Pulmonology Department, Unidade Local de Saúde da Guarda, E.P.E., Portugal.
Radiology Department, Centro Hospitalar Universitário do Porto, E.P.E., Portugal.
Am J Med Sci. 2023 Jul;366(1):64-70. doi: 10.1016/j.amjms.2023.03.028. Epub 2023 Apr 24.
Nuclear protein in testis (NUT) carcinoma is an extremely rare and undifferentiated malignancy characterized by the rearrangement of NUT gene (NUTM1, Nuclear Protein in Testis). NUT carcinoma is a challenging disease which is difficult to diagnose and treat. Due to its rarity, lack of experience and need of specific molecular study it can be un/misdiagnosed. Therefore, NUT carcinoma should be included in differential diagnosis of poorly differentiated/undifferentiated and rapidly progressive malignancy in children and young adults, occurring in the head, neck or thorax. We report a case of NUT carcinoma presented with pleural effusion in adulthood.
睾丸核蛋白(NUT)癌是一种极其罕见且未分化的恶性肿瘤,其特征在于 NUT 基因(NUTM1,睾丸核蛋白)的重排。NUT 癌是一种具有挑战性的疾病,其诊断和治疗都很困难。由于其罕见性、缺乏经验以及需要特定的分子研究,可能会出现漏诊/误诊。因此,NUT 癌应纳入儿童和青年成人发生于头颈部或胸部的低分化/未分化和快速进展性恶性肿瘤的鉴别诊断中。我们报告了一例成年患者以胸腔积液为表现的 NUT 癌病例。