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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Hotspot mutations in common oncogenes are infrequent in nasopharyngeal carcinoma
Ning Jiang1, Na Liu1, Fan Yang2
1State Key Laboratory of Oncology in Southern China, Sun Yat-sen University Cancer Center, Guangzhou, Guangdong 510060, P.R. China.
Abstract:
Oncogene mutations contribute to carcinogenesis and can provide potential therapeutic targets for clinical anticancer management. However, oncogene mutation patterns in nasopharyngeal carcinoma (NPC) have yet to be fully elucidated. To gain insight into mutation patterns in NPC, a high-throughput OncoCarta panel assay was used to determine 238 hotspot mutations across 19 common oncogenes in 8 NPC cell lines and 160 NPC patient samples from southern China. Statistical analyses were further conducted to identify associations between oncogene mutations and selected clinicopathological characteristics. In total, we identified 24 mutations across 11 oncogenes in 17 (10.6%) NPC patients. Four patients exhibited mutations in at least one oncogene. We also identified a PIK3CA H1047R mutant in 7 NPC cell lines. In addition, oncogene mutations showed no correlation with either risk habits (smoking and drinking) or other clinical characteristics except for TNM stage. KIT mutations were associated with poorer overall and relapse-free survival. Furthermore, KIT mutations together with age and N stage were independent prognostic factors in NPC. Taken together, the present study is the first report on mutations in multiple oncogenes in NPC. We found that hotspot oncogene mutations are infrequent in NPC patients from southern China. The lack of hotspot mutations requires a comprehensive characterization of gene mutations in NPC for developing new therapeutic targets in the future.
Insights
Hotspot oncogene mutations are infrequent in nasopharyngeal carcinoma (NPC) patients from southern China. KIT mutations, however, are linked to poorer survival and serve as independent prognostic factors in NPC.
Area of Science:
- Oncology
- Genetics
- Cancer Research
Background:
- Oncogene mutations drive cancer development and offer therapeutic targets.
- Understanding oncogene mutation patterns in nasopharyngeal carcinoma (NPC) is crucial for effective treatment.
Purpose of the Study:
- To investigate the patterns of oncogene mutations in NPC.
- To identify associations between mutations and clinical characteristics.
- To explore the prognostic significance of oncogene mutations in NPC.
Main Methods:
- Utilized a high-throughput OncoCarta panel assay to analyze 238 hotspot mutations in 19 oncogenes.
- Examined 8 NPC cell lines and 160 NPC patient samples from southern China.
- Performed statistical analyses to correlate mutations with clinicopathological factors.
Main Results:
- Identified 24 mutations across 11 oncogenes in 17 (10.6%) NPC patients; four patients had at least one mutation.
- A PIK3CA H1047R mutant was found in 7 NPC cell lines.
- KIT mutations correlated with poorer overall and relapse-free survival and were independent prognostic factors along with age and N stage.
Conclusions:
- Hotspot oncogene mutations are uncommon in NPC patients from southern China.
- KIT mutations represent a significant prognostic marker in NPC.
- Comprehensive genomic characterization is needed for future NPC therapeutic target development.
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