A PIK3CA mutation detected in plasma from a patient with synchronous primary breast and lung cancers

Hum Pathol. 2014 Apr;45(4):880-3. doi: 10.1016/j.humpath.2013.10.016. Epub 2013 Oct 31.

Abstract

Digital polymerase chain reaction is a new technology that enables detection and quantification of cancer DNA molecules from peripheral blood. Using this technique, we identified mutant PIK3CA DNA in circulating ptDNA (plasma tumor DNA) from a patient with concurrent early stage breast cancer and non-small cell lung cancer. The patient underwent successful resection of both her breast and lung cancers, and using standard Sanger sequencing the breast cancer was shown to harbor the identical PIK3CA mutation identified in peripheral blood. This case report highlights potential applications and concerns that can arise with the use of ptDNA in clinical oncology practice.

Keywords: Breast cancer; Digital PCR; Lung cancer; PIK3CA; Plasma tumor DNA.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Base Sequence
  • Breast Neoplasms / blood
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / pathology
  • Carcinoma, Non-Small-Cell Lung / genetics
  • Class I Phosphatidylinositol 3-Kinases
  • DNA, Neoplasm / blood*
  • DNA, Neoplasm / genetics
  • Female
  • Humans
  • Lung Neoplasms / blood
  • Lung Neoplasms / genetics*
  • Lung Neoplasms / pathology
  • Mutation*
  • Neoplasms, Multiple Primary / blood
  • Neoplasms, Multiple Primary / genetics*
  • Neoplasms, Multiple Primary / pathology
  • Phosphatidylinositol 3-Kinases / blood
  • Phosphatidylinositol 3-Kinases / genetics*
  • Polymerase Chain Reaction / methods*

Substances

  • DNA, Neoplasm
  • Phosphatidylinositol 3-Kinases
  • Class I Phosphatidylinositol 3-Kinases
  • PIK3CA protein, human