Molecular profiles and tumor mutational burden analysis in Chinese patients with gynecologic cancers

Abstract The goal of this work was to investigate the tumor mutational burden (TMB) in Chinese patients with gynecologic cancer. In total, 117 patients with gynecologic cancers were included in this study. Both tumor DNA and paired blood cell genomic DNA were isolated from formalin-fixed paraffin-em...

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Autores principales:	Min Wang, Wensheng Fan, Mingxia Ye, Chen Tian, Lili Zhao, Jianfei Wang, Wenbo Han, Wen Yang, Chenglei Gu, Mingxia Li, Zhe Zhang, Yongjun Wang, Henghui Zhang, Yuanguang Meng
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2018
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/6baae53a768f49d4a99c525d82de9a28
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spelling	oai:doaj.org-article:6baae53a768f49d4a99c525d82de9a282021-12-02T11:41:03ZMolecular profiles and tumor mutational burden analysis in Chinese patients with gynecologic cancers10.1038/s41598-018-25583-62045-2322https://doaj.org/article/6baae53a768f49d4a99c525d82de9a282018-06-01T00:00:00Zhttps://doi.org/10.1038/s41598-018-25583-6https://doaj.org/toc/2045-2322Abstract The goal of this work was to investigate the tumor mutational burden (TMB) in Chinese patients with gynecologic cancer. In total, 117 patients with gynecologic cancers were included in this study. Both tumor DNA and paired blood cell genomic DNA were isolated from formalin-fixed paraffin-embedded (FFPE) specimens and blood samples, and next-generation sequencing was performed to identify somatic mutations. TP53, PTEN, ARID1A, and PIK3CA alterations were significantly different in various types of gynecologic cancers (p = 0.001, 1.15E-07, 0.004, and 0.009, respectively). The median TMB of all 117 gynecologic tumor specimens was 0.37 mutations/Mb, with a range of 0–41.45 mutations/Mb. Despite the lack of significant difference, endometrial cancer cases had a higher median TMB than cervical and ovarian cancer cases. Younger gynecologic cancer patients (age <40 years) had a significantly lower TMB than older patients (age ≥40 years) (p = 0.04). In addition, TMB was significantly increased with increasing clinical stage of disease (p = 0.001). PTEN alterations were commonly observed in patients with a moderate to high TMB (n = 8, 38.10%, p = 9.95E-04). Although limited by sample size, all of the patients with TSC2 (n = 3, p = 3.83E-11) or POLE (n = 2, p = 0.005) mutations had a moderate to high TMB. Further large-scale, prospective studies are needed to validate our findings.Min WangWensheng FanMingxia YeChen TianLili ZhaoJianfei WangWenbo HanWen YangChenglei GuMingxia LiZhe ZhangYongjun WangHenghui ZhangYuanguang MengNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 8, Iss 1, Pp 1-9 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Min Wang Wensheng Fan Mingxia Ye Chen Tian Lili Zhao Jianfei Wang Wenbo Han Wen Yang Chenglei Gu Mingxia Li Zhe Zhang Yongjun Wang Henghui Zhang Yuanguang Meng Molecular profiles and tumor mutational burden analysis in Chinese patients with gynecologic cancers
description	Abstract The goal of this work was to investigate the tumor mutational burden (TMB) in Chinese patients with gynecologic cancer. In total, 117 patients with gynecologic cancers were included in this study. Both tumor DNA and paired blood cell genomic DNA were isolated from formalin-fixed paraffin-embedded (FFPE) specimens and blood samples, and next-generation sequencing was performed to identify somatic mutations. TP53, PTEN, ARID1A, and PIK3CA alterations were significantly different in various types of gynecologic cancers (p = 0.001, 1.15E-07, 0.004, and 0.009, respectively). The median TMB of all 117 gynecologic tumor specimens was 0.37 mutations/Mb, with a range of 0–41.45 mutations/Mb. Despite the lack of significant difference, endometrial cancer cases had a higher median TMB than cervical and ovarian cancer cases. Younger gynecologic cancer patients (age <40 years) had a significantly lower TMB than older patients (age ≥40 years) (p = 0.04). In addition, TMB was significantly increased with increasing clinical stage of disease (p = 0.001). PTEN alterations were commonly observed in patients with a moderate to high TMB (n = 8, 38.10%, p = 9.95E-04). Although limited by sample size, all of the patients with TSC2 (n = 3, p = 3.83E-11) or POLE (n = 2, p = 0.005) mutations had a moderate to high TMB. Further large-scale, prospective studies are needed to validate our findings.
format	article
author	Min Wang Wensheng Fan Mingxia Ye Chen Tian Lili Zhao Jianfei Wang Wenbo Han Wen Yang Chenglei Gu Mingxia Li Zhe Zhang Yongjun Wang Henghui Zhang Yuanguang Meng
author_facet	Min Wang Wensheng Fan Mingxia Ye Chen Tian Lili Zhao Jianfei Wang Wenbo Han Wen Yang Chenglei Gu Mingxia Li Zhe Zhang Yongjun Wang Henghui Zhang Yuanguang Meng
author_sort	Min Wang
title	Molecular profiles and tumor mutational burden analysis in Chinese patients with gynecologic cancers
title_short	Molecular profiles and tumor mutational burden analysis in Chinese patients with gynecologic cancers
title_full	Molecular profiles and tumor mutational burden analysis in Chinese patients with gynecologic cancers
title_fullStr	Molecular profiles and tumor mutational burden analysis in Chinese patients with gynecologic cancers
title_full_unstemmed	Molecular profiles and tumor mutational burden analysis in Chinese patients with gynecologic cancers
title_sort	molecular profiles and tumor mutational burden analysis in chinese patients with gynecologic cancers
publisher	Nature Portfolio
publishDate	2018
url	https://doaj.org/article/6baae53a768f49d4a99c525d82de9a28
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Molecular profiles and tumor mutational burden analysis in Chinese patients with gynecologic cancers

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