title: Current urinary mass screening for catecholamine metabolites at 6 months of age may be detecting only a small portion of high-risk neuroblastomas: a chromosome and N-myc amplification study.
abstract: We studied 96 infants and children with untreated neuroblastomas. Chromosomes of tumor cells were analyzed in 68, and N-myc copy numbers were determined in 67 patients. Patients found by a mass screening program for 6-month-old infants (group A1, 39 patients) or those less than 12 months of age found clinically (group A2, 13 patients) were rarely in the disseminated stage (A1, three of 39; A2 one of 13); their tumors usually had near-triploid (3n) or hypertetraploid (greater than 4n) karyotypes (A1, 28 of 37; A2, nine of 11), and never had N-myc amplification (A1, zero of 34; A2, zero of 11). In contrast, children 12 months or over (group B, 27 patients) were usually in the disseminated stage (19 of 27) (P less than .0001); their tumors usually had near-diploid (2n) or near-tetraploid (4n) karyotypes (16 of 20) (P = .0027), and often had N-myc amplification (nine of 22) (P less than .0001). Of the 40 clinically found patients (A2 and B), six had undergone the screening with a negative result at the age of 6 months. Two of the six patients had N-myc amplification in the tumors. Most tumors found by the screening showed known characteristics predicting a good prognosis, and the majority of tumors showing characteristics predicting a poor prognosis were found in patients aged between 12 and 36 months. Our chromosome and N-myc amplification studies suggest that a low-risk tumor does not usually evolve to a high-risk tumor. Thus, the current mass screening program may be detecting only a small portion of highly malignant neuroblastomas at the earliest stage. Infants should be screened twice, at 6 months as well as at 12 months of age, for the early detection of high-risk neuroblastomas.
authors.affiliation: Department of Laboratory Medicine, Saitama Cancer Center, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Kaneko
authors.forename: N
authors.initials: N
authors.lastname: Kanda
authors.forename: N
authors.initials: N
authors.lastname: Maseki
authors.forename: K
authors.initials: K
authors.lastname: Nakachi
authors.forename: T
authors.initials: T
authors.lastname: Takeda
authors.forename: I
authors.initials: I
authors.lastname: Okabe
authors.forename: M
authors.initials: M
authors.lastname: Sakurai
mesh_terms: D000367:Age Factors; D002395:Catecholamines / Q000652:urine; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D002878:Chromosomes, Human, Pair 1; D005784:Gene Amplification / Q000235:genetics*; D016259:Genes, myc; D006801:Humans; D007223:Infant; D008403:Mass Screening / Q000379:methods*; D009447:Neuroblastoma / Q000235:genetics* / Q000401:mortality / Q000652:urine; D011003:Ploidies; D011379:Prognosis; D015996:Survival Rate
chemical_list: D002395:Catecholamines