This current study showed that down-regulation of NPM1 is rare or is not found in the 5q- syndrome and in other early MDS subtypes with the del(5q), but is common in advanced MDS with the del(5q) and is associated with the presence of a complex karyotype. These data support the hypothesis that reduced expression of NPM1 may play a role in the molecular pathogenesis of advanced MDS with the del(5q) and we suggest that this may be related to a concomitant increase in genomic instability in these cases.
Marked down-regulation of nucleophosmin-1 is associated with advanced del(5q) myelodysplastic syndrome
CAZZOLA, MARIO;MALCOVATI, LUCA;DELLA PORTA, MATTEO GIOVANNI;
2011-01-01
Abstract
This current study showed that down-regulation of NPM1 is rare or is not found in the 5q- syndrome and in other early MDS subtypes with the del(5q), but is common in advanced MDS with the del(5q) and is associated with the presence of a complex karyotype. These data support the hypothesis that reduced expression of NPM1 may play a role in the molecular pathogenesis of advanced MDS with the del(5q) and we suggest that this may be related to a concomitant increase in genomic instability in these cases.File in questo prodotto:
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