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KMID : 1100720130330010060
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Annals of Laboratory Medicine
2013 Volume.33 No. 1 p.60 ~ p.64
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Identification of Two Novel NPM1 Mutations in Patients with Acute Myeloid Leukemia
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Jeon Yong-Bum
Seo Sang-Won
Park Seung-Man
Ra Eun-Kyung
Park Sung-Sup
Seong Moon-Woo
Park Seon-Yang
Kim So-Yeon
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Abstract
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Background: Genetic abnormalities in adult AML are caused most frequently by somatic mutations in exon 12 of the NPM1 gene, which is observed in approximately 35% of AML patients and up to 60% of patients with cytogenetically normal AML (CN-AML).
Methods: We performed mutational analysis, including fragment analysis and direct sequencing of exon 12 of the NPM1 gene, on 83 AML patients to characterize the NPM1 mutations completely.
Results: In this study, NPM1 mutations were identified in 19 (22.9%) of the 83 AML patients and in 12 (42.9%) of the 28 CN-AML patients. Among the 19 patients with NPM1 mutations, type A NPM1 mutations were identified in 16 (84.2%) patients, whereas non-A type NPM1 mutations were observed in 3 (15.8%) patients. Two of the 3 non-A type NPM1 mutations were novel: c.867_868insAAAC and c.869_873indelCTTTAGCCC. These 2 novel mutant proteins display a nuclear export signal motif (L-xxx-L-xx-V-x-L) less frequently and exhibit a mutation at tryptophan 290 that disrupts the nucleolar localization signal.
Conclusions: This study suggests that novel NPM1 mutations may be non-rare and that supplementary sequence analysis is needed along with conventional targeted mutational analysis to detect non-A types of NPM1 mutations.
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KEYWORD
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NPM1, Nucleophosmin, AML
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