TERTmonitor Efficacy and Performance in Detecting Mutations by Droplet Digital PCR

Area of Science:

• Oncology
• Molecular Diagnostics
• Genetics

Background:

• TERT promoter (TERTp) mutations are crucial biomarkers in cancer diagnostics, linked to tumor aggressiveness.
• TERTmonitor is a kit for detecting specific TERTP mutations (-124C>T and -146C>T) using real-time qPCR.
• These mutations are prevalent in various cancers, notably bladder carcinoma.

Purpose of the Study:

• To evaluate the performance of the TERTmonitor assay when adapted for droplet digital PCR (ddPCR).
• To compare ddPCR performance against real-time qPCR using urine samples from bladder cancer patients.

Main Methods:

• Analysis of 45 urine samples using both real-time qPCR and ddPCR.
• Direct comparison of TERTmonitor assay concordance and sensitivity between the two platforms.

Main Results:

• TERTmonitor demonstrated high concordance rates: 95.45% for -124C>T and 90% for -146C>T mutations.
• ddPCR exhibited superior sensitivity, detecting mutations missed by real-time qPCR in 4.55% (-124C>T) and 10% (-146C>T) of samples.
• Enhanced sensitivity of ddPCR was most notable for low-frequency mutations.

Conclusions:

• TERTmonitor is a versatile tool for cancer surveillance, effective on both real-time qPCR and ddPCR platforms.
• ddPCR offers improved sensitivity for detecting TERT promoter mutations in urine, particularly at low frequencies.
• These findings support the use of TERTmonitor in bladder cancer diagnostics and monitoring.