Division of Plastic and Maxillofacial Surgery, Children's Hospital Los Angeles, Los Angeles, CA, USA; Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Keck School of Medicine, University of Southern California, Los Angeles, CA, USA; Division of Hematology-Oncology, Cancer and Blood Disease Institute, Children's Hospital Los Angeles, Los Angeles, CA, USA.
Int J Oral Maxillofac Surg. 2023 Mar;52(3):304-312. doi: 10.1016/j.ijom.2022.07.002. Epub 2022 Jul 19.
Nuclear protein of the testis (NUT) carcinoma is a rare, undifferentiated carcinoma that is characterized by NUTM1 gene rearrangements. Patients with NUT carcinoma have an overall survival of approximately 5% at 5 years despite a multimodal treatment approach. This report illustrates the management of mandibular NUT carcinoma in a pediatric patient, complemented by a systematic review of head and neck NUT carcinoma. A 5-year-old female presented with an enlarging jaw mass that was diagnosed as BRD4-NUTM1 carcinoma and was treated with hemimandibulectomy and chemoradiation. She remains disease-free 21 months after completion of therapy. A total of 63 patient cases reported in 34 articles were identified in the review. Only 26.9% (14/52) of tumors were correctly diagnosed initially as NUT carcinoma, whereas 73.1% (38/52) were incorrectly diagnosed as another malignancy; the initial diagnosis was not reported for 11 patients. The mandibular tumor subtype was among the rarest reported (n = 1; 1.6%). Combination therapy, including surgery and chemoradiation, was the most common treatment (55.2%). The patient case presented here is a novel case of pediatric mandibular NUT carcinoma. Due to the poor overall survival of patients with NUT carcinoma, aggressive upfront resection with 2-cm margins followed by adjuvant chemoradiation is advocated.
睾丸核蛋白（NUT）癌是一种罕见的未分化癌，其特征是存在 NUTM1 基因重排。尽管采用了多模式治疗方法，NUT 癌患者的 5 年总生存率仍约为 5%。本报告介绍了一例儿童下颌骨 NUT 癌的治疗方法，并对头颈部 NUT 癌进行了系统回顾。一名 5 岁女性因颌骨肿块增大就诊，诊断为 BRD4-NUTM1 癌，并接受了半下颌骨切除术和放化疗。治疗完成后 21 个月，她仍无疾病。在综述中，共确定了 34 篇文章中报告的 63 例患者病例。仅有 26.9%（14/52）的肿瘤最初被正确诊断为 NUT 癌，而 73.1%（38/52）的肿瘤被错误诊断为另一种恶性肿瘤；11 例患者的初始诊断未报告。下颌骨肿瘤亚型是报道中最罕见的一种（n=1；1.6%）。包括手术和放化疗在内的联合治疗是最常见的治疗方法（55.2%）。本文报告的病例是一例儿童下颌骨 NUT 癌的新发病例。由于 NUT 癌患者的总体生存率较差，因此提倡积极的初始切除（2cm 切缘），并辅助放化疗。
