Song Zhang, Jiahui Tang, Pin Cui, Weihuang He, Xiaohui Lin, Shubing Wang, Yuanxian Liu, Xiaohua Tan, Shu Xu, Mingji Feng, Hanming Lai
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Accurate and Efficient Detection of Nasopharyngeal Carcinoma Using Multi-Dimensional Features of Plasma Cell-Free DNA.
Background: The incidence of Nasopharyngeal carcinoma (NPC) is rising in recent years, especially in some non-developed parts of the world. Hence, cost-efficient means for sensitive detection of NPC are vital.
Methods: We recruited 646 participants, including healthy individuals, patients with benign nasopharyngeal diseases, and NPC patients for plasma cell-free DNA(cfDNA), which underwent low-depth whole-genome sequencing (WGS) to extract multi-dimensional molecular features, including fragmentation pattern, end motif, copy number variation(CNV), and transcription factors(TF). Based on these features, we employed a machine learning algorithm to build prediction models for NPC detection.
Results: We achieved a sensitivity of 95.8% and a specificity of 99.4% to discriminate NPC patients from healthy individuals.
Conclusions: This study can be a proof-of-concept for these multi-dimensional molecular features to be implemented as a noninvasive approach for the detection and even early detection of NPC.
期刊介绍：
Head & Neck is an international multidisciplinary publication of original contributions concerning the diagnosis and management of diseases of the head and neck. This area involves the overlapping interests and expertise of several surgical and medical specialties, including general surgery, neurosurgery, otolaryngology, plastic surgery, oral surgery, dermatology, ophthalmology, pathology, radiotherapy, medical oncology, and the corresponding basic sciences.
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