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Peer-reviewedCC BY-NC 4.0Therapeutic Advances in Medical Oncology

Clinicopathologic and molecular features of head and neck NUT carcinoma: Analysis of 25 cases, including 5 with adenoid differentiation

  • Yunyun Yang1
  • Yue Hao2
  • Chunwei Xu3
  • Yahui Li1
  • Xiaochen Li1
  • Honggang Liu1
  • Yingshi Piao1,4
4 affiliations
  1. 1Department of Pathology, Beijing Tongren Hospital Affiliated to Capital Medical University, Beijing, China
  2. 2Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, Jiangsu, People’s Republic of China
  3. 3Hangzhou Institute of Medicine (HIM), Chinese Academy of Sciences, Hangzhou, Zhejiang, China
  4. 4Beijing Key Laboratory of Head and Neck Molecular Diagnostic Pathology, Beijing, China
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Abstract

Background: Nuclear protein in testis (NUT) carcinoma is a highly aggressive malignancy driven by NUTM1 gene fusions, with a median overall survival of 6.5–10.6 months. A comprehensive summary of the morphological and molecular features of head and neck NUT carcinoma is lacking, resulting in inconsistencies in diagnosis and treatment.

Objective: To characterize the pathological and molecular features of primary head and neck NUT carcinoma and explore optimal management strategies.

Design: This study was a single-center retrospective analysis.

Methods: Fluorescence in situ hybridization was used to detect NUTM1 gene rearrangements. RNA sequencing was performed to analyze the genomic and immune landscapes. Overall survival (OS) was evaluated in relation to patient characteristics and treatment modalities.

Results: This study included 25 patients with NUT carcinoma. Adenoid differentiation was observed in 5 cases (2 NSD3 fusions, 1 BRD3 fusion, and 2 BRD4 fusions). Neuroendocrine differentiation was identified in 9 cases (36%). The most common NUT fusion partner was BRD4 (86%), followed by NSD3 (9%) and BRD3 (5%). Tumors with adenoid differentiation showed significant upregulation of COL4A5, H2AFY2, and FLJ00104 and significantly reduced M2 macrophage infiltration (P < 0.05). Compared with the BRD3/BRD4 fusion group, the NSD3 fusion group exhibited 407 downregulated and 14 upregulated genes (FDR < 0.05). Tumors with BRD3/BRD4 fusions had a significantly lower proportion of resting CD4+ memory T cells than those with NSD3 fusions (P < 0.05). The neuroendocrine-positive subgroup showed significant overexpression of PHF21B (P = 0.025). Follow-up data indicated that early radiotherapy significantly reduced mortality (P = 0.017). Patients with neuroendocrine differentiation had significantly higher mortality than those without (P = 0.019).

Conclusion: Patients with NUT with adenoid differentiation or different gene fusions exhibit distinct gene expression profiles and immune landscapes. Neuroendocrine differentiation is associated with poor prognosis. Radiotherapy may be associated with favourable outcomes and warrants further investigation.

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Cite

BibTeXRIS
BibTeX
@article{yang2026clinicopathologic,
  title = {{Clinicopathologic and molecular features of head and neck NUT carcinoma: Analysis of 25 cases, including 5 with adenoid differentiation}},
  author = {Yunyun Yang and Yue Hao and Chunwei Xu and Yahui Li and Xiaochen Li and Honggang Liu and Yingshi Piao},
  journal = {Therapeutic Advances in Medical Oncology},
  year = {2026},
  month = sep,
  doi = {10.1177/17588359261490610},
  url = {https://doi.org/10.1177/17588359261490610},
  note = {CC BY-NC 4.0},
}
RIS
TY  - JOUR
TI  - Clinicopathologic and molecular features of head and neck NUT carcinoma: Analysis of 25 cases, including 5 with adenoid differentiation
AU  - Yunyun Yang
AU  - Yue Hao
AU  - Chunwei Xu
AU  - Yahui Li
AU  - Xiaochen Li
AU  - Honggang Liu
AU  - Yingshi Piao
PY  - 2026
DA  - 2026/09/21
JO  - Therapeutic Advances in Medical Oncology
DO  - 10.1177/17588359261490610
UR  - https://doi.org/10.1177/17588359261490610
AB  - Background: Nuclear protein in testis (NUT) carcinoma is a highly aggressive malignancy driven by NUTM1 gene fusions, with a median overall survival of 6.5–10.6 months. A comprehensive summary of the morphological and molecular features of head and neck NUT carcinoma is lacking, resulting in inconsistencies in diagnosis and treatment.  Objective: To characterize the pathological and molecular features of primary head and neck NUT carcinoma and explore optimal management strategies.  Design: This study was a single-center retrospective analysis.  Methods: Fluorescence in situ hybridization was used to detect NUTM1 gene rearrangements. RNA sequencing was performed to analyze the genomic and immune landscapes. Overall survival (OS) was evaluated in relation to patient characteristics and treatment modalities.  Results: This study included 25 patients with NUT carcinoma. Adenoid differentiation was observed in 5 cases (2 NSD3 fusions, 1 BRD3 fusion, and 2 BRD4 fusions). Neuroendocrine differentiation was identified in 9 cases (36%). The most common NUT fusion partner was BRD4 (86%), followed by NSD3 (9%) and BRD3 (5%). Tumors with adenoid differentiation showed significant upregulation of COL4A5, H2AFY2, and FLJ00104 and significantly reduced M2 macrophage infiltration (P < 0.05). Compared with the BRD3/BRD4 fusion group, the NSD3 fusion group exhibited 407 downregulated and 14 upregulated genes (FDR < 0.05). Tumors with BRD3/BRD4 fusions had a significantly lower proportion of resting CD4+ memory T cells than those with NSD3 fusions (P < 0.05). The neuroendocrine-positive subgroup showed significant overexpression of PHF21B (P = 0.025). Follow-up data indicated that early radiotherapy significantly reduced mortality (P = 0.017). Patients with neuroendocrine differentiation had significantly higher mortality than those without (P = 0.019).  Conclusion: Patients with NUT with adenoid differentiation or different gene fusions exhibit distinct gene expression profiles and immune landscapes. Neuroendocrine differentiation is associated with poor prognosis. Radiotherapy may be associated with favourable outcomes and warrants further investigation.
SN  - 1758-8340
SN  - 1758-8359
ER  -