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

Overview

Journal Cancers (Basel)

Publisher MDPI

Specialty Oncology

Date 2020 Oct 2

PMID 33003511

Citations 3

Authors

Miriam Cuatrecasas

Inigo Gorostiaga

Cristina Riera

Esteban Saperas

Gemma Llort

Irmgard Costa

Xavier Matias-Guiu

Cristina Carrato

Matilde Navarro

Marta Pineda

Nuria Duenas

Joan Brunet

Vicente Marco

Isabel Trias

Jose Ignacio Busteros

Gemma Mateu

Francesc Balaguer

Maria-Teresa Fernandez-Figueras

Manel Esteller

Eva Musulen

Affiliations

Soon will be listed here.

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 alterations. LS was confirmed in 68 patients, 53 with mutations and 15 with 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 3'-end deletions. EPCAM IHC is a useful screening tool, with 100% specificity to identify LS patients due to 3'-end deletions in MSH2-negative CRC and MSH2-negative colorectal polyps.

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