Departments of Pathology.
Tumor Genetics, Gustave Roussy Cancer Campus, Villejuif.
Appl Immunohistochem Mol Morphol. 2024 Feb 1;32(2):64-70. doi: 10.1097/PAI.0000000000001172. Epub 2023 Nov 16.
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.
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被充分诊断的肿瘤实体。该技术于 2017 年在我们的部门实施,作为一个三级参考中心,我们对所有类型的肿瘤(包括头颈部和胸部肿瘤)都有大量的招募。我们评估了该技术在 6 年期间(2017-2022 年)的使用情况,以 (a) 描述该技术的适应证,(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 21 位病理学家都至少提出了一次请求(范围:1 到 94;年平均值:18.2)。54.7%的免疫检测是为内部病例进行的,37%是为咨询病例进行的,8.3%是为确认疑似诊断进行的。主要适应证是头颈部区域(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%)。通过免疫组织化学检测到 12 例 NUT 癌,并通过荧光原位杂交确认。其中 7 例来自头颈部区域(测试肿瘤的 4.7%),4 例来自肺或纵隔(5.3%),1 例来自诊断时未知的原发性肿瘤。总之,在病理科的日常工作流程中实施 NUT 免疫检测可提高 NUT 癌的检出率。随着潜在的靶向治疗的出现,这一点变得至关重要。