IDH1 and IDH2 mutation analysis in chronic- and blast-phase myeloproliferative neoplasms

被引:145
作者
Pardanani, A. [1 ]
Lasho, T. L. [1 ]
Finke, C. M. [1 ]
Mai, M. [2 ]
McClure, R. F. [2 ]
Tefferi, A. [1 ]
机构
[1] Mayo Clin, Dept Med, Div Hematol, Rochester, MN 55905 USA
[2] Mayo Clin, Div Hematopathol, Dept Lab Med, Rochester, MN 55905 USA
关键词
IDH; isocitrate dehydrogenase; mutations; ISOCITRATE-DEHYDROGENASE; 1; LEUKEMIA;
D O I
10.1038/leu.2010.77
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Bone marrow DNA was screened for isocitrate dehydrogenase (IDH) mutations in 200 patients with chronic (n = 166) or blast (n = 34) phase myeloproliferative neoplasms (MPN). Included among the former were 77 patients with primary myelofibrosis (PMF), 47 essential thrombocythemia and 38 polycythemia vera (PV). Nine IDH mutations (5 IDH1 and 4 IDH2) were detected; mutational frequencies were similar to 21% (7 of 34) for blast-phase MPN and similar to 4% (3 of 77) for PMF. IDH mutations were seen in only 1 of 12 paired chronic-blast-phase samples and in none of 27 concurrently studied acute myeloid leukemia (AML) patients without antecedent MPN. IDH1 mutations included R132C (n = 4; two post-PMF AML, one post-PV AML and one PMF) and R132S (n = 1; post-PMF AML). IDH2 mutations included R140Q (n = 3; one post-PMF AML, one post-PV AML and one PMF) and a novel R140W (n = 1; mutation found in both chronic- and blast-phase samples). The entire study cohort was also screened for JAK2 and MPL mutations and JAK2V617F was found in three IDH-mutated cases (two PMF and one PV). This study shows a relatively high incidence of IDH mutations in blast-phase MPN, regardless of JAK2 mutational status, and the occurrence of similar mutations in chronic-phase PMF. Leukemia (2010) 24, 1146-1151; doi:10.1038/leu.2010.77; published online 22 April 2010
引用
收藏
页码:1146 / 1151
页数:6
相关论文
共 17 条
[1]   IDH1 Mutations at Residue p.R132 (IDH1R132) Occur Frequently in High-Grade Gliomas But Not in Other Solid Tumors [J].
Bleeker, Fonnet E. ;
Lamba, Simona ;
Leenstra, Sieger ;
Troost, Dirk ;
Hulsebos, Theo ;
Vandertop, W. Peter ;
Frattini, Milo ;
Molinari, Francesca ;
Knowles, Margaret ;
Cerrato, Aniello ;
Rodolfo, Monica ;
Scarpa, Aldo ;
Felicioni, Lara ;
Buttitta, Fiamma ;
Malatesta, Sara ;
Marchetti, Antonio ;
Bardelli, Alberto .
HUMAN MUTATION, 2009, 30 (01) :7-11
[2]   Distinct clinical and biologic characteristics in adult acute myeloid leukemia bearing the isocitrate dehydrogenase 1 mutation [J].
Chou, Wen-Chien ;
Hou, Hsin-An ;
Chen, Chien-Yuan ;
Tang, Jih-Luh ;
Yao, Ming ;
Tsay, Woei ;
Ko, Bor-Shen ;
Wu, Shang-Ju ;
Huang, Shang-Yi ;
Hsu, Szu-Chun ;
Chen, Yao-Chang ;
Huang, Yen-Ning ;
Chang, Yi-Chang ;
Lee, Fen-Yu ;
Liu, Ming-Chi ;
Liu, Chia-Wen ;
Tseng, Mei-Hsuan ;
Huang, Chi-Fei ;
Tien, Hwei-Fang .
BLOOD, 2010, 115 (14) :2749-2754
[3]   Cancer-associated IDH1 mutations produce 2-hydroxyglutarate [J].
Dang, Lenny ;
White, David W. ;
Gross, Stefan ;
Bennett, Bryson D. ;
Bittinger, Mark A. ;
Driggers, Edward M. ;
Fantin, Valeria R. ;
Jang, Hyun Gyung ;
Jin, Shengfang ;
Keenan, Marie C. ;
Marks, Kevin M. ;
Prins, Robert M. ;
Ward, Patrick S. ;
Yen, Katharine E. ;
Liau, Linda M. ;
Rabinowitz, Joshua D. ;
Cantley, Lewis C. ;
Thompson, Craig B. ;
Heiden, Matthew G. Vander ;
Su, Shinsan M. .
NATURE, 2009, 462 (7274) :739-U52
[4]   Somatic Mutations of IDH1 and IDH2 in the Leukemic Transformation of Myeloproliferative Neoplasms [J].
Green, Anthony ;
Beer, Philip .
NEW ENGLAND JOURNAL OF MEDICINE, 2010, 362 (04) :369-370
[5]   Cancer-associated metabolite 2-hydroxyglutarate accumulates in acute myelogenous leukemia with isocitrate dehydrogenase 1 and 2 mutations [J].
