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| Main Authors: | , , , , , , |
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| Format: | Artículo Open Access |
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Wiley
2024
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| Online Access: | https://pathsocjournals.onlinelibrary.wiley.com/doi/10.1002/path.6324 |
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| _version_ | 1867005390310342656 |
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| author | Yulu Wang Qian Zhu Yaqing Wu Boyi Li Xiaoxing Su Chan Xiang Yuchen Han |
| author_facet | Yulu Wang Qian Zhu Yaqing Wu Boyi Li Xiaoxing Su Chan Xiang Yuchen Han Yulu Wang Qian Zhu Yaqing Wu Boyi Li Xiaoxing Su Chan Xiang Yuchen Han |
| collection | Wiley Open Access |
| contents | Multiregion exome sequencing indicates a monoclonal origin of esophageal spindle‐cell squamous cell carcinoma Yulu Wang Qian Zhu Yaqing Wu Boyi Li Xiaoxing Su Chan Xiang Yuchen Han The Journal of Pathology AbstractEsophageal spindle‐cell squamous cell carcinoma (ESS) is a rare biphasic neoplasm composed of a carcinomatous component (CaC) and a sarcomatous component (SaC). However, the genomic origin and gene signature of ESS remain unclear. Using whole‐exome sequencing of laser‐capture microdissection (LCM) tumor samples, we determined that CaC and SaC showed high mutational commonality, with the same top high‐frequency mutant genes, mutation signatures, and tumor mutation burden; paired samples shared a median of 25.5% mutation sites. Focal gains were found on chromosomes 3q29, 5p15.33, and 11q13.3. Altered genes were mainly enriched in the RTK–RAS signaling pathway. Phylogenetic trees showed a monoclonal origin of ESS. The most frequently mutated oncogene in the trunk was TP53, followed by NFE2L2, KMT2D, and MUC16. Prognostic associations were found for CDC27, LRP2, APC, and SNAPC4. Our data highlight the monoclonal origin of ESS with TP53 as a potent driver oncogene, suggesting new targeted therapies and immunotherapies as treatment options. © 2024 The Pathological Society of Great Britain and Ireland. 10.1002/path.6324 http://onlinelibrary.wiley.com/termsAndConditions#vor |
| doi_str_mv | 10.1002/path.6324 |
| format | Artículo Open Access |
| id | wiley_oa_10_1002_path_6324 |
| institution | Wiley Open Access |
| license_str_mv | http://onlinelibrary.wiley.com/termsAndConditions#vor |
| publishDate | 2024 |
| publisher | Wiley |
| record_format | wiley_oa |
| spellingShingle | Multiregion exome sequencing indicates a monoclonal origin of esophageal spindle‐cell squamous cell carcinoma Yulu Wang Qian Zhu Yaqing Wu Boyi Li Xiaoxing Su Chan Xiang Yuchen Han The Journal of Pathology Multiregion exome sequencing indicates a monoclonal origin of esophageal spindle‐cell squamous cell carcinoma Yulu Wang Qian Zhu Yaqing Wu Boyi Li Xiaoxing Su Chan Xiang Yuchen Han The Journal of Pathology AbstractEsophageal spindle‐cell squamous cell carcinoma (ESS) is a rare biphasic neoplasm composed of a carcinomatous component (CaC) and a sarcomatous component (SaC). However, the genomic origin and gene signature of ESS remain unclear. Using whole‐exome sequencing of laser‐capture microdissection (LCM) tumor samples, we determined that CaC and SaC showed high mutational commonality, with the same top high‐frequency mutant genes, mutation signatures, and tumor mutation burden; paired samples shared a median of 25.5% mutation sites. Focal gains were found on chromosomes 3q29, 5p15.33, and 11q13.3. Altered genes were mainly enriched in the RTK–RAS signaling pathway. Phylogenetic trees showed a monoclonal origin of ESS. The most frequently mutated oncogene in the trunk was TP53, followed by NFE2L2, KMT2D, and MUC16. Prognostic associations were found for CDC27, LRP2, APC, and SNAPC4. Our data highlight the monoclonal origin of ESS with TP53 as a potent driver oncogene, suggesting new targeted therapies and immunotherapies as treatment options. © 2024 The Pathological Society of Great Britain and Ireland. 10.1002/path.6324 http://onlinelibrary.wiley.com/termsAndConditions#vor |
| title | Multiregion exome sequencing indicates a monoclonal origin of esophageal spindle‐cell squamous cell carcinoma |
| topic | The Journal of Pathology |
| url | https://pathsocjournals.onlinelibrary.wiley.com/doi/10.1002/path.6324 |