Article record

喉部NUT癌伴BRD4::NUTM1融合：一个4年临床病程突显当前多模式治疗的局限性

Laryngeal NUT Carcinoma With BRD4::NUTM1 Fusion: A 4-Year Clinical Course Highlighting the Limitations of Current Multimodal Therapy.

临床研究咽喉科IF 2.3Q3

文献信息

PMID	42711284
原文	在 PubMed 查看原文 ↗
发表日期	2026
作者	Masafumi Kanno 查看其他 15 位作者 Chiai Sasaki；Eiichi Kato；Hoshino Terada；Nobuhiro Hanai；Eiichi Sasaki；Mana Fukushima；Toshiki Masuishi；Keisuke Takanari；Yasuto Fukada；Yuto Miyazaki；Yuki Sonoda；Yukinori Kato；Taiyo Morikawa；Tetsuji Takabayashi；Shigeharu Fujieda
作者单位	Division of Otorhinolaryngology-Head and Neck Surgery, Department of Sensory and Locomotor Medicine, Faculty of Medical Sciences, University of Fukui, Fukui, Japan. 查看其他 6 条单位信息 Department of Head and Neck Surgery, Aichi Cancer Center Hospital, Nagoya, Japan.；Department of Pathology and Molecular Diagnostics, Aichi Cancer Center Hospital, Nagoya, Japan.；Department of Pathology, Faculty of Medical Sciences, University of Fukui, Fukui, Japan.；Department of Clinical Oncology, Aichi Cancer Center Hospital, Nagoya, Japan.；Department of Plastic and Reconstructive Surgery, Aichi Cancer Center Hospital, Nagoya, Japan.；Department of Plastic and Reconstructive Surgery, Okayama University, Okayama, Japan.
期刊	Cancer reports (Hoboken, N.J.)
SCI 分区	Q3
IF	2.3
研究类型	临床研究 · 临床
所属专科	咽喉科

中文摘要

背景： 睾丸核蛋白（NUT）癌是一种由NUTM1重排驱动的罕见、侵袭性恶性肿瘤，常被误诊为鳞状细胞癌，且尚无确立的标准治疗。本报告描述了原发性喉部NUT癌的临床病程和治疗耐药性，并为潜在的基于机制的治疗方法提供了见解。
病例： 一名30岁男性因喉部肿瘤最初接受低分化鳞状细胞癌治疗。疾病复发促使重新评估；通过NUT免疫组织化学诊断为NUT癌，并通过分子分析确认BRD4::NUTM1融合。一种溴结构域和超末端（BET）抑制剂以及交替使用的长春新碱、多柔比星和环磷酰胺（VDC）/异环磷酰胺和依托泊苷（IE）化疗诱导了短暂的肿瘤消退，而伏立诺他、免疫检查点抑制剂和其他全身治疗无效。疾病进展最终由不受控制的局部区域复发驱动。尸检显示一个巨大的浸润性肿瘤，伴有广泛的局部区域侵犯，而远处转移性疾病仅限于微小的肺部结节；死亡源于不受控制的局部区域进展继发的压倒性感染，而非全身性转移。
结论： 早期分子诊断和基于生物学信息的多模式策略对于管理喉部NUT癌和克服治疗耐药性至关重要。

英文摘要

BACKGROUND: Nuclear protein in testis (NUT) carcinoma is a rare, aggressive malignancy driven by NUTM1 rearrangement, often misdiagnosed as squamous cell carcinoma, with no established standard therapy. This report describes the clinical course and treatment resistance in primary laryngeal NUT carcinoma and provides insights into potential mechanism-based therapeutic approaches.
CASE: A 30-year-old man with a laryngeal tumor was initially treated for poorly differentiated squamous cell carcinoma. Recurrent disease prompted re-evaluation; NUT carcinoma was diagnosed by NUT immunohistochemistry, and the BRD4::NUTM1 fusion was confirmed by molecular analysis. A bromodomain and extra-terminal (BET) inhibitor and alternating vincristine, doxorubicin, and cyclophosphamide (VDC)/ifosfamide and etoposide (IE) chemotherapy induced transient tumor regression, whereas vorinostat, immune checkpoint inhibitors, and other systemic therapies were ineffective. Disease progression was ultimately driven by uncontrolled locoregional recurrence. Autopsy revealed a massive infiltrative tumor with extensive locoregional invasion, whereas distant metastatic disease was limited to minute pulmonary nodules; death resulted from overwhelming infection secondary to uncontrolled locoregional progression rather than systemic metastasis.
CONCLUSION: Early molecular diagnosis and biologically informed multimodal strategies are essential for managing laryngeal NUT carcinoma and overcoming treatment resistance.