While adrenomedullin is the most promising, the study found a total of 92 candidate genes with elevated expression in the tumors.

Researchers identified proteins that could be biological markers of noncancerous tumors, called neurofibromatosis 1 (NF1), that affect peripheral nerves. These tumors can change to a highly aggressive cancer called malignant peripheral nerve sheath tumors (MPNST), which the biomarker could also potentially identify. 

NF1 is an autosomal dominant inherited disease. The NF1 gene makes a large and complex protein called neurofibromin, which may play a role in tumor suppression.

The investigators used comparative microarray gene expression analysis on normal human Schwann cell cultures and neurofibroma/MPNST cell cultures as well as plexiform neurofibromas and MPNST tumors.

They identified 92 candidate genes that may produce secreted proteins at significantly higher levels in plexiform neurofibromas/MPNST than in the normal Schwann cells. The team also found that one protein, adrenomedullin, occurred at the highest levels in blood samples from NF1 patients when compared to blood from healthy patients. Higher levels of adrenomedullin, a protein linked to the enhancement of tumor cell blood supply,  were observed in all NF1/MPNST cell cultures samples.

“We documented that adrenomedullin is promising as a potential biomarker for NF1 and in higher concentrations this protein may be an indication of MPNST,” says Trent Hummel, M.D., a physician in the division of experimental hematology at Cincinnati Children’s Hospital Medical Center and lead researcher.

The study was conducted by investigators at Cincinnati Children’s Hospital Medical Center, University of Cincinnati College of Medicine, and the NF1 Microarray Consortium. The study findings are presented May 16 at the annual meeting of the American Society of Pediatric Hematology/Oncology.

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