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一例罕见的口腔上颌部NUT(睾丸核蛋白)癌伴弥漫性骨转移及恶性肿瘤高钙血症

A Rare Case of Oral-Maxillary NUT (Nuclear Protein in Testis) Carcinoma With Diffuse Osseous Metastasis and Hypercalcemia of Malignancy.

作者信息

Abdul Jabbar Layla, Soca Lucia, Clement Cecilia, Qiu Suimin, Dostal Carlos

机构信息

Internal Medicine, University of Texas Medical Branch at Galveston, Galveston, USA.

Pathology, University of Texas Medical Branch at Galveston, Galveston, USA.

出版信息

Cureus. 2025 Apr 14;17(4):e82244. doi: 10.7759/cureus.82244. eCollection 2025 Apr.

Abstract

Nuclear protein in testis (NUT) carcinoma is a rare and aggressive cancer arising from genetic rearrangements of the gene. This leads to tumorigenesis, which commonly affects midline structures, including the head, neck, and thorax. It may originate from non-cutaneous epithelial tissues and resemble poorly differentiated squamous cell carcinomas. NUT carcinoma (NC) can typically be consistently identified through immunostaining for the NUT protein. Unfortunately, most cases are detected at an advanced stage, leading to unfavorable outcomes. The rarity of NC, combined with its aggressive behavior, late presentation, and limited understanding of its pathogenesis, presents considerable diagnostic and therapeutic challenges. We present and discuss our case of a 48-year-old male with NC of oral-maxillary origin with diffuse osteolytic metastasis. Uniquely, this is the first report of adult NC with severe hypercalcemia of malignancy (20.1 mg/dL) resistant to an aggressive multimodal treatment approach. We underscore the urgent need for the timely diagnosis of NC and the development of effective interventions for improving the outcome of this devastating malignancy.

摘要

睾丸核蛋白(NUT)癌是一种罕见的侵袭性癌症,由该基因的重排引起。这导致肿瘤发生,通常影响中线结构,包括头部、颈部和胸部。它可能起源于非皮肤上皮组织,类似于低分化鳞状细胞癌。NUT癌(NC)通常可以通过对NUT蛋白进行免疫染色来一致识别。不幸的是,大多数病例在晚期才被发现,导致预后不良。NC的罕见性,加上其侵袭性、出现较晚以及对其发病机制的了解有限,带来了相当大的诊断和治疗挑战。我们展示并讨论了一例48岁男性口腔上颌来源的NC伴弥漫性溶骨性转移的病例。独特的是,这是第一例对积极的多模式治疗方法耐药的成年NC伴严重恶性高钙血症(20.1mg/dL)的报告。我们强调迫切需要及时诊断NC,并开发有效的干预措施以改善这种毁灭性恶性肿瘤的预后。

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