Abstract：
Teratocarcinosarcoma is an extremely rare malignancy of the nasal cavity and paranasal sinuses. It exhibits both sarcomatous and carcinomatous components. Less than 100 cases are reported. It presents in adults with only two reported cases in infancy. Here we present a case of 3-week-old female with antenatally detected ocular mass. MRI revealed an exophytic right ocular mass (10 × 7.0 × 7.0 cm) with intracranial extension. The tumor consisted of malignant glands and mesenchymal elements of undifferentiated blastema-like cells and immature neuroepithelium. After an initial diagnosis and treatment for a Wilms tumor protocol, the mass showed no response. A second opinion rendered a diagnosis of sinonasal teratocarcinosarcoma. The patient underwent surgical resection and seven cycles of CNS ICE chemotherapy. A second debulking surgery revealed a very scant viable tumor with post-treatment changes. The patient is alive at 43 months on weekly vincristine maintenance. Molecular testing revealed a somatic CTNNB1 gene mutation. In conclusion, this is a rare and aggressive tumor which showed disease free survival beyond that reported in the literature with the appropriate use of multimodality therapy.
摘要：
畸胎癌肉瘤是一种极其罕见的鼻腔和鼻旁窦恶性肿瘤。它表现出肉瘤和癌成分。报告不到100例。它出现在成人中，婴儿期只有两个报告病例。在这里，我们介绍了一例3周大的女性，在产前检测到眼部肿块。MRI提示右眼外生性肿块（10×7.0×7.0cm），颅内延伸。肿瘤由恶性腺体和未分化的母细胞样细胞和未成熟的神经上皮的间充质成分组成。在对Wilms肿瘤方案进行初步诊断和治疗后，群众没有反应。第二种意见诊断为鼻腔鼻窦畸胎癌肉瘤。患者接受了手术切除和七个周期的CNSICE化疗。第二次减积手术显示，治疗后变化的肿瘤很少。患者在每周长春新碱维持治疗43个月时还活着。分子检测显示体细胞CTNNB1基因突变。总之,这是一种罕见且侵袭性的肿瘤,其无病生存期超出了文献报道的合理使用多模式治疗的范围.
