A clinico-pathological and molecular analysis reveals differences between solitary (early and late-onset) and synchronous rectal cancer

Abstract Rectal cancer (RC) appears to behave differently compared with colon cancer. We aimed to analyze existence of different subtypes of RC depending on distinct features (age of onset and the presence of synchronous primary malignant neoplasms). We compared the clinicopathological, familial and...

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Autores principales:	José Perea, Juan L. García, Luis Corchete, Sandra Tapial, Susana Olmedillas-López, Alfredo Vivas, Damián García-Olmo, Miguel Urioste, Ajay Goel, Rogelio González-Sarmiento
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/3db01473c8cc492fa5f9f52c6632c84d
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spelling	oai:doaj.org-article:3db01473c8cc492fa5f9f52c6632c84d2021-12-02T14:16:07ZA clinico-pathological and molecular analysis reveals differences between solitary (early and late-onset) and synchronous rectal cancer10.1038/s41598-020-79118-z2045-2322https://doaj.org/article/3db01473c8cc492fa5f9f52c6632c84d2021-01-01T00:00:00Zhttps://doi.org/10.1038/s41598-020-79118-zhttps://doaj.org/toc/2045-2322Abstract Rectal cancer (RC) appears to behave differently compared with colon cancer. We aimed to analyze existence of different subtypes of RC depending on distinct features (age of onset and the presence of synchronous primary malignant neoplasms). We compared the clinicopathological, familial and molecular features of three different populations diagnosed with RC (early-onset RC [EORC], late-onset RC, and synchronous RC [SRC]). Eighty-five RCs were identified and were evaluated according to their microsatellite instability, CpG Island Methylator Phenotype (CIMP) and chromosomal instability, as assessed by Next Generation Sequencing and microarray-based comparative genomic hybridization approaches. The results were subjected to cluster analysis. SRCs displayed the most specific characteristics including a trend for the development of multiple malignant neoplasms, a greater proportion of CIMP-High tumors (75%) and more frequent genomic alterations. These findings were confirmed by a clustering analysis that stratified RCs according to their genomic alterations. We also found that EORCs exhibited their own features including an important familial cancer component and a remarkable rate of mutations in TP53 (53%). Together, heterogeneity in RC characteristics by age of disease-onset and SRC warrants further study to optimize tailored prevention, detection and intervention strategies—particularly among young adults.José PereaJuan L. GarcíaLuis CorcheteSandra TapialSusana Olmedillas-LópezAlfredo VivasDamián García-OlmoMiguel UriosteAjay GoelRogelio González-SarmientoNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q José Perea Juan L. García Luis Corchete Sandra Tapial Susana Olmedillas-López Alfredo Vivas Damián García-Olmo Miguel Urioste Ajay Goel Rogelio González-Sarmiento A clinico-pathological and molecular analysis reveals differences between solitary (early and late-onset) and synchronous rectal cancer
description	Abstract Rectal cancer (RC) appears to behave differently compared with colon cancer. We aimed to analyze existence of different subtypes of RC depending on distinct features (age of onset and the presence of synchronous primary malignant neoplasms). We compared the clinicopathological, familial and molecular features of three different populations diagnosed with RC (early-onset RC [EORC], late-onset RC, and synchronous RC [SRC]). Eighty-five RCs were identified and were evaluated according to their microsatellite instability, CpG Island Methylator Phenotype (CIMP) and chromosomal instability, as assessed by Next Generation Sequencing and microarray-based comparative genomic hybridization approaches. The results were subjected to cluster analysis. SRCs displayed the most specific characteristics including a trend for the development of multiple malignant neoplasms, a greater proportion of CIMP-High tumors (75%) and more frequent genomic alterations. These findings were confirmed by a clustering analysis that stratified RCs according to their genomic alterations. We also found that EORCs exhibited their own features including an important familial cancer component and a remarkable rate of mutations in TP53 (53%). Together, heterogeneity in RC characteristics by age of disease-onset and SRC warrants further study to optimize tailored prevention, detection and intervention strategies—particularly among young adults.
format	article
author	José Perea Juan L. García Luis Corchete Sandra Tapial Susana Olmedillas-López Alfredo Vivas Damián García-Olmo Miguel Urioste Ajay Goel Rogelio González-Sarmiento
author_facet	José Perea Juan L. García Luis Corchete Sandra Tapial Susana Olmedillas-López Alfredo Vivas Damián García-Olmo Miguel Urioste Ajay Goel Rogelio González-Sarmiento
author_sort	José Perea
title	A clinico-pathological and molecular analysis reveals differences between solitary (early and late-onset) and synchronous rectal cancer
title_short	A clinico-pathological and molecular analysis reveals differences between solitary (early and late-onset) and synchronous rectal cancer
title_full	A clinico-pathological and molecular analysis reveals differences between solitary (early and late-onset) and synchronous rectal cancer
title_fullStr	A clinico-pathological and molecular analysis reveals differences between solitary (early and late-onset) and synchronous rectal cancer
title_full_unstemmed	A clinico-pathological and molecular analysis reveals differences between solitary (early and late-onset) and synchronous rectal cancer
title_sort	clinico-pathological and molecular analysis reveals differences between solitary (early and late-onset) and synchronous rectal cancer
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/3db01473c8cc492fa5f9f52c6632c84d
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A clinico-pathological and molecular analysis reveals differences between solitary (early and late-onset) and synchronous rectal cancer

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