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Published on: April 22, 2019
A mutational profile in multiple thymic squamous cell carcinoma
Chun Jin1, Cheng Yan2, Yi Zhang1
1Department of Thoracic Surgery, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
Background:
Multiple thymic squamous cell carcinoma (TSCC) is a rare thymic epithelial tumor with a dismal prognosis. Mutational profiles of multiple TSCC may expand our understanding of tumorigenesis and treatment options for these tumors.
Methods:
We sequenced the whole exomes of 3 TSCC nodules from a multiple TSCC patient and a paired peripheral blood sample and identified single-nucleotide variants and small insertions and deletions, and also performed gene ontological and pathway analyses.
Results:
The 3 TSCC nodules were subjected to hematoxylin-eosin staining, and the results showed that these 3 nodules were highly similar with respect to histology. We identified 116, 94 and 98 non-synonymous somatic mutations in the 3 TSCC nodules, and 34 mutations, including mutations in TP53 and ARID1A, among others, were present in all 3 TSCC nodules. We then performed immunohistochemistry to assess two selected genes, TP53 and ARID1A, and found that the 3 TSCC nodules expressed similar levels of TP53 and ARID1A. Further gene ontological analysis and pathway analysis revealed that the 3 TSCC nodules also had similar significantly enriched pathways based on the identified genetic alterations. These results demonstrated that the 3 multiple TSCC nodules were spatially independent of each other but were highly similar with respect to histological sources and genetic characteristics, suggesting that 2 TSCC nodules were likely metastases of the third nodule.
Conclusions:
These findings suggest that TSCC cells can be transferred to other sites inside the thymus and that total thymectomy is a good treatment option for thymic epithelial tumors.
Insights
Multiple thymic squamous cell carcinoma (TSCC) nodules from one patient shared similar genetic profiles, suggesting metastasis within the thymus. This indicates total thymectomy may be an effective treatment for thymic epithelial tumors.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- Multiple thymic squamous cell carcinoma (TSCC) is a rare thymic epithelial tumor with a poor prognosis.
- Understanding the mutational profiles of multiple TSCC is crucial for advancing tumorigenesis research and treatment strategies.
Purpose of the Study:
- To investigate the genetic landscape of multiple TSCC nodules within a single patient.
- To determine the relationship between spatially distinct TSCC nodules and inform treatment approaches.
Main Methods:
- Whole-exome sequencing of three TSCC nodules and paired peripheral blood.
- Identification of single-nucleotide variants and small insertions/deletions.
- Gene ontology and pathway analyses, alongside immunohistochemistry for TP53 and ARID1A.
Main Results:
- The three TSCC nodules exhibited highly similar histology and shared 34 common non-synonymous somatic mutations, including in TP53 and ARID1A.
- Immunohistochemistry confirmed similar TP53 and ARID1A expression levels across nodules.
- Genetic alterations revealed similar significantly enriched pathways, indicating a common origin despite spatial independence.
Conclusions:
- The findings suggest intrathymic metastasis of TSCC cells.
- Total thymectomy is proposed as a potentially effective treatment for thymic epithelial tumors.
