Department of Pathology, Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, USA.
Department of Pediatrics, Division of Hematology/Oncology, Vanderbilt University Medical Center, Nashville, USA.
Head Neck Pathol. 2021 Mar;15(1):236-243. doi: 10.1007/s12105-020-01141-3. Epub 2020 Feb 19.
NUT (midline) carcinoma is a rare, highly aggressive, poorly differentiated carcinoma that characteristically harbors a rearrangement of the NUTM1 gene. Most of these tumors occur in adolescents and young adults, arise from the midline structures of the thorax, head, and neck, and are associated with extremely poor outcomes. Rare cases originating from salivary glands have been reported with clinicopathologic features comparable to NUT carcinoma of other sites. Outcome studies regarding this subgroup are currently lacking. We report a case of NUT carcinoma arising in a submandibular gland of a 12-year-old boy. Diagnosis was confirmed by fluorescence in situ hybridization demonstrating fusion of the BRD4 (19p13.12) and NUTM1 (15q14) gene loci. A systematic review of all previously reported salivary gland NUT carcinomas (n = 15) showed exclusive occurrence of pediatric cases (n = 6) in males compared to adult patients (n = 9, male: female = 1:2; p < 0.05). The median survival was 24 and 4 months for pediatric and adult patients, respectively (95% confidence interval was 8-24 and 1-7 months, respectively; p < 0.01). The 1-year overall survival was 67% for pediatric and 11% for adult patients. Among all NUT carcinomas, pediatric salivary gland tumors may represent a distinct clinical subset associated with male predilection and comparatively prolonged survival.
NUT(中线)癌是一种罕见的、高度侵袭性的低分化癌,其特征是存在 NUTM1 基因的重排。这些肿瘤大多数发生在青少年和年轻人中,起源于胸部、头部和颈部的中线结构,预后极差。也有罕见的源自唾液腺的病例报道,其临床病理特征与其他部位的 NUT 癌相似。目前缺乏针对这一分组的预后研究。我们报告了一例发生在下颌下腺的 NUT 癌,该患者为 12 岁男孩。荧光原位杂交证实 BRD4(19p13.12)和 NUTM1(15q14)基因位点融合,从而确诊。对所有先前报道的唾液腺 NUT 癌(n=15)进行系统回顾,结果显示与成人患者(n=9,男:女=1:2;p<0.05)相比,仅儿童病例(n=6)为男性。儿童和成人患者的中位生存期分别为 24 和 4 个月(95%置信区间分别为 8-24 和 1-7 个月;p<0.01)。1 年总生存率分别为 67%和 11%。在所有 NUT 癌中,儿童唾液腺肿瘤可能代表一个独特的临床亚组,与男性偏好和相对较长的生存时间相关。