O. Blau et al., p53 mutation in intron 6 as a diagnostic marker for high risk childhood T-lineage acute lymphoblastic leukemia, INT J PED H, 6(5), 2000, pp. 361-367
Citations number
29
Categorie Soggetti
Pediatrics
Journal title
INTERNATIONAL JOURNAL OF PEDIATRIC HEMATOLOGY/ONCOLOGY
One hundred and twenty-tight children with acute lymphoblastic leukemia (AL
L), 52 T-lineage and 76 B-lineage, were analyzed for the p53 mutation in in
tron 6, which we have previously identified in diverse childhood malignanci
es. The mutation, a single base substitution from G to A, 39 base pairs ups
tream to exon 7, was exclusively identified in the T-lineage ALL patients (
6/52; 12%) (p = 0.0082). Five of the 6 patients with the mutation relapsed
(83%) compared to 17 out of 46 free of the mutation (37%) (Yates' chi(2) p
= 0.08). The frequency of the mutation in the relapsed group was 23% (5/22)
. The mutation was detected already at diagnosis in 5 of the 6 patients, in
one as a germ line. A significantly lower overall survival of the mutation
carriers was observed, 17% at 40 months of follow up compared with 69% in
those free of the mutation (p = 0.0057). A significant decrease in relapse
free survival was also observed between the two groups (p = 0.0195). We sug
gest that this mutation may have an important clinical relevance as a usefu
l diagnostic marker for high risk and poor prognosis T-cell ALL in children
.