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A personalized diagnostic tool described as “powerful and nevertheless feasible” can detect and quantify human neuroblastoma cells in human blood and bone marrow samples.

Although detecting and quantifying the cancer cells that remain after treatment or that have migrated to new malignant sites is a powerful predictor of patient survival, few diagnostic strategies for identifying small numbers of these cancer cells exist. However, the work of a team led by Axel Weber at the Children’s Hospital, University of Leipzig, in Leipzig, Germany, has advanced this effort (J Clin Invest. doi:10.1172/JCI44415).


Evidence from hematologic malignancies indicates that a very small residual population of tumor cells during or after therapy can significantly influence patient outcomes.

The Weber team studied primary solid-tumor specimens from 40 children with neuroblastomas. The scientists focused on amplicons, characteristic duplications of genomic regions within cancer cells. Mapping amplified genomic regions around MYCN yielded blueprints in the form of amplicon fusion sites (AFS) bridging polymerase chain reaction (PCR) assays. “These assays were absolutely tumor cell specific and capable of detecting one tumor cell in 1×106 to 8×106 control cells,” wrote the investigators.

They concluded that once established from tissue of the primary tumor site, an individual AFS-PCR can track tumor cells or tumor cell DNA in potential metastatic sites of any tissue origin as well as in bone marrow aspirates, peripheral blood samples, and even in cerebral fluid, urine, or any other patient sample. ONA