A Portrait of Intratumoral Genomic and Transcriptomic Heterogeneity at Single-Cell Level in Colorectal Cancer

In the study of cancer, omics technologies are supporting the transition from traditional clinical approaches to precision medicine. Intra-tumoral heterogeneity (ITH) is detectable within a single tumor in which cancer cell subpopulations with different genome features coexist in a patient in differ...

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Autores principales:	Andrea Angius, Antonio Mario Scanu, Caterina Arru, Maria Rosaria Muroni, Ciriaco Carru, Alberto Porcu, Paolo Cossu-Rocca, Maria Rosaria De Miglio
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	colorectal carcinoma intratumor heterogeneity single-cell next-generation sequencing precision medicine Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/ea6821f704194917a70835626122bcde
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spelling	oai:doaj.org-article:ea6821f704194917a70835626122bcde2021-11-25T18:19:00ZA Portrait of Intratumoral Genomic and Transcriptomic Heterogeneity at Single-Cell Level in Colorectal Cancer10.3390/medicina571112571648-91441010-660Xhttps://doaj.org/article/ea6821f704194917a70835626122bcde2021-11-01T00:00:00Zhttps://www.mdpi.com/1648-9144/57/11/1257https://doaj.org/toc/1010-660Xhttps://doaj.org/toc/1648-9144In the study of cancer, omics technologies are supporting the transition from traditional clinical approaches to precision medicine. Intra-tumoral heterogeneity (ITH) is detectable within a single tumor in which cancer cell subpopulations with different genome features coexist in a patient in different tumor areas or may evolve/differ over time. Colorectal carcinoma (CRC) is characterized by heterogeneous features involving genomic, epigenomic, and transcriptomic alterations. The study of ITH is a promising new frontier to lay the foundation towards successful CRC diagnosis and treatment. Genome and transcriptome sequencing together with editing technologies are revolutionizing biomedical research, representing the most promising tools for overcoming unmet clinical and research challenges. Rapid advances in both bulk and single-cell next-generation sequencing (NGS) are identifying primary and metastatic intratumoral genomic and transcriptional heterogeneity. They provide critical insight in the origin and spatiotemporal evolution of genomic clones responsible for early and late therapeutic resistance and relapse. Single-cell technologies can be used to define subpopulations within a known cell type by searching for differential gene expression within the cell population of interest and/or effectively isolating signal from rare cell populations that would not be detectable by other methods. Each single-cell sequencing analysis is driven by clustering of cells based on their differentially expressed genes. Genes that drive clustering can be used as unique markers for a specific cell population. In this review we analyzed, starting from published data, the possible achievement of a transition from clinical CRC research to precision medicine with an emphasis on new single-cell based techniques; at the same time, we focused on all approaches and issues related to this promising technology. This transition might enable noninvasive screening for early diagnosis, individualized prediction of therapeutic response, and discovery of additional novel drug targets.Andrea AngiusAntonio Mario ScanuCaterina ArruMaria Rosaria MuroniCiriaco CarruAlberto PorcuPaolo Cossu-RoccaMaria Rosaria De MiglioMDPI AGarticlecolorectal carcinomaintratumor heterogeneitysingle-cell next-generation sequencingprecision medicineMedicine (General)R5-920ENMedicina, Vol 57, Iss 1257, p 1257 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	colorectal carcinoma intratumor heterogeneity single-cell next-generation sequencing precision medicine Medicine (General) R5-920
spellingShingle	colorectal carcinoma intratumor heterogeneity single-cell next-generation sequencing precision medicine Medicine (General) R5-920 Andrea Angius Antonio Mario Scanu Caterina Arru Maria Rosaria Muroni Ciriaco Carru Alberto Porcu Paolo Cossu-Rocca Maria Rosaria De Miglio A Portrait of Intratumoral Genomic and Transcriptomic Heterogeneity at Single-Cell Level in Colorectal Cancer
description	In the study of cancer, omics technologies are supporting the transition from traditional clinical approaches to precision medicine. Intra-tumoral heterogeneity (ITH) is detectable within a single tumor in which cancer cell subpopulations with different genome features coexist in a patient in different tumor areas or may evolve/differ over time. Colorectal carcinoma (CRC) is characterized by heterogeneous features involving genomic, epigenomic, and transcriptomic alterations. The study of ITH is a promising new frontier to lay the foundation towards successful CRC diagnosis and treatment. Genome and transcriptome sequencing together with editing technologies are revolutionizing biomedical research, representing the most promising tools for overcoming unmet clinical and research challenges. Rapid advances in both bulk and single-cell next-generation sequencing (NGS) are identifying primary and metastatic intratumoral genomic and transcriptional heterogeneity. They provide critical insight in the origin and spatiotemporal evolution of genomic clones responsible for early and late therapeutic resistance and relapse. Single-cell technologies can be used to define subpopulations within a known cell type by searching for differential gene expression within the cell population of interest and/or effectively isolating signal from rare cell populations that would not be detectable by other methods. Each single-cell sequencing analysis is driven by clustering of cells based on their differentially expressed genes. Genes that drive clustering can be used as unique markers for a specific cell population. In this review we analyzed, starting from published data, the possible achievement of a transition from clinical CRC research to precision medicine with an emphasis on new single-cell based techniques; at the same time, we focused on all approaches and issues related to this promising technology. This transition might enable noninvasive screening for early diagnosis, individualized prediction of therapeutic response, and discovery of additional novel drug targets.
format	article
author	Andrea Angius Antonio Mario Scanu Caterina Arru Maria Rosaria Muroni Ciriaco Carru Alberto Porcu Paolo Cossu-Rocca Maria Rosaria De Miglio
author_facet	Andrea Angius Antonio Mario Scanu Caterina Arru Maria Rosaria Muroni Ciriaco Carru Alberto Porcu Paolo Cossu-Rocca Maria Rosaria De Miglio
author_sort	Andrea Angius
title	A Portrait of Intratumoral Genomic and Transcriptomic Heterogeneity at Single-Cell Level in Colorectal Cancer
title_short	A Portrait of Intratumoral Genomic and Transcriptomic Heterogeneity at Single-Cell Level in Colorectal Cancer
title_full	A Portrait of Intratumoral Genomic and Transcriptomic Heterogeneity at Single-Cell Level in Colorectal Cancer
title_fullStr	A Portrait of Intratumoral Genomic and Transcriptomic Heterogeneity at Single-Cell Level in Colorectal Cancer
title_full_unstemmed	A Portrait of Intratumoral Genomic and Transcriptomic Heterogeneity at Single-Cell Level in Colorectal Cancer
title_sort	portrait of intratumoral genomic and transcriptomic heterogeneity at single-cell level in colorectal cancer
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/ea6821f704194917a70835626122bcde
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A Portrait of Intratumoral Genomic and Transcriptomic Heterogeneity at Single-Cell Level in Colorectal Cancer

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