Morphological predictors for microsatellite instability in urothelial carcinoma

Abstract Introduction Microsatellite instability occurs due to a series of mutations in the DNA pairing error repair (Mismatch repair; MMR) genes, which can affect germ cells as occurs in Lynch syndrome, whose patients are at high risk of developing multiple cancers. The loss of MMR protein is commo...

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Autores principales:	Eduardo Sobrino-Reig, Telma Meizoso, Jesús García, David Varillas-Delgado, Yasmina B. Martin
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Cancer Mismatch repair Immunohistochemistry Screening protocol Tissue microarray Pathology RB1-214
Acceso en línea:	https://doaj.org/article/118057f17c734cdd8ee5a47fa694aea4
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spelling	oai:doaj.org-article:118057f17c734cdd8ee5a47fa694aea42021-11-21T12:39:42ZMorphological predictors for microsatellite instability in urothelial carcinoma10.1186/s13000-021-01168-21746-1596https://doaj.org/article/118057f17c734cdd8ee5a47fa694aea42021-11-01T00:00:00Zhttps://doi.org/10.1186/s13000-021-01168-2https://doaj.org/toc/1746-1596Abstract Introduction Microsatellite instability occurs due to a series of mutations in the DNA pairing error repair (Mismatch repair; MMR) genes, which can affect germ cells as occurs in Lynch syndrome, whose patients are at high risk of developing multiple cancers. The loss of MMR protein is commonly determined by immunohistochemical studies. Although the relation between microsatellite instability and urothelial carcinomas has been widely studied, its evaluation is not currently performed in the analysis of urothelial carcinomas. Methods In this study, the microsatellite status of 139 urothelial carcinomas was analyzed and their clinicopathological characteristics were evaluated. We identified that 10.3% (13 patients) of urothelial carcinomas had loss of MMR protein expression (9 MLH1; 5 MSH2; 2 PMS2; 2 PSH6; n = 139). Results Results suggest that these tumors occur more frequently in males, are more frequently located in the bladder or ureters, and present a high tumor grade with a papillary histological pattern that does not infiltrate the lamina propria or, in the case of infiltrating tumors, that grows into perivesical tissues. Conclusions We identified patients with the aforementioned tumor characteristics as patients with a high probability of presenting loss of MMR protein expression, and consider that only these patients should undergo further immunohistochemical and molecular techniques for proper diagnosis. Therefore, we propose that the clinicopathological characteristics found in the present study could become possible markers to determine which cases should undergo additional tests.Eduardo Sobrino-ReigTelma MeizosoJesús GarcíaDavid Varillas-DelgadoYasmina B. MartinBMCarticleCancerMismatch repairImmunohistochemistryScreening protocolTissue microarrayPathologyRB1-214ENDiagnostic Pathology, Vol 16, Iss 1, Pp 1-10 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Cancer Mismatch repair Immunohistochemistry Screening protocol Tissue microarray Pathology RB1-214
spellingShingle	Cancer Mismatch repair Immunohistochemistry Screening protocol Tissue microarray Pathology RB1-214 Eduardo Sobrino-Reig Telma Meizoso Jesús García David Varillas-Delgado Yasmina B. Martin Morphological predictors for microsatellite instability in urothelial carcinoma
description	Abstract Introduction Microsatellite instability occurs due to a series of mutations in the DNA pairing error repair (Mismatch repair; MMR) genes, which can affect germ cells as occurs in Lynch syndrome, whose patients are at high risk of developing multiple cancers. The loss of MMR protein is commonly determined by immunohistochemical studies. Although the relation between microsatellite instability and urothelial carcinomas has been widely studied, its evaluation is not currently performed in the analysis of urothelial carcinomas. Methods In this study, the microsatellite status of 139 urothelial carcinomas was analyzed and their clinicopathological characteristics were evaluated. We identified that 10.3% (13 patients) of urothelial carcinomas had loss of MMR protein expression (9 MLH1; 5 MSH2; 2 PMS2; 2 PSH6; n = 139). Results Results suggest that these tumors occur more frequently in males, are more frequently located in the bladder or ureters, and present a high tumor grade with a papillary histological pattern that does not infiltrate the lamina propria or, in the case of infiltrating tumors, that grows into perivesical tissues. Conclusions We identified patients with the aforementioned tumor characteristics as patients with a high probability of presenting loss of MMR protein expression, and consider that only these patients should undergo further immunohistochemical and molecular techniques for proper diagnosis. Therefore, we propose that the clinicopathological characteristics found in the present study could become possible markers to determine which cases should undergo additional tests.
format	article
author	Eduardo Sobrino-Reig Telma Meizoso Jesús García David Varillas-Delgado Yasmina B. Martin
author_facet	Eduardo Sobrino-Reig Telma Meizoso Jesús García David Varillas-Delgado Yasmina B. Martin
author_sort	Eduardo Sobrino-Reig
title	Morphological predictors for microsatellite instability in urothelial carcinoma
title_short	Morphological predictors for microsatellite instability in urothelial carcinoma
title_full	Morphological predictors for microsatellite instability in urothelial carcinoma
title_fullStr	Morphological predictors for microsatellite instability in urothelial carcinoma
title_full_unstemmed	Morphological predictors for microsatellite instability in urothelial carcinoma
title_sort	morphological predictors for microsatellite instability in urothelial carcinoma
publisher	BMC
publishDate	2021
url	https://doaj.org/article/118057f17c734cdd8ee5a47fa694aea4
work_keys_str_mv	AT eduardosobrinoreig morphologicalpredictorsformicrosatelliteinstabilityinurothelialcarcinoma AT telmameizoso morphologicalpredictorsformicrosatelliteinstabilityinurothelialcarcinoma AT jesusgarcia morphologicalpredictorsformicrosatelliteinstabilityinurothelialcarcinoma AT davidvarillasdelgado morphologicalpredictorsformicrosatelliteinstabilityinurothelialcarcinoma AT yasminabmartin morphologicalpredictorsformicrosatelliteinstabilityinurothelialcarcinoma
_version_	1718418867215138816

Morphological predictors for microsatellite instability in urothelial carcinoma

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