Mutation Patterns of 16 Genes in Primary and Secondary Acute Myeloid Leukemia (AML) with Normal Cytogenetics

被引：53

作者：

Fernandez-Mercado, Marta ^{[1
]}

Yip, Bon Ham ^{[1
]}

Pellagatti, Andrea ^{[1
,2
]}

Davies, Carwyn ^{[1
]}

Jose Larrayoz, Maria

Kondo, Toshinori ^{[3
]}

Perez, Cristina ^{[4
]}

Killick, Sally ^{[5
]}

McDonald, Emma-Jane ^{[5
]}

Dolores Odero, Maria ^{[2
,6
]}

Agirre, Xabier ^{[7
,8
,9
]}

Prosper, Felipe ^{[7
,8
,9
]}

Jose Calasanz, Maria ^{[2
]}

Wainscoat, James S. ^{[1
]}

Boultwood, Jacqueline ^{[1
]}

机构：

[1] John Radcliffe Hosp, LLR Mol Haematol Unit, NDCLS, Oxford OX3 9DU, England

[2] Univ Navarra, Dept Genet, E-31080 Pamplona, Spain

[3] Kawasaki Med Sch, Div Hematol, Okayama, Japan

[4] Univ Navarra, Lab Myeloproliferat Syndromes, Oncol Area, Fdn Appl Med Res,Clin Univ, E-31080 Pamplona, Spain

[5] Royal Bournemouth Hosp, Dept Haematol, Bournemouth, Dorset, England

[6] Univ Navarra, Div Oncol, Ctr Appl Med Res, E-31080 Pamplona, Spain

[7] Univ Navarra, Div Canc, E-31080 Pamplona, Spain

[8] Univ Navarra, Area Cell Therapy, E-31080 Pamplona, Spain

[9] Univ Navarra, Hematol Serv, E-31080 Pamplona, Spain

来源：

PLOS ONE | 2012年 / 7卷 / 08期

关键词：

DNMT3A MUTATIONS; MYELODYSPLASTIC SYNDROMES; PROGNOSTIC IMPACT; ASXL1; TET2; EVENTS; RUNX1; IDH2; NPM1; JAK2;

D O I：

10.1371/journal.pone.0042334

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Acute myeloid leukemia patients with normal cytogenetics (CN-AML) account for almost half of AML cases. We aimed to study the frequency and relationship of a wide range of genes previously reported as mutated in AML (ASXL1, NPM1, FLT3, TET2, IDH1/2, RUNX1, DNMT3A, NRAS, JAK2, WT1, CBL, SF3B1, TP53, KRAS and MPL) in a series of 84 CN-AML cases. The most frequently mutated genes in primary cases were NPM1 (60.8%) and FLT3 (50.0%), and in secondary cases ASXL1 (48.5%) and TET2 (30.3%). We showed that 85% of CN-AML patients have mutations in at least one of ASXL1, NPM1, FLT3, TET2, IDH1/2 and/or RUNX1. Serial samples from 19 MDS/CMML cases that progressed to AML were analyzed for ASXL1/TET2/IDH1/2 mutations; seventeen cases presented mutations of at least one of these genes. However, there was no consistent pattern in mutation acquisition during disease progression. This report concerns the analysis of the largest number of gene mutations in CN-AML studied to date, and provides insight into the mutational profile of CN-AML.

引用

页数：7

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