Prognostic impact of IDH2 mutations in cytogenetically normal acute myeloid leukemia

被引：149

作者：

Thol, Felicitas ^{[1
]}

Damm, Frederik ^{[1
]}

Wagner, Katharina ^{[1
]}

Goehring, Gudrun ^{[2
]}

Schlegelberger, Brigitte ^{[2
]}

Hoelzer, Dieter ^{[3
]}

Luebbert, Michael ^{[4
]}

Heit, Wolfgang ^{[5
]}

Kanz, Lothar ^{[6
]}

Schlimok, Guenter ^{[7
]}

Raghavachar, Aruna ^{[8
]}

Fiedler, Walter ^{[9
]}

Kirchner, Hartmut ^{[10
]}

Heil, Gerhard ^{[1
,11
]}

Heuser, Michael ^{[1
]}

Krauter, Juergen ^{[1
]}

Ganser, Arnold ^{[1
]}

机构：

[1] Hannover Med Sch, Dept Hematol Hemostasis Oncol & Stem Cell Transpl, D-30625 Hannover, Germany

[2] Hannover Med Sch, Inst Cell & Mol Pathol, D-30625 Hannover, Germany

[3] Goethe Univ Frankfurt, Dept Internal Med 3, Frankfurt, Germany

[4] Univ Freiburg, Med Ctr, Dept Hematol Oncol, D-7800 Freiburg, Germany

[5] Ev Krankenhaus Essen Werden, Dept Hematol Oncol, Essen, Germany

[6] Univ Tubingen, Dept Internal Med 2, Tubingen, Germany

[7] Klinikum Augsburg, Dept Hematol & Oncol, Augsburg, Germany

[8] HELIOS Klinikum Wuppertal, Dept Hematol Oncol & Nephrol, Wuppertal, Germany

[9] Univ Hosp Hamburg Eppendorf, Hubertus Wald Univ Canc Ctr, Dept Med 2, Ctr Oncol, Hamburg, Germany

[10] Krankenhaus Siloah, Dept Internal Med 3, Hannover, Germany

[11] Klinikum Ludenscheid, Dept Internal Med 5, Ludenscheid, Germany

来源：

BLOOD | 2010年 / 116卷 / 04期

关键词：

ISOCITRATE-DEHYDROGENASE; 1; CANCER; GENOME;

D O I：

10.1182/blood-2010-03-272146

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Mutations in the nicotinamide adenine dinucleotide phosphate(+)-dependent isocitrate dehydrogenase gene 2 (IDH2) have recently been found in patients with acute myeloid leukemia (AML) as well as in patients with leukemic transformation of myeloproliferative neoplasms. We analyzed 272 adult patients with cytogenetically normal AML (CN-AML) for the presence of IDH2 mutations in codons R140 and R172. IDH2 mutations of amino acid 140 or 172 could be identified in 12.1% of CN-AML patients, with the majority of mutations (90%) occurring at position R140. The incidence of IDH2 mutations in AML patients with aberrant karyotypes (n = 130) was significantly lower (3.8%, P = .006). IDH2 mutations were mutually exclusive with mutations in IDH1. IDH2 mutation status alone or in combination with IDH1 mutations had no impact on response to therapy, overall survival, and relapse-free survival in patients with CN-AML. In conclusion, IDH2 mutations are frequently found in CN-AML, but in our analysis these mutations did not influence treatment outcome. This study was registered at www.clinicaltrials.gov as #NCT00209833. (Blood. 2010; 116(4): 614-616)

引用

页码：614 / 616

页数：3

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