鼻窦畸胎瘤:13岁男性1例报告。

IF 1.3 4区 医学 Q3 PATHOLOGY
Yamin Ma, Csaba Galambos, Timothy Garrington, Angus Toland, Samuel Guzman, Von Samedi, Lester D R Thompson
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引用次数: 0

摘要

畸胎瘤是一种罕见的鼻窦恶性肿瘤,其未成熟和恶性的内胚层、中胚层和神经上皮细胞类似于未成熟畸胎瘤,通常伴有SMARCA4缺失或激活CTNNB1突变。癌成分可能是鳞状或腺癌,间质成分可能由梭形细胞、软骨、骨、平滑肌或骨骼肌组成。由于这种恶性肿瘤的不寻常性质,经常有诊断困难,导致管理问题。在这里,我们报告了一个13岁男孩鼻腔中出现的畸胎癌肉瘤,通过下一代测序发现CTNNB1激活突变和拷贝数变异,并伴有异常核型。这种肿瘤必须包括在不成熟因素的肿瘤鉴别中,更可能在儿科患者中看到。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Sinonasal Teratocarcinosarcoma: A Case Report in a 13-Year-Old Male.

Teratocarcinosarcoma is rare malignant sinonasal neoplasm with immature and malignant endodermal, mesodermal, and neuroepithelial elements resembling immature teratoma, commonly with SMARCA4 loss or activating CTNNB1 mutation. The carcinoma component may be either squamous or adenocarcinoma and the mesenchymal component may be composed of spindle cells, cartilage, bone, smooth muscle, or skeletal muscle. Due to the uncommon nature of this malignancy, there are frequently diagnostic difficulties that result in management problems. Herein we report a teratocarcinosarcoma arising in the nasal cavity of a 13-year-old boy with CTNNB1 activating mutation and copy number variations by next-generation sequencing along with an abnormal karyotype. This tumor must be included in the differential of neoplasms with immature elements, more likely seen in pediatric patients.

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来源期刊
CiteScore
3.70
自引率
5.30%
发文量
59
审稿时长
6-12 weeks
期刊介绍: The Journal covers the spectrum of disorders of early development (including embryology, placentology, and teratology), gestational and perinatal diseases, and all diseases of childhood. Studies may be in any field of experimental, anatomic, or clinical pathology, including molecular pathology. Case reports are published only if they provide new insights into disease mechanisms or new information.
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