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Title: Complete Loss of EPCAM Immunoexpression Identifies EPCAM Deletion Carriers in MSH2-Negative Colorectal Neoplasia
Author: Cuatrecasas Freixas, Miriam
Gorostiaga, Iñigo
Riera, Cristina
Saperas, Esteban
Llort, Gemma
Costa, Irmgard
Matias-Guiu, Xavier
Carrato, Cristina
Navarro, Matilde
Pineda Riu, Marta
Dueñas, Nuria
Brunet, Joan
Marco, Vicente
Trias, Isabel
Busteros, José Ignacio
Mateu, Gemma
Balaguer Prunés, Francesc
Fernández Figueras, María Teresa
Esteller, Manel
Musulén, Eva
Keywords: Càncer colorectal
Malalties del còlon
Pòlips (Patologia)
Colorectal cancer
Colonic diseases
Polyps (Pathology)
Issue Date: 29-Sep-2020
Publisher: MDPI
Abstract: The 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.
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It is part of: Cancers, 2020, vol. 12(10), num. 2803
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ISSN: 2072-6694
Appears in Collections:Articles publicats en revistes (Ciències Fisiològiques)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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