Nucleophosmin mutations in Chinese adults with acute myelogenous leukemia

Annals of Hematology
GuoRui RuanXiaoJun Huang

Abstract

Recently, mutations in the nucleophosmin (NPM1) gene were detected in 50-60% of adult acute myelogenous leukemia (AML) patients, mainly with a normal karyotype. In this study, we detected typical NPM1 mutations (types A, B, D) in untreated Chinese AML patients using real-time quantitative polymerase chain reaction (RQ-PCR) followed by sequence analysis. The detection rate of NPM1 mutations in 220 AML patients was 16.4%, including 107 (14.2%) with the French-American-British (FAB) subtype M2, 43 (2.3%) with M3, and 52 (30.8%) with M4/M5. Only one case each with an NPM1 mutation was detected in four M0, seven M1, five M6, and two M7 cases. Eight patients were followed up after treatment, and five patients in hematologic remission continued to test negative for NPM1 mutations within 2-14 months of follow-up. Sequence analysis revealed that all the 36 positive cases were heterozygous for the mutation with 4-bp insertions at nt 959; the 36 cases included 29 (80.6%) cases with type A, four (11.1%) cases with type B, and one rare DD-3 mutation. We also detected two new mutations, namely, CTCG and CAAG insertions, named BJ-01 and BJ-02, respectively. Further, 38.9% (14/36) patients with NPM1 mutations simultaneously exhibited internal ...Continue Reading

References

Apr 15, 2003·The Hematology Journal : the Official Journal of the European Haematology Association·Mohammad Hasan SheikhhaJohn Ahman Liu Yin
Jan 22, 2005·The New England Journal of Medicine·Brunangelo FaliniUNKNOWN GIMEMA Acute Leukemia Working Party
Jun 24, 2006·Nature Reviews. Cancer·Silvia GrisendiPier Paolo Pandolfi

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Citations

Oct 29, 2010·Journal of Hematology & Oncology·Maria BraoudakiFotini Tzortzatou-Stathopoulou
Dec 17, 2015·Asia-Pacific Journal of Clinical Oncology·Pulkit RastogiSubhash Varma
Dec 15, 2017·Stem Cells International·S S KappalaM S Pepper
Dec 18, 2015·Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine·Haimei GouBinwu Ying
Sep 28, 2017·DNA and Cell Biology·Lu YangYa-Zhen Qin
Sep 3, 2010·Archives of Pathology & Laboratory Medicine·Zhuang ZuoL Jeffrey Medeiros

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