Disomy 1 with terminal 1p deletion is frequent in mass-screening-negative/late-presenting neuroblastomas in young children, but not in mass-screening-positive neuroblastomas in infants.
The mass screening (MS) of neuroblastoma has been undertaken in Japan by measuring urinary catecholamine metabolites in infants at the age of 6 months.
To clarify the biological characteristics of MS-positive (MS+) tumors in infants and MS-negative (MS-) llate-presenting tumors in young children, metaphase cytogenetic and/or interphase 2-color FISH analyses using terminal I p and pericentromeric lq probes were performed on 246 (186 MS+and 60 MS-) patients with neuroblastomas.
The 246 tumors were classified into 4 groups on the basis of the constitution of chromosome 1 ; 22 tumors had disomy I with no 1p deletion (Dis I Norm I p) ; 41 tumors had disomy I or tetrasomy I, all with the I p deletion (Dis I DeIIp) ; 164 tumors had trisomy I, pentasomy I, or a mixed population of cells with trisomy I and cells with tetrasomy I, none with Ip deletion (Tris I Norm I p) ; 19 tumors with the same copy numbers of chromosome I as the Tris I Norm I p group, had Ip deletion (Tris I Dell p). mycn amplification was absent in the DislNormlp and Tris I DeIIp groups, frequent in the Dis IDeII p group (24141), and rare in the Tris I Norm I p group (3/164) (p<0.0001).
Event-free survival at 5 years was lowest [19.5% ; 95% confidence interval (Cl), 5.1-33.9] in the Dis I Dell p group, highest in the Tris I Norm I p (96.3% ; 95% Cl, 93.5-99.2) and Tris I Dell p (94.7% ; 95% Cl, 84.7-104.8) groups, and intermediate but varied (54.5% ; 95% Cl, 33.7-75.4) in the Dis I Norm I p group (p<0.0001). (...)
Mots-clés Pascal : Neuroblastome, Délétion, Chromosome A1 anormal, Chromosome anormal, Aberration chromosomique, Dépistage, Tardif, Cytogénétique, Nourrisson, Homme, Enfant, Système nerveux pathologie, Système nerveux sympathique pathologie, Tumeur maligne, Génétique, Disomie
Mots-clés Pascal anglais : Neuroblastoma, Deletion, Abnormal chromosome A1, Abnormal chromosome, Chromosomal aberration, Medical screening, Late, Cytogenetics, Infant, Human, Child, Nervous system diseases, Autonomic neuropathy, Malignant tumor, Genetics
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 99-0034781
Code Inist : 002B17E. Création : 31/05/1999.