Department of Neurosurgery, Brain Research Institute, Niigata University, Niigata 951-8585, Japan.
Advanced Treatment of Neurological Diseases Branch, Brain Research Institute, Niigata University, Niigata 951-8585, Japan.
Curr Oncol. 2024 Mar 29;31(4):1831-1838. doi: 10.3390/curroncol31040138.
Molecular analysis of the growing teratoma syndrome has not been extensively studied. Here, we report a 14-year-old boy with a growing mass during treatment for a mixed germ cell tumor of the pineal region. Tumor markers were negative; thus, growing teratoma syndrome was suspected. A radical resection via the occipital transtentorial approach was performed, and histopathological examination revealed a teratoma with malignant features. Methylation classifier analysis confirmed the diagnosis of teratoma, and loss and 12p gain were identified by copy number variation analysis, potentially elucidating the cause of growth and malignant transformation of the teratoma. The patient remains in remission after intense chemoradiation treatment as a high-risk germ cell tumor.
生长性畸胎瘤综合征的分子分析尚未得到广泛研究。在此，我们报告了 1 例 14 岁男孩在松果体区混合生殖细胞瘤治疗过程中出现肿块增大。肿瘤标志物阴性，故怀疑为生长性畸胎瘤综合征。通过枕骨经天幕入路行根治性切除术，组织病理学检查显示为具有恶性特征的畸胎瘤。甲基化分类器分析证实了畸胎瘤的诊断，并且通过拷贝数变异分析鉴定出缺失和 12p 增益，这可能阐明了畸胎瘤生长和恶性转化的原因。该患者在高强度化疗和放疗治疗作为高危生殖细胞瘤后仍处于缓解状态。
