Screening for neuroblastoma at 3 weeks of age: methods and preliminary results from the Quebec Neuroblastoma Screening Project.
A large neuroblastoma screening study was recently started in the province of Quebec, Canada. This project, a collaboration between the Quebec Network for Genetic Medicine and the University of Minnesota, is studying the impact of screening infants for the preclinical detection of neuroblastoma on the population-based mortality caused by this tumor. All infants born in Quebec during a 5-year period will be screened twice, at 3 weeks and at 6 months. Urinary homovanillic acid and vanillylmandelic acid determination from dried filter paper samples is used for screening. Initial qualitative screening is done by means of thin-layer chromatography with confirmatory quantitative screening by gas chromatography-mass spectrometry (GC-MS). During the initial 6 months of 3-week screening, 41,673 neonates (92% compliance rate) were screened and 10.6% of them were tested also by GC-MS. Nine of these neonates had positive results on two GC-MS tests and were referred for evaluation to rule out the presence of neuroblastoma. Four had the tumor, 1 had a calcified adrenal gland, and 4 had no tumor detected. Three additional neonates had clinical diagnosis of neuroblastoma before they reached the screening age of 3 weeks. A neuroblastoma that did not secrete homovanillic acid or vanillylmandelic acid was diagnosed clinically in 1 additional patient who tested negative by screening.
Tuchman
M
M
Department of Pediatrics, University of Minnesota, Minneapolis 55455.
Lemieux
B
B
Auray-Blais
C
C
Robison
L L
LL
Giguere
R
R
McCann
M T
MT
Woods
W G
WG
D002849:Chromatography, Gas / Q000379:methods / Q000592:standards; D002855:Chromatography, Thin Layer / Q000379:methods / Q000592:standards; D005189:False Positive Reactions; D006719:Homovanillic Acid / Q000652:urine; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008403:Mass Screening / Q000379:methods / Q000592:standards*; D009447:Neuroblastoma / Q000453:epidemiology / Q000517:prevention & control* / Q000652:urine; D011792:Quebec / Q000453:epidemiology; D014642:Vanilmandelic Acid / Q000652:urine
D014642:Vanilmandelic Acid; D006719:Homovanillic Acid