PIK3CA gene is frequently mutated in patients with breast cancer and it has been the
focus of intense research. Inhibitors of PI3K pathway are being evaluated in ongoing
clinical trials but the impact of PIKC3A mutation status on tumor response is yet
uncertain. In the metastatic setting, several studies are evaluating the predictive
value of PIK3CA mutations. However, results could be biased by biopsy localization.
Digital polymerase chain reaction is a new technology that enables detection and quantification
of cancer DNA molecules from peripheral blood and can potentially overcome such situation.
As a proof of the concept, we present the case of a metastatic patient with a PIK3CA
wild-type primary tumor in which the PIK3CA E545K mutation was identified in both
the circulating-free DNA obtained from a peripheral blood sample and in the formalin-fixed,
paraffin-embedded liver metastasis.
Abbreviations:
cfDNA (circulating-free DNA), dPCR (digital polymerase chain reaction), ER (estrogen receptor), PR (progesterone receptor), wt (wild-type)To read this article in full you will need to make a payment
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Article info
Publication history
Published online: April 27, 2015
Accepted:
April 19,
2015
Received in revised form:
April 15,
2015
Received:
February 20,
2015
Identification
Copyright
© 2015 Elsevier Inc. Published by Elsevier Inc. All rights reserved.
