伴有CTNNB1基因突变的先天性畸胎癌肉瘤表现为眼部肿块。

IF 1.3
Saeeda Almarzooqi, Miguel Reyes-Múgica, Bassam R Ali, Aya Habbal, Mohammad J Asha, Eman T AlShamsi
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引用次数: 3

摘要

畸胎瘤是一种极为罕见的鼻腔和鼻窦恶性肿瘤。它既有肉瘤的成分,也有癌的成分。报告的病例不到100例。它出现在成人中,只有两例报告的婴儿病例。在这里,我们提出了一个3周大的女性与产前发现的眼部肿块。MRI显示右眼外生性肿块(10 × 7.0 × 7.0 cm)伴颅内扩张。肿瘤由恶性腺体、未分化的母细胞样细胞和未成熟的神经上皮组成。在对Wilms肿瘤进行初步诊断和治疗后,肿块没有反应。第二意见诊断为鼻鼻窦畸胎瘤肉瘤。患者接受了手术切除和7个周期的中枢神经系统ICE化疗。第二次减容手术显示肿瘤存活率非常低,治疗后变化明显。在每周长春新碱维持治疗下,患者存活43个月。分子检测显示体细胞CTNNB1基因突变。总之,这是一种罕见的侵袭性肿瘤,在适当使用多模式治疗的情况下,其无病生存率超过了文献报道。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Congenital Teratocarcinosarcoma With CTNNB1 Gene Mutation Presenting as an Ocular Mass.

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.

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