Lemelle Lauriane, Pierron Gaëlle, Fréneaux Paul, Huybrechts Sophie, Spiegel Alexandra, Plantaz Dominique, Julieron Morbize, Dumoucel Sophie, Italiano Antoine, Millot Fréderic, Le Tourneau Christophe, Leverger Guy, Chastagner Pascal, Carton Matthieu, Orbach Daniel
Department of Pediatric, Adolescent, Young Adults, Institut Curie, Paris, France.
Unité de Génétique somatique, Institut Curie, Paris, France.
Pediatr Blood Cancer. 2017 Dec;64(12). doi: 10.1002/pbc.26693. Epub 2017 Jun 23.
Nuclear protein of the testis (NUT) carcinoma (formerly NUT midline carcinoma) is an aggressive tumor defined by the presence of NUT rearrangement with a poor prognosis. This rare cancer is underdiagnosed and poorly treated.
The primary objective of this study was to describe the clinical, radiologic, and biological features of NUT carcinoma. The secondary objective was to describe the various treatments and assess their efficacy.
This retrospective multicenter study was based on review of the medical records of children and adults with NUT carcinoma with specific rearrangement or positive anti-NUT nuclear staining (>50%).
This series of 12 patients had a median age of 18.1 years (ranges: 12.3-49.7 years). The primary tumor was located in the chest in eight patients, the head and neck in three patients, and one patient had a multifocal tumor. Nine patients presented regional lymph node involvement and eight distant metastases. One-half of patients were initially misdiagnosed. Specific NUT antibody was positive in all cases tested. A transient response to chemotherapy was observed in four of 11 patients. Only two patients were treated by surgery and five received radiotherapy with curative intent. At the end of follow-up, only one patient was still in remission more than 12 years after the diagnosis. Median overall survival was 4.7 months (95% confidence interval [CI]: 2.1-17.7).
NUT carcinoma is an aggressive disease refractory to conventional therapy. Early diagnosis by NUT-specific antibody immunostaining in cases of undifferentiated or poorly differentiated carcinoma to identify the specific rearrangement of NUT gene is useful to propose the optimal therapeutic strategy.
睾丸核蛋白（NUT）癌（原NUT中线癌）是一种侵袭性肿瘤，其特征为存在NUT重排，预后较差。这种罕见癌症诊断不足且治疗效果不佳。
本研究的主要目的是描述NUT癌的临床、放射学和生物学特征。次要目的是描述各种治疗方法并评估其疗效。
这项回顾性多中心研究基于对患有特定重排或抗NUT核染色阳性（>50%）的NUT癌儿童和成人的病历进行审查。
这组12例患者的中位年龄为18.1岁（范围：12.3 - 49.7岁）。原发肿瘤位于胸部者8例，头颈部者3例，1例为多灶性肿瘤。9例患者出现区域淋巴结受累，8例有远处转移。一半患者最初被误诊。所有检测病例中特异性NUT抗体均为阳性。11例患者中有4例对化疗有短暂反应。仅2例患者接受了手术治疗，5例接受了根治性放疗。随访结束时，仅1例患者在诊断后12年以上仍处于缓解状态。中位总生存期为4.7个月（95%置信区间[CI]：2.1 - 17.7）。
NUT癌是一种对传统治疗难治的侵袭性疾病。在未分化或低分化癌病例中通过NUT特异性抗体免疫染色进行早期诊断以识别NUT基因的特异性重排，有助于提出最佳治疗策略。
