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鼻窦 NUT 癌:呼吁加强对这一重要临床诊断的关注。

Sinonasal NUT Carcinoma: A Call for Increased Attention to a Vital Clinical Diagnosis.

作者信息

Chatterjee Priti, Nangia Anita, Osama Md Ali, Sharma M C, Kolluru Kartik, Kumar Sunil

机构信息

Department of Pathology, Lady Hardinge Medical College, New Delhi, India.

Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.

出版信息

Indian J Surg Oncol. 2025 Apr;16(2):702-707. doi: 10.1007/s13193-024-01907-z. Epub 2024 Feb 27.

DOI:10.1007/s13193-024-01907-z
PMID:40337056
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12052645/
Abstract

Nuclear protein in testis (NUT) carcinoma is a highly aggressive and poorly differentiated carcinoma, defined by presence of NUT rearrangements in the (NUT midline carcinoma family member 1) gene. This tumor has a predilection for midline and paramidline structures of the upper aerodigestive tract and mediastinum and has a devastating clinical course, thus an early diagnosis is indispensable. However, due to its low incidence, this is often misdiagnosed by the clinicians and pathologists. Here, we report a case of NUT midline carcinoma of the nasal cavity in a 53-year-old man who presented with chief complaints of nasal discharge and obstruction, accompanied by blurring of vision and facial swelling. The present case report reviews the clinical characteristics, histopathological diagnosis of NUT carcinoma, highlighting the morphological and immunohistochemical findings and the pathological approach to sinonasal undifferentiated tumors encountered.

摘要

睾丸核蛋白(NUT)癌是一种侵袭性很强且分化程度低的癌,由BRD4-NUT(含溴结构域蛋白4-睾丸核蛋白)基因重排所定义。该肿瘤好发于上消化道和纵隔的中线及旁中线结构,临床病程凶险,因此早期诊断必不可少。然而,由于其发病率低,临床医生和病理学家常常误诊。在此,我们报告一例53岁男性鼻腔NUT中线癌病例,该患者主要症状为鼻分泌物增多和鼻塞,伴有视力模糊和面部肿胀。本病例报告回顾了NUT癌的临床特征、组织病理学诊断,重点介绍了形态学和免疫组化结果以及对鼻窦未分化肿瘤的病理诊断方法。

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本文引用的文献

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Sinonasal NUT carcinoma: A retrospective case series from a single institution.鼻窦 NUT 癌:来自单一机构的回顾性病例系列研究。
Front Surg. 2023 Mar 1;10:1098704. doi: 10.3389/fsurg.2023.1098704. eCollection 2023.
2
Supraglottic NUT Carcinoma: A Case Report and Literature Review.声门上区 NUT 癌:一例报告及文献复习
Case Rep Oncol. 2022 Nov 8;15(3):980-987. doi: 10.1159/000526815. eCollection 2022 Sep-Dec.
3
Case report: NUT carcinoma in an elderly woman with unique morphology and immunophenotype highlights a diagnostic pitfall.病例报告:一名老年女性的 NUT 癌,具有独特的形态学和免疫表型,凸显了诊断陷阱。
Transl Cancer Res. 2022 Jun;11(6):1850-1860. doi: 10.21037/tcr-22-364.
4
A case of metastatic NUT carcinoma with prolonged response on gemcitabine and nab-paclitaxel.一例对吉西他滨和纳米紫杉醇有长期反应的转移性NUT癌病例。
Clin Case Rep. 2021 Aug 16;9(8):e04616. doi: 10.1002/ccr3.4616. eCollection 2021 Aug.
5
Sinonasal NUT Carcinoma: Delayed Diagnosis Due to the COVID-19 Pandemic and a Review of the Literature.鼻腔鼻窦 NUT 癌:因 COVID-19 大流行导致的延误诊断及文献复习。
Head Neck Pathol. 2021 Dec;15(4):1409-1414. doi: 10.1007/s12105-021-01311-x. Epub 2021 Mar 8.
6
An Anatomical Site and Genetic-Based Prognostic Model for Patients With Nuclear Protein in Testis (NUT) Midline Carcinoma: Analysis of 124 Patients.睾丸核蛋白(NUT)中线癌患者的解剖部位和基于基因的预后模型:124例患者分析
JNCI Cancer Spectr. 2019 Nov 6;4(2):pkz094. doi: 10.1093/jncics/pkz094. eCollection 2020 Apr.
7
Phase 1 Study of Molibresib (GSK525762), a Bromodomain and Extra-Terminal Domain Protein Inhibitor, in NUT Carcinoma and Other Solid Tumors.溴结构域和额外末端结构域蛋白抑制剂莫利西布(GSK525762)在NUT癌和其他实体瘤中的1期研究
JNCI Cancer Spectr. 2019 Nov 6;4(2):pkz093. doi: 10.1093/jncics/pkz093. eCollection 2020 Apr.
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NUT carcinoma in a nutshell: A diagnosis to be considered more frequently.NUT 癌简述:一种更应频繁考虑的诊断。
Pathol Res Pract. 2019 Jun;215(6):152347. doi: 10.1016/j.prp.2019.01.043. Epub 2019 Jan 30.
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Pathol Int. 2018 Nov;68(11):583-595. doi: 10.1111/pin.12727. Epub 2018 Oct 26.
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