Analysis of NPM1 gene mutations in acute myeloid leukemia / 中华血液学杂志
Chinese Journal of Hematology
; (12): 289-293, 2007.
Article
em Zh
| WPRIM
| ID: wpr-328362
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To evaluate the prevalence of nucleophosmin (NPM1) gene exon 12 mutations in adults with acute myeloid leukemia (AML) and its clinical characteristics.</p><p><b>METHODS</b>Genomic DNAs from 101 AML adults were screened by PCR and sequencing or capillary electrophoresis (CE) for NPMI mutations.</p><p><b>RESULTS</b>NPM1 exon 12 mutations were present in 31.7% of the overall cohort, including 1/1 (100%) of M0, 9/17(52.9%) of M1 , 7/25 (28.0%) of M2, 0/23(0%) of M3, 2/7 (28.6%) of M4 and 13/25 (52.0% ) of M5. NPM1 gene mutations were more prevalent in patients with normal karyotype (27/59, 45.8%) compared with that in those with karyotypic abnormalities (5/42, 11.9% ) (P < 0.001). NPM1 mutant cases were significantly associated with old age (P < 0.05), high peripheral white cell count (P < 0.05) and low expression of CD34 (P < 0.05) and CD17 (P<0.05). Sequence analysis of these NPM1 mutant cases revealed 5 known mutations (type A, B, D, N(M), and P(M)) and 1 novel variant (named as type S).</p><p><b>CONCLUSIONS</b>NPM1 exon 12 mutations occur with a considerable percentage in AML patients with normal karyotype, M1/M5 subtype and older age, and are associated with higher peripheral white cell count and lower expression of CD34 and CD117.</p>
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Análise Mutacional de DNA
/
Proteínas Nucleares
/
Leucemia Mieloide Aguda
/
Éxons
/
Genética
/
Mutação
Limite:
Adolescent
/
Adult
/
Aged
/
Female
/
Humans
/
Male
Idioma:
Zh
Revista:
Chinese Journal of Hematology
Ano de publicação:
2007
Tipo de documento:
Article