Discordance between immunochemistry of mismatch repair proteins and molecular testing of microsatellite instability in colorectal cancer
| Autor: | Audelaure Junca, Jean-François Fléjou, Eric Frouin, Alex Duval, J. Godet, S. Vignot, Lucie Karayan-Tapon, Florence Coulet, Pascale Cervera, Magali Svrcek, Violaine Randrian, David Tougeron, Gaëlle Tachon, Thierry André, Romain Cohen, A. Guyot D'Asnières De Salins, Olivier Lascols, Camille Evrard |
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| Přispěvatelé: | Centre hospitalier universitaire de Poitiers (CHU Poitiers), Laboratoire de neurosciences expérimentales et cliniques (LNEC), Université de Poitiers-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'Oncologie Médicale [CHU Saint-Antoine], CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Instabilité des microsatellites et cancers [CRSA], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Gestionnaire, Hal Sorbonne Université, Service d'Oncologie Médicale [CHU Saint -Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Centre de Recherche Saint-Antoine (CR Saint-Antoine), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint-Antoine [AP-HP], Instabilité des microsatellites et cancers [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint-Antoine [AP-HP] |
| Rok vydání: | 2021 |
| Předmět: |
Oncology
congenital hereditary and neonatal diseases and abnormalities Cancer Research medicine.medical_specialty deficient mismatch repair [SDV]Life Sciences [q-bio] Concordance colorectal cancer MLH1 DNA Mismatch Repair 03 medical and health sciences 0302 clinical medicine Internal medicine medicine PMS2 Humans molecular biology neoplasms 030304 developmental biology 0303 health sciences business.industry Immunochemistry Microsatellite instability medicine.disease digestive system diseases 3. Good health [SDV] Life Sciences [q-bio] MSH6 Molecular Diagnostic Techniques MSH2 030220 oncology & carcinogenesis immunohistochemistry Cohort microsatellite instability DNA mismatch repair Colorectal Neoplasms business |
| Zdroj: | ESMO Open ESMO Open, 2021, 6 (3), pp.100120. ⟨10.1016/j.esmoop.2021.100120⟩ ESMO Open, European Society for Medical Oncology, 2021, 6 (3), pp.100120. ⟨10.1016/j.esmoop.2021.100120⟩ |
| ISSN: | 2059-7029 |
| DOI: | 10.1016/j.esmoop.2021.100120 |
| Popis: | International audience; Background: DNA mismatch repair system deficiency (dMMR) is found in 15% of colorectal cancers (CRCs). Two methods are used to determine dMMR, immunohistochemistry (IHC) of MMR proteins and molecular testing of microsatellite instability (MSI). Only studies with a low number of patients have reported rates of discordance between these two methods, ranging from 1% to 10%.Materials and methods: Overall, 3228 consecutive patients with CRCs from two centers were included. Molecular testing was carried out using the Pentaplex panel and IHC evaluated four (MLH1, MSH2, MSH6, and PMS2; cohort 1; n = 1085) or two MMR proteins (MLH1 and MSH2; cohort 2; n = 2143). The primary endpoint was the rate of discordance between MSI and MMR IHC tests.Results: Fifty-one discordant cases (1.6%) were initially observed. Twenty-nine out of 51 discordant cases were related to IHC misclassifications. In cohort 1, after re-reading IHC and/or carrying out new IHC, 16 discordant cases were reclassified as nondiscordant. In cohort 2, after the addition of MSH6/PMS2 IHC and re-examination, 13 were reclassified as nondiscordant. In addition, 10 misclassifications of molecular tests were identified. Finally, only 12 discordant cases (0.4%) remained: 5 were proficient MMR/MSI and 7 were dMMR/microsatellite stable.Conclusions: Our study confirmed the high degree of concordance between MSI and MMR IHC tests. Discordant cases must be reviewed, and if needed, tests must be repeated and analyzed by an expert team. |
| Databáze: | OpenAIRE |
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