Zain Sultan M, Mirchia Kanish, Galbraith Kristyn, Galgano Michael A, Lee Mijung, Richardson Timothy E, Mirchia Kavya
College of Medicine, State University of New York, Upstate Medical University, Syracuse, NY 13210, USA.
Department of Pathology, State University of New York, Upstate Medical University, Syracuse, NY 13210, USA.
Radiol Case Rep. 2022 Jul 13;17(9):3339-3344. doi: 10.1016/j.radcr.2022.06.059. eCollection 2022 Sep.
Primary intracranial germ cell tumors are rare, occurring more frequently in children and young adults in midline locations of the brain. Teratomas are an uncommon variant of germ cell neoplasm, although they account for a high proportion of fetal brain tumors. Here, we report a 27-year-old male who presented with a heterogeneously enhancing lesion in the left thalamus, without evidence of systemic disease. Histologic and immunohistochemical analysis were consistent with immature teratoma; next-generation sequencing was negative for targetable molecular alterations. The patient received chemotherapy and radiotherapy post-excision. Following the initial resection, ventriculoperitoneal shunt placement was performed due to left temporal horn entrapment. Nine months later, imaging revealed mediastinal and hilar adenopathy as well as pleural disease, with encasement and compression of pulmonary vasculature, and multiple, bilateral pulmonary nodules. Fine needle aspiration showed malignant cells with an immunohistochemical profile similar to the original tumor, consistent with metastases. Though germ cell tumors are known to spread via cerebrospinal fluid or blood, metastasis outside of the CNS from a primary intracranial germ cell tumor is a rare complication. Spread via ventriculoperitoneal shunt, which may have occurred in the present case, has also rarely been observed.
原发性颅内生殖细胞肿瘤较为罕见，在儿童和青年中更常发生于脑中线部位。畸胎瘤是生殖细胞肿瘤的一种不常见变体，尽管它们在胎儿脑肿瘤中占比很高。在此，我们报告一名27岁男性，其左侧丘脑出现异质性强化病变，无全身疾病证据。组织学和免疫组化分析符合未成熟畸胎瘤；二代测序未发现可靶向的分子改变。患者在切除术后接受了化疗和放疗。初次切除后，由于左侧颞角受压，进行了脑室腹腔分流术。9个月后，影像学检查显示纵隔和肺门淋巴结肿大以及胸膜病变，伴有肺血管包绕和受压，以及双侧多发肺结节。细针穿刺显示恶性细胞，其免疫组化特征与原发肿瘤相似，符合转移表现。尽管已知生殖细胞肿瘤可通过脑脊液或血液扩散，但原发性颅内生殖细胞肿瘤发生中枢神经系统外转移是一种罕见的并发症。通过脑室腹腔分流传播（本病例可能发生了这种情况）也很少见。
