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A 5-year (1990-1994) neuroblastoma screening feasibility study in France. Methodology and preliminary observations
P Mathieu1, D Frappaz, F Chauvin
1Service de Biologie Générale et de Neurobiologie, Centre hospitalier du Vinatier, Bron-Lyon, France.
Insights
This French pilot study screened infants for neuroblastoma using biochemical markers. While 12 cases were detected, further follow-up is needed to assess the screening program's impact on mortality rates.
Area of Science:
- Pediatric Oncology
- Biochemical Screening
- Public Health
Background:
- Pilot studies for infant neuroblastoma screening were implemented in Europe and North America, inspired by Japanese efforts.
- A 5-year feasibility study (1990-1994) for neuroblastoma screening at 4 months of age was conducted in France's Rhône district.
Purpose of the Study:
- To assess the feasibility of a large-scale infant screening program for neuroblastoma.
- To evaluate the detection rates and challenges associated with biochemical screening for neuroblastoma in infants.
Main Methods:
- Infant urine samples were analyzed for vanillylmandelic (VMA) and homovanillic (HVA) acids.
- High-performance liquid chromatography (HPLC) was used for VMA and HVA measurement, with creatinine (Cr) measured by kinetic method.
- Assay validation included daily intra-laboratory controls and participation in a national quality control program.
Main Results:
- An overall participation rate of 82.2% was achieved, with 105,293 infants tested.
- Twelve neuroblastoma (NB) cases were identified through screening, and one additional case was diagnosed later.
- The study identified 35 false-positive results and noted 3 false-negative cases; 6 cases were diagnosed clinically before screening.
Conclusions:
- The screening program demonstrated a high participation rate and identified neuroblastoma cases at an early stage.
- Challenges included missed tests, false positives, and false negatives, requiring careful interpretation of biochemical results.
- It is premature to draw definitive clinical conclusions regarding the impact on mortality rates; ongoing follow-up is necessary.
Introduction:
Following the pioneering Japanese experience, several European and North American groups implemented pilot studies on screening infants for neuroblastoma, considering the possibility of demonstrating a decrease in mortality rate. In France, a 5-year (1990-1994) feasibility study on neuroblastoma screening at the age of 4 months was initiated in the Rhône district (1.5 M inhabitants, 26,000 births per year).
Methods:
Vanillylmandelic (VMA) and homovanillic (HVA) acids were measured by HPLC, and creatinine (Cr) by the Jaffé's kinetic method on Technicon RA-XT. VMA and HVA were expressed as microgram/mg of Cr. The method was assessed with both a daily intra-laboratory control and a sample of urine obtained from a national quality control organism.
Results And Discussion:
The overall participation rate for the 5-year period was 82.2%. Out of 105,293 infants tested from 128,126 births, 12 NB cases were discovered with screening (screened cases) and 1 case was discovered with a late performed test (at 13 months of age). Six neuroblastomas were found clinically before the age of 4 m. Two cases were missed because the parents did not perform the test. Three children with normal tests at screening were false-negative cases: two of them were found secreting at diagnosis, while one remained non-secretory at diagnosis and later on. Otherwise, thirty-five false-positive tests were found. Biochemical observations are discussed. It is too early to reach clinical conclusions from this screening program on neuroblastomas as it is presently being followed up.