A Case Report of 4-Years Old Patient With Nuclear Protein in Testis Midline Carcinoma of Larynx

Q4 Medicine
Min Seok Kim, Seung Hoon Woo
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Abstract

Nuclear protein in testis midline carcinoma (NMC) is an extremely aggressive subtype of squamous cell carcinoma characterized by chromosomal rearrangements of the nuclear protein in testis (NUT) gene. NMC predominantly arises in the anatomical midline locations of the body, with a high occurrence in the thoracic, head and neck regions. However, NMC remains a rarely reported disease, making its inclusion in the initial differential diagnosis challenging. This case involves a 4-year-old boy who presented with a neck mass initially diagnosed as a poorly differentiated carcinoma originating from the larynx with the cervical Lymph node metastasis. However, further tests confirmed the diagnosis of NUT midline carcinoma. This case highlights the importance of conducting NUT immunohistochemistry in cases of squamous cell carcinoma and undifferentiated carcinoma occurring in the head and neck, as it can provide meaningful insights for diagnosis and treatment decisions.
睾丸中线喉癌核蛋白 4 岁患者的病例报告
睾丸中线核蛋白癌(NMC)是鳞状细胞癌的一种极具侵袭性的亚型,其特点是睾丸中线核蛋白(NUT)基因的染色体重排。NMC 主要发生在人体的解剖中线位置,胸腔、头颈部发病率较高。然而,NMC 仍是一种鲜有报道的疾病,因此将其纳入初步鉴别诊断具有挑战性。本病例涉及一名 4 岁男孩,他的颈部肿块最初被诊断为源自喉部的分化不良癌,并伴有颈淋巴结转移。然而,进一步检查确诊为 NUT 中线癌。本病例强调了对发生在头颈部的鳞状细胞癌和未分化癌病例进行 NUT 免疫组化的重要性,因为它可以为诊断和治疗决策提供有意义的见解。
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