Department of Oncology, Lanzhou University Second Hospital, Lanzhou University, Lanzhou City, China.
Department of Pathology, Lanzhou University Second Hospital, Lanzhou University, Lanzhou City, China.
Cell Mol Biol (Noisy-le-grand). 2022 Feb 4;67(5):104-108. doi: 10.14715/cmb/2021.67.5.14.
Germ cell tumor is the most common malignant tumor of the gonads, sometimes they are found in locations other than the gonads, called Extra-gonadal Germ cell tumours (EGCTs). Primary mediastinal germ cell tumors (PMGCTs) are a kind of rare neoplasm in the anterior mediastinum, including seminoma and non-seminomatous, or appear as a mixture. Primary mediastinal seminoma mixed with sarcoma is an extremely rare clinicopathologic entity. Previous studies have revealed that primary pure mediastinal seminomas are commonly sensitive to chemoradiotherapy and possibly to palliative excision. The treatment options for mixed germ cell tumor composed of seminoma and sarcoma remain unknown. Only one case of primary mediastinal seminoma with rhabdosarcoma has been reported in the literature up to date and the patient benefited from chemotherapy as the neoadjuvant therapy. However, cases of primary mediastinal seminoma with leiomyosarcoma have not been documented. Herein, we report a case of an 18-year-old patient, who presented with dyspnea, orthopnea, and chest pain, the CECT scan of the chest showed a large mass in the anterior mediastinum, which turned out to be seminoma mixed with leiomyosarcoma after partial excision. We investigate the treatment strategy and potential molecular mechanism of this disease. Finally, our study demonstrated that the patient benefited from the treatment of chemotherapy alone, or combined with target therapy after the operation. Meanwhile, the BRAF p.G466V, TP53 mutations, MTOR p.T1977I and exons 2-5 deletion of FLCN may be potential molecular mechanisms and oncogenic drivers of this disease.
生殖细胞肿瘤是性腺最常见的恶性肿瘤，有时也会在性腺以外的部位发现，称为性腺外生殖细胞肿瘤（EGCTs）。原发性纵隔生殖细胞肿瘤（PMGCTs）是前纵隔的一种罕见肿瘤，包括精原细胞瘤和非精原细胞瘤，或表现为混合存在。原发性纵隔精原细胞瘤合并肉瘤是一种极为罕见的临床病理实体。既往研究表明，原发性纯纵隔精原细胞瘤对放化疗敏感，可能对姑息性切除有效。由精原细胞瘤和肉瘤组成的混合生殖细胞瘤的治疗选择尚不清楚。迄今为止，文献中仅报道了 1 例原发性纵隔精原细胞瘤合并横纹肌肉瘤的病例，该患者接受新辅助化疗后获益。然而，尚未有原发性纵隔精原细胞瘤合并平滑肌肉瘤的病例报道。本文报告了 1 例 18 岁男性患者，因呼吸困难、端坐呼吸和胸痛就诊，胸部 CECT 扫描显示前纵隔有一巨大肿块，部分切除后证实为精原细胞瘤合并平滑肌肉瘤。我们探讨了该病的治疗策略和潜在的分子机制。最后，我们的研究表明，患者单独接受化疗或手术后联合靶向治疗均获益。同时，BRAF p.G466V、TP53 突变、MTOR p.T1977I 和 FLCN 外显子 2-5 缺失可能是该病的潜在分子机制和致癌驱动因素。
