title: Diagnosis of the small round blue cell tumors using multiplex polymerase chain reaction.
abstract: The small round blue cell tumors of childhood, which include neuroblastoma, rhabdomyosarcoma, non-Hodgkin's lymphoma, and the Ewing's family of tumors, are so called because of their similar appearance on routine histology. Using cDNA microarray gene expression profiles and artificial neural networks (ANNs), we previously identified 93 genes capable of diagnosing these cancers. Using a subset of these, together with some additional genes (total 39), we developed a multiplex polymerase chain reaction (PCR) assay to diagnose these cancer types. Blinded testing of 96 new samples (26 Ewing's family of tumors, 29 rhabdomyosarcomas, 24 neuroblastomas, and 17 lymphomas) using ANNs in a complete leave-one-out analysis demonstrated that all except one sample were accurately diagnosed as their respective category. Moreover, using an ANN-based gene minimization strategy in a separate analysis, we found that the top 31 genes could correctly diagnose all 96 tumors. Our results suggest that this molecular test based on a multiplex PCR reaction may assist the physician in the rapid confirmation of the diagnosis of these cancers.
authors.affiliation: Oncogenomics Section, Pediatric Oncology Branch, Advanced Technology Center, National Cancer Institute, 8717 Grovemont Circle, Gaithersburg, MD 20877, USA.
authors.forename: Qing-Rong
authors.initials: QR
authors.lastname: Chen
authors.forename: Gordon
authors.initials: G
authors.lastname: Vansant
authors.forename: Kahuku
authors.initials: K
authors.lastname: Oades
authors.forename: Maria
authors.initials: M
authors.lastname: Pickering
authors.forename: Jun S
authors.initials: JS
authors.lastname: Wei
authors.forename: Young K
authors.initials: YK
authors.lastname: Song
authors.forename: Joseph
authors.initials: J
authors.lastname: Monforte
authors.forename: Javed
authors.initials: J
authors.lastname: Khan
mesh_terms: D016000:Cluster Analysis; D017931:DNA Primers; D003937:Diagnosis, Differential; D006801:Humans; D008223:Lymphoma / Q000235:genetics*; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D016571:Neural Networks, Computer; D009447:Neuroblastoma / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods*; D012208:Rhabdomyosarcoma / Q000235:genetics*; D012512:Sarcoma, Ewing / Q000235:genetics*
chemical_list: D017931:DNA Primers