Microsatellite instability (MSI) is present in 15-20% of primary colorectal cancers. MSI status is assessed to detect Lynch syndrome, guide adjuvant chemotherapy, determine prognosis, and use as a companion test for checkpoint blockade inhibitors. Traditionally, MSI status is determined by immunohistochemistry or molecular methods. The Idylla™ MSI Assay is a fully automated molecular method (including automated result interpretation), using seven novel MSI biomarkers (ACVR2A, BTBD7, DIDO1, MRE11, RYR3, SEC31A, SULF2) and not requiring matched normal tissue. In this real-world global study, 44 clinical centers performed Idylla™ testing on a total of 1301 archived colorectal cancer formalin-fixed, paraffin-embedded (FFPE) tissue sections and compared Idylla™ results against available results from routine diagnostic testing in those sites. MSI mutations detected with the Idylla™ MSI Assay were equally distributed over the seven biomarkers, and 84.48% of the MSI-high samples had ≥ 5 mutated biomarkers, while 98.25% of the microsatellite-stable samples had zero mutated biomarkers. The concordance level between the Idylla™ MSI Assay and immunohistochemistry was 96.39% (988/1025); 17/37 discordant samples were found to be concordant when a third method was used. Compared with routine molecular methods, the concordance level was 98.01% (789/805); third-method analysis found concordance for 8/16 discordant samples. The failure rate of the Idylla™ MSI Assay (0.23%; 3/1301) was lower than that of referenced immunohistochemistry (4.37%; 47/1075) or molecular assays (0.86%; 7/812). In conclusion, lower failure rates and high concordance levels were found between the Idylla™ MSI Assay and routine tests.
- MeSH
- fixace tkání * MeSH
- fixativa MeSH
- formaldehyd MeSH
- imunohistochemie * MeSH
- kolorektální nádory chemie genetika patologie MeSH
- laboratorní automatizace MeSH
- lidé MeSH
- mikrosatelitní nestabilita * MeSH
- mutace * MeSH
- mutační analýza DNA * MeSH
- nádorové biomarkery * analýza genetika MeSH
- prediktivní hodnota testů MeSH
- reprodukovatelnost výsledků MeSH
- zalévání tkání do parafínu * MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
- srovnávací studie MeSH
- Klíčová slova
- crizotinib, gen ALK,
- MeSH
- analýza přežití MeSH
- dospělí MeSH
- inhibitory proteinkinas * škodlivé účinky terapeutické užití MeSH
- krizotinib MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádory plic * genetika farmakoterapie mortalita MeSH
- nemalobuněčný karcinom plic * genetika farmakoterapie mortalita MeSH
- pyrazoly škodlivé účinky terapeutické užití MeSH
- pyridiny škodlivé účinky terapeutické užití MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- tyrosinkinasové receptory * analýza antagonisté a inhibitory MeSH
- výsledek terapie MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- klinické zkoušky, fáze I MeSH
- práce podpořená grantem MeSH
