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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...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
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.
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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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