The immunodetection of NUT protein is a reliable tool to identify NUT carcinoma, a rare and still underdiagnosed tumor entity. The technique was implemented in 2017 in our department, a tertiary reference center with a large recruitment in all tumor types, including head and neck and thoracic tumors. We evaluated its use over a 6-year period (2017-2022) to (a) describe the indications for the technique, (b) determine the number of NUT carcinomas detected and confirmed by Fluorescence in situ hybridization, and (c) describe briefly the characteristics of these tumors. Over the study period, 382 NUT immunodetections were performed; the annual number of requests varied from 45 to 83. All 21 pathologists of the department made at least one request (range: 1 to 94; annual mean: 18.2). 54.7% of immunodetections were performed for internal cases, 37% for cases submitted for consultation, and 8.3% for cases submitted for confirmation of a suspected diagnosis. The main indications were poorly differentiated tumors of the head and neck region (39%) and the thorax (19.6%), and difficult-to-classify soft tissue tumors (11.8%). Twelve cases of NUT carcinoma were detected by immunohistochemistry and confirmed by Fluorescence in situ hybridization. Seven were from the head and neck region (4.7% of the tumors tested), 4 from lung or mediastinum (5.3%), 1 from an unknown primary at the time of diagnosis. In conclusion, the implementation of NUT immunodetection in the daily workflow of a pathology department improves the detection of NUT carcinoma. This becomes essential with the emergence of potential targeted therapies.

中文翻译：

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NUT 蛋白的免疫检测：在三级参考中心的实施、适应症和结果。

NUT 蛋白的免疫检测是识别 NUT 癌的可靠工具，NUT 癌是一种罕见且仍未得到充分诊断的肿瘤实体。该技术于 2017 年在我们科室实施，这是一个三级参考中心，在所有肿瘤类型（包括头颈肿瘤和胸部肿瘤）中进行了大量招募。我们评估了其在 6 年期间（2017-2022 年）的使用情况，以 (a) 描述该技术的适应症，(b) 确定通过荧光原位杂交检测和确认的 NUT 癌的数量，以及 (c) 简要描述这些肿瘤的特征。在研究期间，进行了 382 次 NUT 免疫检测；每年的请求数量从 45 到 83 不等。该部门的所有 21 名病理学家都至少提出了一项请求（范围：1 到 94；年平均值：18.2）。内部病例进行免疫检测的比例为54.7%，送诊病例进行免疫检测的比例为37%，疑似诊断提交病例进行免疫检测的比例为8.3%。主要适应症为头颈部（39%）和胸部（19.6%）的低分化肿瘤，以及难以分类的软组织肿瘤（11.8%）。12例NUT癌经免疫组织化学检测并经荧光原位杂交证实。7 例来自头颈部（占测试肿瘤的 4.7%），4 例来自肺或纵隔（5.3%），1 例来自诊断时原发部位未知。总之，在病理科日常工作流程中实施NUT免疫检测可以提高NUT癌的检出率。随着潜在靶向治疗的出现，这一点变得至关重要。