Direct comparison of an ultrasensitive real-time PCR assay with droplet digital PCR for the detection of PIK3CA hotspot mutations in primary tumors, plasma cell-free DNA and paired CTC-derived gDNAs
2024

Comparing PCR Methods for Detecting PIK3CA Mutations in Breast Cancer

Sample size: 81 publication 10 minutes Evidence: moderate

Author Information

Author(s): Smilkou Stavroula, Kaklamanis Loukas, Balgouranidou Ioanna, Linardou Helena, Papatheodoridi Alkistis Maria, Zagouri Flora, Razis Evangelia, Kakolyris Stylianos, Psyrri Amanda, Papadimitriou Christos, Markou Athina, Lianidou Evi

Primary Institution: University of Athens, Athens, Greece

Hypothesis

The study aims to compare the efficacy of an ultrasensitive real-time PCR assay with droplet digital PCR for detecting PIK3CA hotspot mutations.

Conclusion

The ultrasensitive real-time PCR assay provides accurate detection of PIK3CA hotspot mutations in liquid biopsy samples, yielding results similar to ddPCR.

Supporting Evidence

  • The ultrasensitive real-time PCR detected PIK3CA mutations in 52.4% of primary tumor samples.
  • Concordance rates between the two methods were high for most mutations.
  • CTC-derived gDNA showed higher mutation detection rates compared to plasma-cfDNA.

Takeaway

Researchers tested two methods to find cancer mutations in blood samples, and found that a cheaper method worked just as well as a more expensive one.

Methodology

The study analyzed 42 gDNAs from primary tumors, 29 plasma-cfDNA samples, and 29 paired CTC-derived gDNAs using both ultrasensitive real-time PCR and ddPCR.

Limitations

The limited number of clinical samples and healthy controls restricts the conclusions made.

Participant Demographics

Patients with ER+ metastatic breast cancer and 10 healthy donors.

Statistical Information

P-Value

p<0.001

Statistical Significance

p<0.001

Digital Object Identifier (DOI)

10.3389/fonc.2024.1435559

Want to read the original?

Access the complete publication on the publisher's website

View Original Publication