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A rare multiple primary sarcomatoid carcinoma (SCA) of small intestine harboring driver gene mutations: a case report and a literature review
Primary sarcomatoid carcinoma (SCA) is a type of rare tumor consisting of both malignant epithelial and mesenchymal components. Only 32 cases of SCA of the small bowel have been reported in the literature to date. Due to its rarity and complexity, this cancer has not been genetically studied and its...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
AME Publishing Company
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8798874/ https://www.ncbi.nlm.nih.gov/pubmed/35116442 http://dx.doi.org/10.21037/tcr-20-2829 |
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author | Zhu, Zhu Liu, Xinyi Li, Wenliang Wen, Zhengqi Ji, Xiang Zhou, Ruize Tuo, Xiaoyu Chen, Yaru Gong, Xian Liu, Guifeng Zhou, Yanqing Chen, Shifu Song, Lele Huang, Jian |
author_facet | Zhu, Zhu Liu, Xinyi Li, Wenliang Wen, Zhengqi Ji, Xiang Zhou, Ruize Tuo, Xiaoyu Chen, Yaru Gong, Xian Liu, Guifeng Zhou, Yanqing Chen, Shifu Song, Lele Huang, Jian |
author_sort | Zhu, Zhu |
collection | PubMed |
description | Primary sarcomatoid carcinoma (SCA) is a type of rare tumor consisting of both malignant epithelial and mesenchymal components. Only 32 cases of SCA of the small bowel have been reported in the literature to date. Due to its rarity and complexity, this cancer has not been genetically studied and its diagnosis and treatment remain difficult. Here we report a 54-year-old male underwent emergency surgical resection in the small intestine due to severe obstruction and was diagnosed with multiple SCA based on postoperative pathological examination. Over 100 polypoid tumors scattered along his whole jejunum and proximal ileum. Chemotherapy (IFO+Epirubicin) was performed after surgery while the patient died two months after the surgery due to severe malnutrition. Whole-exome sequencing was performed for the tumor tissue with normal tissue as the control. Important cancer-related gene mutations, including KRAS (c.37G>T, p.G13C), TP53 (c.871A>T, p.K291*), EGFR (c.1351C>T, p.R451C), and CDKN2A (c.104_138del, p.G35fs), were found among 286 nonsynonymous somatic mutations (SNV and Indel). Copy-number amplified genes mainly gathered in chromosome 6, 7, 16 and 20. Mutation clustering analysis showed that main genetic abnormalities included DNA methylation, DNA alkylation, cellular homeostasis, and shared similarities with melanoma, glioma, prostate cancer, bladder cancer, non-small cell lung cancer, and pancreatic cancer. In summary, the genomic features of the small intestine SCA were explored at whole-exome level for the first time, and over 200 somatic mutations were identified in the tumor tissue. Key tumor driver gene mutations were revealed, as well as several aberrant functional pathways. These results contribute to further understanding of the pathogenesis and molecular mechanism of this rare tumor. |
format | Online Article Text |
id | pubmed-8798874 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | AME Publishing Company |
record_format | MEDLINE/PubMed |
spelling | pubmed-87988742022-02-02 A rare multiple primary sarcomatoid carcinoma (SCA) of small intestine harboring driver gene mutations: a case report and a literature review Zhu, Zhu Liu, Xinyi Li, Wenliang Wen, Zhengqi Ji, Xiang Zhou, Ruize Tuo, Xiaoyu Chen, Yaru Gong, Xian Liu, Guifeng Zhou, Yanqing Chen, Shifu Song, Lele Huang, Jian Transl Cancer Res Case Report Primary sarcomatoid carcinoma (SCA) is a type of rare tumor consisting of both malignant epithelial and mesenchymal components. Only 32 cases of SCA of the small bowel have been reported in the literature to date. Due to its rarity and complexity, this cancer has not been genetically studied and its diagnosis and treatment remain difficult. Here we report a 54-year-old male underwent emergency surgical resection in the small intestine due to severe obstruction and was diagnosed with multiple SCA based on postoperative pathological examination. Over 100 polypoid tumors scattered along his whole jejunum and proximal ileum. Chemotherapy (IFO+Epirubicin) was performed after surgery while the patient died two months after the surgery due to severe malnutrition. Whole-exome sequencing was performed for the tumor tissue with normal tissue as the control. Important cancer-related gene mutations, including KRAS (c.37G>T, p.G13C), TP53 (c.871A>T, p.K291*), EGFR (c.1351C>T, p.R451C), and CDKN2A (c.104_138del, p.G35fs), were found among 286 nonsynonymous somatic mutations (SNV and Indel). Copy-number amplified genes mainly gathered in chromosome 6, 7, 16 and 20. Mutation clustering analysis showed that main genetic abnormalities included DNA methylation, DNA alkylation, cellular homeostasis, and shared similarities with melanoma, glioma, prostate cancer, bladder cancer, non-small cell lung cancer, and pancreatic cancer. In summary, the genomic features of the small intestine SCA were explored at whole-exome level for the first time, and over 200 somatic mutations were identified in the tumor tissue. Key tumor driver gene mutations were revealed, as well as several aberrant functional pathways. These results contribute to further understanding of the pathogenesis and molecular mechanism of this rare tumor. AME Publishing Company 2021-02 /pmc/articles/PMC8798874/ /pubmed/35116442 http://dx.doi.org/10.21037/tcr-20-2829 Text en 2021 Translational Cancer Research. All rights reserved. https://creativecommons.org/licenses/by-nc-nd/4.0/Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/. |
spellingShingle | Case Report Zhu, Zhu Liu, Xinyi Li, Wenliang Wen, Zhengqi Ji, Xiang Zhou, Ruize Tuo, Xiaoyu Chen, Yaru Gong, Xian Liu, Guifeng Zhou, Yanqing Chen, Shifu Song, Lele Huang, Jian A rare multiple primary sarcomatoid carcinoma (SCA) of small intestine harboring driver gene mutations: a case report and a literature review |
title | A rare multiple primary sarcomatoid carcinoma (SCA) of small intestine harboring driver gene mutations: a case report and a literature review |
title_full | A rare multiple primary sarcomatoid carcinoma (SCA) of small intestine harboring driver gene mutations: a case report and a literature review |
title_fullStr | A rare multiple primary sarcomatoid carcinoma (SCA) of small intestine harboring driver gene mutations: a case report and a literature review |
title_full_unstemmed | A rare multiple primary sarcomatoid carcinoma (SCA) of small intestine harboring driver gene mutations: a case report and a literature review |
title_short | A rare multiple primary sarcomatoid carcinoma (SCA) of small intestine harboring driver gene mutations: a case report and a literature review |
title_sort | rare multiple primary sarcomatoid carcinoma (sca) of small intestine harboring driver gene mutations: a case report and a literature review |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8798874/ https://www.ncbi.nlm.nih.gov/pubmed/35116442 http://dx.doi.org/10.21037/tcr-20-2829 |
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