What’s New Liquid Biopsy – PIK3CA-Testung beim Mammakarzinom

What’s new liquid biopsy—PIK3CA testing in breast cancer

Zusammenfassung

Der Einsatz von Liquid Biopsies zur Untersuchung von molekularen Veränderungen an zirkulierender Tumor DNA (ctDNA) für die Companion-Diagnostik hat in den letzten Jahren an Bedeutung gewonnen. PIK3CA zählt zu den am häufigsten mutierten Genen in Brustkrebspatientinnen. Die auch in Europa erwartete Zulassung des PIK3CA-Inhibitors Alpelisib mittels Liquid Biopsies infolge der Ergebnisse der SOLAR1-Studie ist daher eine vielversprechende Möglichkeit, dass mehr Brustkrebspatientinnen von einer zielgerichteten Therapie profitieren können. Es ist demnach anzunehmen, dass es eine Erstattung für die PIK3CA-Mutationstestung auf Basis von Liquid Biopsies geben wird.

Die Auswahl eines geeigneten Testverfahrens für den Nachweis der aktivierenden PIK3CA-Mutationen sollte Faktoren wie Sensitivität, Spezifität und Detektionslimit miteinbeziehen, wobei mindestens die Kriterien des Tests aus der Zulassungsstudie erfüllt werden sollten.

Der PIK3CA-Mutationsnachweis mittels Liquid Biopsy kann dann, bei wohlüberlegtem Einsatz, eine sinnvolle Ergänzung in der molekularpathologischen Diagnostik an Gewebe sein.

Abstract

The impact of liquid biopsies on the analysis of molecular alterations of circulating tumor DNA (ctDNA) has recently increased. PIK3CA is one of the most frequently mutated genes in breast cancer and the expected approval of targeted PIK3CA therapy based on the results of the SOLAR1 trial is likely to lead to the use of liquid biopsies as another promising testing strategy in breast cancer patients who can benefit from a targeted therapy.

Choosing an appropriate method for the detection of activating PIK3CA mutations should include factors like sensitivity, specificity, and limit of detection. The test should at least meet the parameters of the assay used in the drug approval study.

If carefully used, PIK3CA mutation detection with liquid biopsies can then be a useful addition to standard tissue diagnostics.

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Correspondence to Dr. Claudia Vollbrecht.

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Vollbrecht, C. What’s New Liquid Biopsy – PIK3CA-Testung beim Mammakarzinom. Pathologe 41, 138–142 (2020). https://doi.org/10.1007/s00292-020-00868-8

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Schlüsselwörter

  • Mutationsanalyse
  • Aktivierende Mutationen
  • Personalisierte Medizin
  • Parallelsequenzierung
  • Tumordiagnostik

Keywords

  • Mutation testing
  • Activating mutations
  • Personalized medicine
  • Parallele sequencing
  • Tumor diagnostics