Moreno Vanessa, Saluja Karan, Pina-Oviedo Sergio
Department of Pathology and Laboratory Medicine, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX, United States.
Department of Pathology, Duke University Medical Center, Durham, NC, United States.
Front Oncol. 2022 Mar 16;12:860830. doi: 10.3389/fonc.2022.860830. eCollection 2022.
Nuclear protein in testis (NUT) carcinoma is a rare, highly aggressive, poorly differentiated carcinoma occurring mostly in adolescents and young adults. This tumor usually arises from the midline structures of the thorax, head, and neck, and exhibits variable degrees of squamous differentiation. NUT carcinoma is defined by the presence of a (15q14) rearrangement with multiple other genes. In about 70-80% of the cases, is involved in a balanced translocation with the gene (19p13.12), leading to a fusion oncogene. Other variant rearrangements include fusion (15-20%) and fusion (6%), among others. The diagnosis of NUT carcinoma requires the detection of nuclear expression of the NUT protein by immunohistochemistry. Additional methods for diagnosis include the detection of a rearrangement by fluorescence hybridization or by reverse transcriptase PCR. NUT carcinoma is usually underrecognized due to its rarity and lack of characteristic histological features. Therefore, the goal of this review is to provide relevant recent information regarding the clinicopathologic features of NUT carcinoma, the role of the multiple gene rearrangements in carcinogenesis, and the impact of understanding these underlying molecular mechanisms that may result in the development of possible novel targeted therapies.
睾丸核蛋白（NUT）癌是一种罕见的、高度侵袭性的、低分化癌，主要发生于青少年和年轻成年人。该肿瘤通常起源于胸部、头部和颈部的中线结构，并表现出不同程度的鳞状分化。NUT癌由与多个其他基因的（15q14）重排所定义。在大约70%-80%的病例中，与基因（19p13.12）发生平衡易位，导致融合癌基因。其他变异重排包括融合（约15%-20%）和融合（约6%）等。NUT癌的诊断需要通过免疫组织化学检测NUT蛋白核表达。其他诊断方法包括通过荧光原位杂交或逆转录聚合酶链反应检测重排。由于其罕见性和缺乏特征性组织学特征，NUT癌通常未得到充分认识。因此，本综述的目的是提供有关NUT癌临床病理特征、多个基因重排在致癌过程中的作用以及理解这些潜在分子机制可能对开发新型靶向治疗产生的影响的近期相关信息。
