecol Obstet. 2025 Jun;311(6):1637-1648. doi: 10.1007/s00404-024-07889-1. Epub 2025 Jan 8.
To provide a comprehensive understanding and propose a strategy for the management of extragonadal malignant germ cell tumors (EMGCTs) arising from extracranial and nonvaginal sites.
We retrospectively reviewed the cases of 12 patients with EMGCTs arising from extracranial and nonvaginal sites treated in our center over the past 38 years. Data on clinicopathological characteristics, treatment modalities, and follow-up information were analyzed.
Among 209 patients diagnosed with EMGCTs, 12 women (5.7%) with EMGCTs of extracranial and nonvaginal sites were identified. These patients had tumors in the sacrococcygeal region (n = 4), abdominal cavity (n = 3), groin region (n = 2), uterus (n = 2), and mediastinum (n = 1). The median age at diagnosis was 23 years. Symptoms included abnormal uterine bleeding (n = 3), abdominal discomfort (n = 3), compression symptoms (n = 3), palpable mass (n = 2), and asymptomatic (n = 1). Yolk sac tumors (YSTs) were the most common histologic type. The median level of serum alpha-fetoprotein (AFP), a sensitive tumor marker, was 8216 ng/ml (2.7-74,157 ng/ml). One patient started bleomycin/etoposide/cisplatin without a pathologic diagnosis based on clinical diagnosis (high AFP levels and imaging findings), and 11 patients started chemotherapy following tumor biopsy or surgical resection. During the follow-up, one patient suffered a recurrence, two patients were alive with disease, and nine patients were disease-free.
Extracranial and nonvaginal EMGCTs are a heterogeneous group of tumors due to their varied onset ages, location, and clinical presentation. An all-around clinical evaluation is crucial for selecting appropriate treatment. Most patients achieve a good prognosis after surgical resection and chemotherapy. Patients with these rare diseases may benefit from individualized treatment and timely referral to experienced medical centers.
全面了解颅外非阴道部位发生的性腺外恶性生殖细胞肿瘤（EMGCTs）并提出管理策略。
我们回顾性分析了过去38年在本中心治疗的12例颅外非阴道部位EMGCTs患者的病例。分析临床病理特征、治疗方式及随访信息。
在209例诊断为EMGCTs的患者中，识别出12例（5.7%）颅外非阴道部位EMGCTs的女性患者。这些患者的肿瘤位于骶尾部（n = 4）、腹腔（n = 3）、腹股沟区（n = 2）、子宫（n = 2）和纵隔（n = 1）。诊断时的中位年龄为23岁。症状包括异常子宫出血（n = 3）、腹部不适（n = 3）、压迫症状（n = 3）、可触及肿块（n = 2）和无症状（n = 1）。卵黄囊瘤（YSTs）是最常见的组织学类型。血清甲胎蛋白（AFP）这一敏感肿瘤标志物的中位水平为8216 ng/ml（2.7 - 74,157 ng/ml）。1例患者基于临床诊断（高AFP水平和影像学表现）在未获得病理诊断的情况下开始使用博来霉素/依托泊苷/顺铂治疗，11例患者在肿瘤活检或手术切除后开始化疗。随访期间，1例患者复发，2例患者带瘤生存，9例患者无疾病生存。
颅外非阴道EMGCTs因其发病年龄、位置和临床表现各异，是一组异质性肿瘤。全面的临床评估对于选择合适的治疗至关重要。大多数患者在手术切除和化疗后预后良好。患有这些罕见疾病的患者可能受益于个体化治疗并及时转诊至有经验的医疗中心。
