title: Diagnostic identification of malignant cells in the cerebrospinal fluid by tumor-specific qRT-PCR.
abstract: Tumor specific quantitative RT-PCRs for two neuroblastoma specific molecular markers, tyrosine hydroxylase (TH) and GD2 synthase, were used to unequivocally demonstrate the neoplastic nature of the cells present in the cerebrospinal fluid of a neuroblastoma patient. After radical surgery of two separate tumoral lesions, localized in the extradural area, the patient presented with meningitis. Common sites of neuroblastoma metastatization, e.g. bone and bone marrow, were not infiltrated by tumor cells, as assessed by standard scintigraphy, morphological investigation and by sensitive and specific immunocytochemical and molecular assays. The results presented here demonstrate the successful use of tumor-specific qRT-PCRs in cerebrospinal fluid to investigate questionable clinical cases. The technique, which compared to other detection methods (e.g., immunocytochemistry) requires very few cells, yields unambiguous information once a suspected diagnosis has been formulated and a tumor-specific molecular marker is available.
authors.affiliation: Department of Hematology-Oncology, Gaslini Institute, 16147, Genoa, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Rosanda
authors.forename: Claudio
authors.initials: C
authors.lastname: Gambini
authors.forename: Barbara
authors.initials: B
authors.lastname: Carlini
authors.forename: Massimo
authors.initials: M
authors.lastname: Conte
authors.forename: Bruno
authors.initials: B
authors.lastname: De Bernardi
authors.forename: Alberto
authors.initials: A
authors.lastname: Garaventa
authors.forename: Maria Valeria
authors.initials: MV
authors.lastname: Corrias
mesh_terms: D000293:Adolescent; D014408:Biomarkers, Tumor / Q000032:analysis; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008577:Meningeal Neoplasms / Q000134:cerebrospinal fluid*; D017350:N-Acetylgalactosaminyltransferases / Q000032:analysis; D018365:Neoplasm, Residual / Q000134:cerebrospinal fluid; D009447:Neuroblastoma / Q000134:cerebrospinal fluid* / Q000556:secondary*; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods*; D014446:Tyrosine 3-Monooxygenase / Q000032:analysis
chemical_list: D014408:Biomarkers, Tumor; D014446:Tyrosine 3-Monooxygenase; D017350:N-Acetylgalactosaminyltransferases; C023220:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase