February 10, 2011
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Amplicon fusion site polymerase chain reaction effectively detected cancer cells

Weber A. J Clin Invest. 2011;doi:10.1172/JCI44415.

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Amplicon fusion site polymerase chain reaction could be a powerful diagnostic tool in patients with various cancers, according to researchers at the Children’s Hospital in Leipzig, Germany.

In this retrospective study, investigators selected 40 samples from 230 tumor specimens collected from children diagnosed with MYCN-amplified neuroblastomas from 1986 to 2003. The tissue was selected based on quality of DNA isolation.

Using a high-resolution tiling array, researchers mapped amplified genomic regions around proto-oncogene MYCN human neuroblastomas. They then used the high-resolution tiling array data to accurately describe the telomeric and centromeric borders of the amplified genomic regions and predict virtual fusion sites of the joined amplicon fusion sites. This allowed them to create amplicon fusion site polymerase chain reaction (AFS-PCR) assays, and they found that the assays were perfectly tumor-cell specific, capable of detecting one tumor cell in 1x106 to 8x106control cells.

The researchers demonstrated that the use of in vivo AFS-PCR can detect and quantify the specific AFS DNA of human MYCN-amplified neuroblastomas in patients’ corresponding blood and bone marrow samples.

“We believe AFS-PCR could become a powerful and, nevertheless, feasible personalized diagnostic tool applicable to a large number of cancer patients, including children with MYCN-amplified neuroblastomas,” the researchers wrote.

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