Prevalence of altered mismatch repair protein nuclear expression detected by immunohistochemistry on adenomas with high-grade dysplasia and features associated with this risk in a population-based study

Basterra, Marta; Gómez, Marta; Mercado, María del Rosario; Irisarri, Rebeca; Amorena, Edurne; Arrospide, Arantzazu; Montes, Marta; Aisa, Gregorio; Cambra, Koldo; Urmán, Jesús

doi:10.1016/j.gastre.2016.07.005

Cited by 2 publications

(4 citation statements)

References 20 publications

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“…Notably, some dMMR/MSI cases in the unselected cohort may be as yet undetected LS patients, because not all cases were followed-up with genetic testing. This is also suggested in some of the included papers [26,34,44,48] and suggests that our calculation for specificity is a modest underestimation. While dMMR/MSI in adenomas is a powerful LS marker, its utility in detecting novel patients is limited by the absence of MSI in 30.5% of adenomas in LS patients in combination with the relative low frequency of undetected LS patients.…”

Section: Discussionsupporting

confidence: 60%

“…In the unselected group, there was no difference between the smaller and larger adenomas (cut-off of 5 mm: RR 0.4, 95% CI 0.1-1.1, cut-off of 10 mm: RR 0.4, 95% CI 0.1-0.9) [17,24,44,49].…”

Section: Size Of Adenomasmentioning

confidence: 87%

“…In the unselected group, 11% of the proximal adenomas and 5% of the distal adenomas, dMMR/MSI was observed (RR 2.4, 95% CI 1.2-4.6) without heterogeneity (I 2 = 0%) [9,17,24,44,47,49,52].…”

Section: Location Of Adenomasmentioning

confidence: 92%

“…In the unselected group, 5% of adenomas with high grade dysplasia (11 out of 212) showed dMMR/MSI; while 8% of adenomas with low grade dysplasia (10 out of 130) showed dMMR/MSI [27,30,39,44,49,53,55].…”

Section: Grade Of Adenomasmentioning

confidence: 94%

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Microsatellite instability screening in colorectal adenomas to detect Lynch syndrome patients? A systematic review and meta-analysis

et al. 2019

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The colorectal cancer spectrum has changed due to population screening programs, with a shift toward adenomas and early cancers. Whether it would be a feasible option to test these adenomas for detection of Lynch syndrome (LS) patients is unclear. Through meta-analysis and systematic review, risk factors for DNA mismatch repair deficiency (dMMR) and microsatellite instability (MSI) in adenomas were identified in LS and unselected patient cohorts. Data were extracted for patient age and MMR variant together with adenoma type, grade, size, and location. A total of 41 studies were included, and contained more than 519 LS patients and 1698 unselected patients with 1142 and 2213 adenomas respectively. dMMR/MSI was present in 69.5% of conventional adenomas in LS patients, compared with 2.8% in unselected patients. In the LS cohort, dMMR/MSI was more frequently present in patients older than 60 years (82% versus 54%). dMMR/MSI was also more common in villous adenomas (84%), adenomas over 1 cm (81%), and adenomas with high grade dysplasia (88%). No significant differences were observed for dMMR/MSI in relation to MMR variants and location of adenomas. In the context of screening, we conclude that detection of dMMR/MSI in conventional adenomas of unselected patients is uncommon and might be considered as indication for LS testing. Within the LS cohort, 69.5% of LS patients could have been detected through dMMR/MSI screening of their conventional adenomas.

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Section: Discussionsupporting

confidence: 60%

“…In the unselected group, there was no difference between the smaller and larger adenomas (cut-off of 5 mm: RR 0.4, 95% CI 0.1-1.1, cut-off of 10 mm: RR 0.4, 95% CI 0.1-0.9) [17,24,44,49].…”

Section: Size Of Adenomasmentioning

confidence: 87%

“…In the unselected group, 11% of the proximal adenomas and 5% of the distal adenomas, dMMR/MSI was observed (RR 2.4, 95% CI 1.2-4.6) without heterogeneity (I 2 = 0%) [9,17,24,44,47,49,52].…”

Section: Location Of Adenomasmentioning

confidence: 92%

Section: Grade Of Adenomasmentioning

confidence: 94%

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Microsatellite instability screening in colorectal adenomas to detect Lynch syndrome patients? A systematic review and meta-analysis

et al. 2019

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

Cuatrecasas

Gorostiaga

Riera

et al. 2020

Cancers

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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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Prevalence of altered mismatch repair protein nuclear expression detected by immunohistochemistry on adenomas with high-grade dysplasia and features associated with this risk in a population-based study

Cited by 2 publications

References 20 publications

Microsatellite instability screening in colorectal adenomas to detect Lynch syndrome patients? A systematic review and meta-analysis

Microsatellite instability screening in colorectal adenomas to detect Lynch syndrome patients? A systematic review and meta-analysis

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

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