Complete loss of epcam immunoexpression identifies epcam deletion carriers in msh2negative colorectal neoplasia

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 analysi...

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Detalles Bibliográficos
Autores: Cuatrecasas, Miriam|||0000-0003-3063-0110, Gorostiaga, Iñigo|||0000-0003-0359-9963, Riera, Cristina|||0000-0002-3522-5598, Saperas, Esteban, Llort, Gemma|||0000-0001-9987-7862, Costa, Irmgard|||0000-0001-5760-8293, Matías-Guiu, Xavier|||0000-0002-7201-6605, Carrato, Cristina|||0000-0002-1953-8287, Navarro, Matilde Y., Pineda, Marta|||0000-0002-5403-5845, Dueñas Cid, Nuria|||0000-0001-6624-3265, Brunet, Joan|||0000-0003-1945-3512, Marco-Molina, Vicente, Trias, Isabel|||0000-0001-9841-4380, Busteros-Moraza, José Ignacio, Mateu, Gemma, Balaguer, Francesc|||0000-0002-0206-0539, Fernández-Figueras, Maria Teresa|||0000-0002-2366-7110, Esteller, M.|||0000-0003-4490-6093, Musulén, Eva|||0000-0002-9667-6464
Tipo de recurso: artículo
Fecha de publicación:2020
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:236582
Acceso en línea:https://ddd.uab.cat/record/236582
https://dx.doi.org/urn:doi:10.3390/cancers12102803
Access Level:acceso abierto
Palabra clave:Lynch syndrome
EPCAM
Immunohistochemistry
Colorectal cancer VColon polyps
Descripción
Sumario: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.