ORIGINAL RESEARCH article
Front. Oncol.
Sec. Head and Neck Cancer
This article is part of the Research TopicAdvancements in Personalized Medicine for Head and Neck Cancer: Molecular-based Approaches to Treatment and CareView all 21 articles
Genomic Profiling and HER2-Targeted Therapy: A Case Series of Chinese Salivary Duct Carcinoma Patients and Its Clinical Implications
Provisionally accepted- 1Department of Radiation Oncology, Chinese PLA General Hospital, Beijing, China
- 2Genetron Health Beijing Co Ltd, Beijing, China
- 3Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
- 4Central Military Commission Joint Staff Department, Beijing, China
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Purpose Salivary duct carcinoma (SDC) is a rare and aggressive subtype of salivary gland cancers (SGCs). Currently, there is no approved targeted therapy for this devastating disease. This study aimed to identify actionable genomic alterations in Chinese patients with SDC and explore the clinical efficacy of human epidermal growth factor receptor 2 (HER2)-targeted therapies in this population. Methods Somatic and genomic DNA were isolated from SDC samples and the corresponding peripheral blood controls, respectively. To explore the potential of targeted therapy, next-generation sequencing (NGS) was used to identify genomic alterations, especially mutations with clinical significance. Results The most prevalent driver mutations in this SDC cohort are TP53, HER2, PIK3CA, HRAS, and NF1. Except for TP53, the other four driver mutations are targetable. We identified three novel HER2 mutations (D769H, H878Y, and an exon 16 skipping mutation) in SDC, marking the first report of these mutations in this cancer type. Two metastatic SDC patients with HER2 amplification responded to HER2 tyrosine kinase inhibitor (TKI) pyrotinib and the combination of trastuzumab and pertuzumab, respectively. Conclusion Our work underscores the potential of genomic profiling to guide precision therapy in SDC, with HER2-targeted treatments offering promising therapeutic avenues.
Keywords: Driver mutation, HER2-targeted therapy, Pertuzumab, Pyrotinib, salivaryduct carcinoma, trastuzumab
Received: 17 Oct 2025; Accepted: 09 Feb 2026.
Copyright: © 2026 Huang, Yu, Li, Cai, Baolin, Chen, Zhang, Chen, Liu, Feng, Gui and Liu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Lin Gui
Fang Liu
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