Gross, Stefan ;
Cairns, Rob A. ;
Minden, Mark D. ;
Driggers, Edward M. ;
Bittinger, Mark A. ;
Jang, Hyun Gyung ;
Sasaki, Masato ;
Jin, Shengfang ;
Schenkein, David P. ;
Su, Shinsan M. ;
Dang, Lenny ;
Fantin, Valeria R. ;
Mak, Tak W. .
JOURNAL OF EXPERIMENTAL MEDICINE, 2010, 207 (02) :339-344
[6]   Recurring Mutations Found by Sequencing an Acute Myeloid Leukemia Genome [J].
Mardis, Elaine R. ;
Ding, Li ;
Dooling, David J. ;
Larson, David E. ;
McLellan, Michael D. ;
Chen, Ken ;
Koboldt, Daniel C. ;
Fulton, Robert S. ;
Delehaunty, Kim D. ;
McGrath, Sean D. ;
Fulton, Lucinda A. ;
Locke, Devin P. ;
Magrini, Vincent J. ;
Abbott, Rachel M. ;
Vickery, Tammi L. ;
Reed, Jerry S. ;
Robinson, Jody S. ;
Wylie, Todd ;
Smith, Scott M. ;
Carmichael, Lynn ;
Eldred, James M. ;
Harris, Christopher C. ;
Walker, Jason ;
Peck, Joshua B. ;
Du, Feiyu ;
Dukes, Adam F. ;
Sanderson, Gabriel E. ;
Brummett, Anthony M. ;
Clark, Eric ;
McMichael, Joshua F. ;
Meyer, Rick J. ;
Schindler, Jonathan K. ;
Pohl, Craig S. ;
Wallis, John W. ;
Shi, Xiaoqi ;
Lin, Ling ;
Schmidt, Heather ;
Tang, Yuzhu ;
Haipek, Carrie ;
Wiechert, Madeline E. ;
Ivy, Jolynda V. ;
Kalicki, Joelle ;
Elliott, Glendoria ;
Ries, Rhonda E. ;
Payton, Jacqueline E. ;
Westervelt, Peter ;
Tomasson, Michael H. ;
Watson, Mark A. ;
Baty, Jack ;
Heath, Sharon .
NEW ENGLAND JOURNAL OF MEDICINE, 2009, 361 (11) :1058-1066
[7]   IDH1 Mutations as Molecular Signature and Predictive Factor of Secondary Glioblastomas [J].
Nobusawa, Sumihito ;
Watanabe, Takuya ;
Kleihues, Paul ;
Ohgaki, Hiroko .
CLINICAL CANCER RESEARCH, 2009, 15 (19) :6002-6007
[8]   Absence of IDH2 codon 172 mutation in common human cancers [J].
Park, Sang Wook ;
Chung, Nak Gyun ;
Han, Ji Youn ;
Eom, Hyeon Seok ;
Lee, Ji Youl ;
Yoo, Nam Jin ;
Lee, Sug Hyung .
INTERNATIONAL JOURNAL OF CANCER, 2009, 125 (10) :2485-2486
[9]   An integrated genomic analysis of human glioblastoma Multiforme [J].
Parsons, D. Williams ;
Jones, Sian ;
Zhang, Xiaosong ;
Lin, Jimmy Cheng-Ho ;
Leary, Rebecca J. ;
Angenendt, Philipp ;
Mankoo, Parminder ;
Carter, Hannah ;
Siu, I-Mei ;
Gallia, Gary L. ;
Olivi, Alessandro ;
McLendon, Roger ;
Rasheed, B. Ahmed ;
Keir, Stephen ;
Nikolskaya, Tatiana ;
Nikolsky, Yuri ;
Busam, Dana A. ;
Tekleab, Hanna ;
Diaz, Luis A., Jr. ;
Hartigan, James ;
Smith, Doug R. ;
Strausberg, Robert L. ;
Marie, Suely Kazue Nagahashi ;
Shinjo, Sueli Mieko Oba ;
Yan, Hai ;
Riggins, Gregory J. ;
Bigner, Darell D. ;
Karchin, Rachel ;
Papadopoulos, Nick ;
Parmigiani, Giovanni ;
Vogelstein, Bert ;
Velculescu, Victor E. ;
Kinzler, Kenneth W. .
SCIENCE, 2008, 321 (5897) :1807-1812
[10]   MPL W515L/K mutations in 343 Chinese adults with JAK2V617F mutation-negative chronic myeloproliferative disorders detected by a newly developed RQ-PCR based on Taq Man MGB probes [J].
Ruan, Guo-Rui ;
Jiang, Bin ;
Li, Ling-Di ;
Niu, Ji-Hong ;
Li, Jin-Lan ;
Xie, Min ;
Qin, Ya-Zhen ;
Liu, Yan-Rong ;
Huang, Xiao-Jun ;
Chen, Shan-Shan .
HEMATOLOGICAL ONCOLOGY, 2010, 28 (01) :33-39