MSI/IHC and PREMM5 screen for Lynch syndrome-related colorectal and endometrial cancer

According to reports such as Mannucci of the San Rafael Institute of Science in Italy, MSI/IHC and PREMM5 are effective in identifying patients with LS colorectal cancer (CRC) and/or endometrial cancer (EC), although microsatellite instability and/or misalmutation repair defects (MSI/IHC) are more specific to Lynch syndrome (LS).
Because PREMM5 can identify non-LS and high exoded disease pathogenic mutations (PVs), multi-genome testing should be provided for CRC and/or EC patients with PREMM5 ratings of ≥2.5% (including normal MSI/IHC patients).
(J Clin Oncol. doi:10.1200/JCO.20.01470) for MSI/IHC tumor testing and clinical prediction models can effectively screen LS-related CRCs and EC, but their ability to identify non-LS-form genetic risks has not yet been evaluated.
the purpose of the study was to compare MSI/IHC and PREMM5 pre-test models to identify carriers of LS and non-LS PV in CRC and EC patients.
researchers reviewed data from two single agency queues, with 706 CRC and/or EC patients genetically evaluated/tested (high-risk queues);
all participants were tested for multiple genes.
preMM5 score is based on an individual/family cancer history.
result is the proportion of individuals with MSI/IHC test exceptions and/or PREMM5 scores ≥ 2.5% of the species PV (LS PV, high exopresum PV and any PV).
MSI/IHC and PREMM5 in identifying high risk (89.3% vs. 85.7%, P-0.712) and oncology clinical patients (96.6% vs.96.6%, P-1.000) are fairly sensitive to LS carriers, although MSI/IHC is significantly more specific to LS (81.3% vs. vs. 20.1%, P.lt;0.001;92.3% vs. 24.3%, P.lt;0.001).
in both columns, PREMM5 is highly sensitive to MSI/IHC and can identify PVs with high exodus rates, as well as any patients with low, medium, and high exodus rates.
in normal MSI/IHC patients, PREMM5 identified 84.2% and 83.3% of high exoneration PV patients in high-risk CRC/EC patients and oncology clinic CRC patients, respectively.
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