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Screening for neuroblastoma at 3 weeks of age: methods and preliminary results from the Quebec Neuroblastoma
M Tuchman1, B Lemieux, C Auray-Blais
1Department of Pediatrics, University of Minnesota, Minneapolis 55455.
Insights
This Quebec study screened infants for neuroblastoma, detecting 4 tumors early. The screening aims to reduce mortality from this childhood cancer.
Area of Science:
- Pediatric Oncology
- Medical Screening
- Genetics
Background:
- Neuroblastoma is a significant childhood cancer.
- Early detection through screening can potentially reduce mortality.
- A large-scale screening program was initiated in Quebec, Canada.
Purpose of the Study:
- To evaluate the impact of infant screening for preclinical neuroblastoma detection.
- To assess the effectiveness of screening in reducing population-based mortality from neuroblastoma.
Main Methods:
- Screening all infants born in Quebec over a 5-year period.
- Utilizing urinary homovanillic acid and vanillylmandelic acid levels from dried filter paper samples.
- Employing thin-layer chromatography for initial screening and gas chromatography-mass spectrometry (GC-MS) for confirmation.
Main Results:
- Over 41,000 neonates were screened in the first 6 months with a 92% compliance rate.
- Nine neonates showed positive results on GC-MS, leading to evaluations.
- Four cases of neuroblastoma were confirmed among screened infants; one case was detected clinically despite negative screening results.
Conclusions:
- The screening identified neuroblastoma in a subset of screened infants.
- The study highlights the potential for early detection but also identifies limitations, such as cases missed by biochemical screening.
- Further analysis is needed to determine the overall impact on neuroblastoma mortality.
Abstract:
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.