Acute Myeloid Leukemia With IDH1 or IDH2 Mutation Frequency and Clinicopathologic Features

被引：133
|
作者：
Patel, Keyur P. [1 ]
Ravandi, Farhad [2 ]
Ma, Deqin [1 ]
Paladugu, Abhaya [1 ]
Barkoh, Bedia A. [1 ]
Medeiros, L. Jeffrey [1 ]
Luthra, Rajyalakshmi [1 ]
机构：
[1] Univ Texas MD Anderson Canc Ctr, Dept Hematopathol, Houston, TX 77030 USA
[2] Univ Texas MD Anderson Canc Ctr, Dept Leukemia, Houston, TX 77030 USA
来源：
AMERICAN JOURNAL OF CLINICAL PATHOLOGY | 2011年 / 135卷 / 01期
关键词：
Acute myeloid leukemia; Isocitrate dehydrogenase; IDH1; IDH2; Mutation; ISOCITRATE-DEHYDROGENASE; 1; CODON; 132; GENE; DIFFERENTIATION; GLIOMAS; PHASES;
D O I：
10.1309/AJCPD7NR2RMNQDVF
中图分类号：
R36 [病理学];
学科分类号：
100104 ;
摘要：
Mutations in the isocitrate dehydrogenase 1 (1DH1) and IDH2 genes are reported in acute myeloid leukemia (AML). We studied the frequency and the clinicopathologic features of IDH1 and IDH2 mutations in AML. Mutations in IDH1 (IDH1(R132)) and IDH2 (1DH2(R172)) were assessed by Sanger sequencing in 199 AML cases. Point mutations in IDH1 1132 were detected in 12 (6.0%) of 199 cases and in IDH2(R172) in 4 (2.0%) of 196 cases. Of the 16 mutated cases, 15 (94%) were cytogenetically normal, for an overall frequency in this group of 11.8%. IDH1(R132) and IDH2(R172) mutations were mutually exclusive. Concurrent mutations in NPM1, FLT3, CEBPA, and NRAS were detected only in AML with the IDH1(R132) imitation. The clinical and laboratory variables of patients with AML with IDH mutations showed no significant differences compared with patients with wild-type IDH. We conclude that IDH1(R132) and IDH2(R172) imitations occur most often in cytogenetically normal AML cases with an overall frequency of approximately 11.8%.
引用
收藏
页码：35 / 45
页数：11
相关论文
共 50 条
  • [41] IDH1 and IDH2 Mutations in Gliomas
    Cohen, Adam L.
    Holmen, Sheri L.
    Colman, Howard
    CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS, 2013, 13 (05)
  • [42] IDH1 and IDH2 Mutations in Gliomas
    Yan, Hai
    Parsons, D. Williams
    Jin, Genglin
    McLendon, Roger
    Rasheed, B. Ahmed
    Yuan, Weishi
    Kos, Ivan
    Batinic-Haberle, Ines
    Jones, Sian
    Riggins, Gregory J.
    Friedman, Henry
    Friedman, Allan
    Reardon, David
    Herndon, James
    Kinzler, Kenneth W.
    Velculescu, Victor E.
    Vogelstein, Bert
    Bigner, Darell D.
    NEW ENGLAND JOURNAL OF MEDICINE, 2009, 360 (08): : 765 - 773
  • [43] Impact of IDH1 and IDH2 mutational subgroups in acute myeloid leukemia patients after allogeneic hematopoietic cell transplantation
    Kunadt, D.
    Stasik, S.
    Metzeler, K.
    Roellig, C.
    Kramer, M.
    Greif, P.
    Spiekermann, K.
    Rothenberg-Thurley, M.
    Krug, U.
    Braess, J.
    Kraemer, A.
    Hochhaus, A.
    Bruemmendorf, T.
    Jost, E.
    Steffen, B.
    Bug, G.
    Einsele, H.
    Burchert, A.
    Neubauer, A.
    Goerlich, D.
    Sauerland, C.
    Schaefer-Eckart, K.
    Schliemann, C.
    Stelljes, M.
    Krause, S.
    Haenel, M.
    Hanoun, M.
    Kaufmann, M.
    Woermann, B.
    Sockel, K.
    Ruhnke, L.
    Egger-Heidrich, K.
    Herold, T.
    Mueller-Tidow, C.
    Platzbecker, U.
    Berdel, W.
    Serve, H.
    Baldus, C.
    Ehninger, G.
    Hiddemann, W.
    Schetelig, J.
    Thiede, C.
    Bornhaeuser, M.
    Middeke, J. M.
    Stoelzel, F.
    BONE MARROW TRANSPLANTATION, 2022, 57 (SUPPL 1) : 17 - 17
  • [44] IDH1 and IDH2 mutations are frequent in Chinese patients with acute myeloid leukemia but rare in other types of hematological disorders
    Zou, Yang
    Zeng, Yun
    Zhang, Deng-Feng
    Zou, Shan-Hua
    Cheng, Yun-Feng
    Yao, Yong-Gang
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2010, 402 (02) : 378 - 383
  • [45] Development of a Closed System qPCR Assay to Detect Mutations in IDH1/IDH2 in Patients with Acute Myeloid Leukemia (AML)
    Baculi, Edgar
    Kadiyala, Vineela
    Tan, Long
    Bach Nguyen
    Nhung Huynh
    Song, Tengyao
    Day, Gwo-Jen
    Yuan, Lin
    Bates, Michael
    Wei, Huilin
    BLOOD, 2023, 142
  • [46] Primary acute myeloid leukemia cells with IDH1 or IDH2 mutations respond to a DOT1L inhibitor in vitro
    Sarkaria, S. M.
    Christopher, M. J.
    Klco, J. M.
    Ley, T. J.
    LEUKEMIA, 2014, 28 (12) : 2403 - 2406
  • [47] The Idylla™ IDH1-2 Mutation Assay Kit: A tool for mutation detection in IDH1 and IDH2 genes
    De Craene, Bram
    Trappeniers, Katrien
    Marcelino, Ana
    Robertson, Lee
    Taniere, Phillippe
    Van Dorpe, Jo
    Van der Linden, Malaika
    Arcila, Maria
    Nafa, Khedoudja
    Lennerz, Jochen K.
    Carson, Richard Craig
    Ledding, Richard D.
    Metsu, Sofie
    CANCER RESEARCH, 2024, 84 (06)
  • [48] Primary acute myeloid leukemia cells with IDH1 or IDH2 mutations respond to a DOT1L inhibitor in vitro
    S M Sarkaria
    M J Christopher
    J M Klco
    T J Ley
    Leukemia, 2014, 28 : 2403 - 2406
  • [49] IDH1 and IDH2 Mutations in Colorectal Cancers
    Huang, Jialing
    Tseng, Li-Hui
    Parini, Vamsi
    Lokhandwala, Parvez M.
    Pallavajjala, Aparna
    Rodriguez, Erika
    Xian, Rena
    Chen, Liam
    Gocke, Christopher D.
    Eshleman, James R.
    Lin, Ming-Tseh
    AMERICAN JOURNAL OF CLINICAL PATHOLOGY, 2021, 156 (05) : 777 - 786
  • [50] IDH1 and IDH2 Mutations in Colorectal Cancers
    Lin, M.
    Huang, J.
    Tseng, L.
    Lokhandwala, P.
    Pallavajjala, A.
    Rodriguez, E.
    Xian, R.
    Chen, L.
    Gocke, C.
    Eshleman, J.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2020, 22 (11): : S71 - S71
12345