Liquid biopsy literature Research paper
Oxnard, G.R. et al. “Noninvasive detection of response and resistance in EGFR-mutant lung cancer using quantitative next-generation genotyping of cell-free plasma DNA”—Clin. Cancer Res. March 2014
Abdel-Wahab, O. et al. “Efficacy of intermittent combined RAF and MEK inhibition in a patient with concurrent BRAF- and NRAS-mutant malignancies”— Cancer Discov. March 2014
Beaver, J.A., et al. “Detection of cancer DNA in plasma of early stage breast cancer patients”—Clin. Cancer Res. Published online first Feb 6, 2014
Role of ddPCR
Demonstrates high sensitivity and 100% speci- ficity of ddPCR for tracking levels of known tumor mutations in cell-free DNA from lung cancer and melanoma patients.
This case study of a melanoma patient fore- shadows how new precision medicine tools like ddPCR will enable the monitoring and adjustment of patient therapy according to molecular responses in the blood.
This study shows that ddPCR can detect the common PIK3CA driver mutations in breast cancer with high sensitivity and accuracy in plasma cell-free DNA prior to and after surgery.
Significance
This paves the way for more rapid assessment of therapy success or dis- continuation and adjustment where and when appropriate.
The modified therapy has now been shown to be effective for 20 months by both ddPCR tracking of cell-free DNA and conventional imaging.
This may help to avoid overtreatment of breast cancer patients with postsurgery chemotherapy where only a minority of patients receive benefit yet all currently are exposed to the side effects.
treatment, ddPCR was used in parallel to quan- tify the melanoma-derived (BRAFV600K CMML-derived (NRASG12R
) and ) DNA in the patient’s
plasma. The close agreement of ddPCR results with conventional radiographic and hemato- logical monitoring supported the future use of ddPCR monitoring as an alternative to fre- quent radiographic monitoring of melanoma.
It is a great example of personalized medicine at work and shows how ddPCR might be used in concert with traditional tools to optimize cancer treatment in real time.
References 1. Nadauld, L.; Regan, J.F. et al. Quantitative
and sensitive detection of cancer genome amplifications from formalin fixed paraf- fin embedded tumors with droplet digital PCR. Transl. Med. Sept 2012, 2(2).
2. Hindson, C.M.; Chevillet, J.R. et al. Abso- lute quantification by droplet digital PCR versus analog real-time PCR. Nature Meth- ods Sept 2013, 10, 1003–5.
3. Robins, H.S.; Ericson, N.G. et al. Digital genomic quantification of tumor-infil- trating lymphocytes. Sci. Transl. Med. Dec 2013, 5(214), 214.
4. Abdel-Wahab, O.; Klimek, V.M. et al. Effi- cacy of intermittent combined RAF and MEK inhibition in a patient with concur- rent BRAF and NRAS mutant malignan- cies. Cancer Discovery March 2014.
AMERICAN LABORATORY • 29 • SEPTEMBER 2014
Dr. George Karlin-Neumann is Director of Scientific Affairs at Bio-Rad’s Digital Biology Center, 2000 Alfred Nobel Dr., Hercules, CA 94547, U.S.A.; tel.: 510-741-1000; e-mail: George_Karlin-Neumann@
bio-rad.com;
www.bio-rad.com
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