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Updated: Apr 23, 2026
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Genetic profiling of thymic carcinoma using targeted next-generation sequencing
Masayuki Shitara1, Katsuhiro Okuda1, Ayumi Suzuki1
1Department of Oncology, Immunology and Surgery, Nagoya City University Graduate School of Medical Sciences, Nagoya 467-8601, Japan.
Objectives:
Thymic carcinoma is a rare mediastinal neoplasm and little is known about its tumorigenesis. There is no effective treatment except for complete resection, and the prognosis of advanced cases is poor. To identify the mutations associated with tumorigenesis, we analyzed genetic profile of thymic carcinoma using targeted next-generation sequencing.
Materials And Methods:
We sequenced about 409 cancer-related genes in 12 thymic squamous cell carcinoma tissues including 10 tumor/normal tissue pairs using Ion AmpliSeq Cancer Panel and Ion PGM Sequencer. We filtered the mutations with Ingenuity Variant Analysis, SIFT, PolyPhen-2, and PROVEAN.
Results And Conclusion:
Twenty-five candidate mutations in 24 genes were identified, including five tyrosine kinase genes (KIT, DDR2, PDGFRA, ROS1, IGF1R). There was no recurrent mutation among the samples studied. The KIT exon 11 deletion mutation in 1 patient was an activating mutation and may be an oncogenic driver mutation. Genetic profiling of thymic carcinoma using targeted next-generation sequencing was performed. The mutation status of thymic squamous cell carcinoma is highly heterogeneous.
Insights
Genetic analysis of thymic carcinoma revealed high mutation heterogeneity. A specific KIT gene mutation was identified as a potential oncogenic driver, offering new insights into thymic cancer development.
Area of Science:
- Oncology
- Genetics
- Genomics
Background:
- Thymic carcinoma is a rare mediastinal neoplasm with poorly understood tumorigenesis.
- Effective treatments are limited, and advanced cases have a poor prognosis.
Purpose of the Study:
- To identify mutations associated with thymic carcinoma tumorigenesis.
- To analyze the genetic profile of thymic carcinoma using targeted next-generation sequencing.
Main Methods:
- Targeted next-generation sequencing of approximately 409 cancer-related genes.
- Analysis of 12 thymic squamous cell carcinoma tissues (10 tumor/normal pairs).
- Mutation filtering using Ingenuity Variant Analysis, SIFT, PolyPhen-2, and PROVEAN.
Main Results:
- Identified 25 candidate mutations across 24 genes, including five tyrosine kinase genes (KIT, DDR2, PDGFRA, ROS1, IGF1R).
- No recurrent mutations were found among the studied samples.
- An activating KIT exon 11 deletion mutation was observed in one patient, suggesting it as a potential oncogenic driver.
Conclusions:
- Genetic profiling reveals significant heterogeneity in thymic squamous cell carcinoma.
- The identified KIT mutation may play a crucial role in thymic cancer development.
- Targeted next-generation sequencing is a viable method for characterizing thymic carcinoma.
