Complete Loss of EPCAM Immunoexpression Identifies EPCAM Deletion Carriers in MSH2-Negative Colorectal Neoplasia

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dc.contributor.authorCuatrecasas, Miriam
dc.contributor.authorGorostiaga, Iñigo
dc.contributor.authorRiera, Cristina
dc.contributor.authorSaperas, Esteban
dc.contributor.authorLlort, Gemma
dc.contributor.authorCosta, Irmgard
dc.contributor.authorMatias-Guiu, Xavier
dc.contributor.authorCarrato, Cristina
dc.contributor.authorNavarro, Matilde
dc.contributor.authorPineda, Marta
dc.contributor.authorDueñas, Núria
dc.contributor.authorBrunet, Joan
dc.contributor.authorMarco, Vicente
dc.contributor.authorTrias, Isabel
dc.contributor.authorBusteros, José Ignacio
dc.contributor.authorMateu, Gemma
dc.contributor.authorBalaguer, Francesc
dc.contributor.authorFernández Figueras, María Teresa
dc.contributor.authorEsteller, Manel
dc.contributor.authorMusulén, Eva
dc.date.accessioned2022-01-26T12:34:34Z
dc.date.available2022-01-26T12:34:34Z
dc.date.issued2020
dc.description.abstractThe use of epithelial cell adhesion molecule (EPCAM) immunohistochemistry (IHC) is not included in the colorectal cancer (CRC) screening algorithm to detect Lynch syndrome (LS) patients. The aim of the present study was to demonstrate that EPCAM IHC is a useful tool to guide the LS germ-line analysis when a loss of MSH2 expression was present. We retrospectively studied MSH2 and EPCAM IHC in a large series of 190 lesions composed of malignant neoplasms (102), precursor lesions of gastrointestinal (71) and extra-gastrointestinal origin (9), and benign neoplasms (8) from different organs of 71 patients suspicious of being LS due to MSH2 alterations. LS was confirmed in 68 patients, 53 with MSH2 mutations and 15 with EPCAM 3'-end deletions. Tissue microarrays were constructed with human normal tissues and their malignant counterparts to assist in the evaluation of EPCAM staining. Among 154 MSH2-negative lesions, 17 were EPCAM-negative, including 10 CRC and 7 colorectal polyps, and 5 of them showed only isolated negative glands. All lesions showing a lack of EPCAM expression belonged to patients with EPCAM 3'-end deletions. EPCAM IHC is a useful screening tool, with 100% specificity to identify LS patients due to EPCAM 3'-end deletions in MSH2-negative CRC and MSH2-negative colorectal polyps.ca_ES
dc.description.sponsorshipThis study was funded by the 2018 Research Project Award to E.M., promoted by the HospitalUniversitari General Catalunya-Grupo Quirónsalud; Instituto de Salud Carlos III (grant PI17/01304 to M.C. andgrants PI16/00766 and PI19/01867 to F.B., co-funded by ERDF/ESF, “A way to make Europe”/”Investing in yourfuture”); and Agència de Gestiód’Ajuts Universitaris i de Recerca (2017SGR653 and 2017 SGR 1035). CIBERehdwas funded by the Instituto de Salud Carlos IIIca_ES
dc.identifier.doihttps://doi.org/10.3390/cancers12102803
dc.identifier.issn2072-6694
dc.identifier.urihttp://hdl.handle.net/10459.1/72831
dc.language.isoengca_ES
dc.publisherMDPIca_ES
dc.relation.isformatofReproducció del document publicat a: https://doi.org/10.3390/cancers12102803ca_ES
dc.relation.ispartofCancers, 2020, vol, 12, núm. 10ca_ES
dc.rightscc-by (c)authors, 2020ca_ES
dc.rights.accessRightsinfo:eu-repo/semantics/openAccessca_ES
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.subjectEPCAMca_ES
dc.subjectColon polypsca_ES
dc.subjectColorectal cancerca_ES
dc.subjectImmunohistochemistryca_ES
dc.subjectLynch syndromeca_ES
dc.titleComplete Loss of EPCAM Immunoexpression Identifies EPCAM Deletion Carriers in MSH2-Negative Colorectal Neoplasiaca_ES
dc.typeinfo:eu-repo/semantics/articleca_ES
dc.type.versioninfo:eu-repo/semantics/publishedVersionca_ES
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