Isocitrate dehydrogenase mutation hot spots in acute lymphoblastic leukemia and oral cancer

Kaohsiung Journal of Medical Sciences

Volumn 28, Issue 3, 2012, Pages 138-144

  Tang, Jen Yang ^a,b   Chang, Chun Chi ^a,c   Lin, Pei Chin ^a,b   Chang, Jan Gowth ^a,b,d  

^a KAOHSIUNG MEDICAL UNIVERSITY   (Taiwan)

^b KAOHSIUNG MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^c CHANGHUA CHRISTIAN HOSPITAL   (Taiwan)

^d KAOHSIUNG MEDICAL UNIVERSITY   (Taiwan)

Author keywords

HRM; IDH; Leukemia; Mutation; Oral cancer

Indexed keywords

ISOCITRATE DEHYDROGENASE;

ACUTE LYMPHOBLASTIC LEUKEMIA; ADULT; ARTICLE; CHILD; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; MOUTH CANCER;

GENETIC PREDISPOSITION TO DISEASE; HUMANS; ISOCITRATE DEHYDROGENASE; MOUTH NEOPLASMS; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA;

EID: 84862819770     PISSN: 1607551X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.kjms.2011.10.023     Document Type: Article

References (44)

1. K.E. Yen, M.A. Bittinger, S.M. Su, and V.R. Fantin Cancer-associated IDH mutations: biomarker and therapeutic opportunities Oncogene 29 2010 6409 6417
2. L. Dang, S. Jin, and S.M. Su IDH mutations in glioma and acute myeloid leukemia Trends Mol Med 16 2010 387 397
3. F.E. Bleeker, S. Lamba, S. Leenstra, D. Troost, T. Hulsebos, and W.P. Vandertop IDH1 mutations at residue p.R132 (IDH1(R132)) occur frequently in high-grade gliomas but not in other solid tumors Hum Mutat 30 2009 7 11
4. T. Watanabe, S. Nobusawa, P. Kleihues, and H. Ohgaki IDH1 mutations are early events in the development of astrocytomas and oligodendrogliomas Am J Pathol 174 2009 1149 1153
5. H. Yan, D.W. Parsons, G. Jin, R. McLendon, B.A. Rasheed, and W. Yuan IDH1 and IDH2 mutations in gliomas N Engl J Med 360 2009 765 773
6. C. Hartmann, J. Meyer, J. Balss, D. Capper, W. Mueller, and A. Christians Type and frequency of IDH1 and IDH2 mutations are related to astrocytic and oligodendroglial differentiation and age: a study of 1,010 diffuse gliomas Acta Neuropathol 118 2009 469 474
7. L.A. Gravendeel, N.K. Kloosterhof, L.B. Bralten, R. van Marion, H.J. Dubbink, and W. Dinjens Segregation of non-p.R132H mutations in IDH1 in distinct molecular subtypes of glioma Hum Mutat 31 2010 E1186 E1199
8. D. Capper, S. Weissert, J. Balss, A. Habel, J. Meyer, and D. Jager Characterization of R132H mutation-specific IDH1 antibody binding in brain tumors Brain Pathol 20 2010 245 254
9. M.R. Kang, M.S. Kim, J.E. Oh, Y.R. Kim, S.Y. Song, and S.I. Seo Mutational analysis of IDH1 codon 132 in glioblastomas and other common cancers Int J Cancer 125 2009 353 355
10. J. Balss, J. Meyer, W. Mueller, A. Korshunov, C. Hartmann, and A. von Deimling Analysis of the IDH1 codon 132 mutation in brain tumors Acta Neuropathol 116 2008 597 602
11. K. Wagner, F. Damm, G. Gohring, K. Gorlich, M. Heuser, and I. Schafer Impact of IDH1 R132 mutations and an IDH1 single nucleotide polymorphism in cytogenetically normal acute myeloid leukemia: SNP rs11554137 is an adverse prognostic factor J Clin Oncol 28 2010 2356 2364
12. P.A. Ho, T.A. Alonzo, K.J. Kopecky, K.L. Miller, J. Kuhn, and R. Zeng Molecular alterations of the IDH1 gene in AML: a Children's Oncology Group and Southwest Oncology Group study Leukemia 24 2010 909 913
13. S. Gross, R.A. Cairns, M.D. Minden, E.M. Driggers, M.A. Bittinger, and H.G. Jang Cancer-associated metabolite 2-hydroxyglutarate accumulates in acute myelogenous leukemia with isocitrate dehydrogenase 1 and 2 mutations J Exp Med 207 2010 339 344
14. P.S. Ward, J. Patel, D.R. Wise, O. Abdel-Wahab, B.D. Bennett, and H.A. Coller The common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate Cancer Cell 17 2010 225 234
15. M. Andrulis, D. Capper, T. Luft, C. Hartmann, H. Zentgraf, and A. von Deimling Detection of isocitrate dehydrogenase 1 mutation R132H in myelodysplastic syndrome by mutation-specific antibody and direct sequencing Leuk Res 34 2010 1091 1093
16. O. Kosmider, V. Gelsi-Boyer, L. Slama, F. Dreyfus, O. Beyne-Rauzy, and B. Quesnel Mutations of IDH1 and IDH2 genes in early and accelerated phases of myelodysplastic syndromes and MDS/myeloproliferative neoplasms Leukemia 24 2010 1094 1096
17. A. Tefferi, T.L. Lasho, O. Abdel-Wahab, P. Guglielmelli, J. Patel, and D. Caramazza IDH1 and IDH2 mutation studies in 1473 patients with chronic-, fibrotic- or blast-phase essential thrombocythemia, polycythemia vera or myelofibrosis Leukemia 24 2010 1302 1309
18. J. Gaal, N. Burnichon, E. Korpershoek, I. Roncelin, J. Bertherat, and P.F. Plouin Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas J Clin Endocrinol Metab 95 2010 1274 1278
19. A.K. Murugan, E. Bojdani, and M. Xing Identification and functional characterization of isocitrate dehydrogenase 1 (IDH1) mutations in thyroid cancer Biochem Biophys Res Commun 393 2010 555 559
20. T. Sjoblom, S. Jones, L.D. Wood, D.W. Parsons, J. Lin, and T.D. Barber The consensus coding sequences of human breast and colorectal cancers Science 314 2006 268 274 (Pubitemid 44571966)
21. G. Marcucci, K. Maharry, Y.Z. Wu, M.D. Radmacher, K. Mrozek, and D. Margeson IDH1 and IDH2 gene mutations identify novel molecular subsets within de novo cytogenetically normal acute myeloid leukemia: a Cancer and Leukemia Group B study J Clin Oncol 28 2010 2348 2355
22. P. Paschka, R.F. Schlenk, V.I. Gaidzik, M. Habdank, J. Kronke, and L. Bullinger IDH1 and IDH2 mutations are frequent genetic alterations in acute myeloid leukemia and confer adverse prognosis in cytogenetically normal acute myeloid leukemia with NPM1 mutation without FLT3 internal tandem duplication J Clin Oncol 28 2010 3636 3643
23. F. Thol, F. Damm, K. Wagner, G. Gohring, B. Schlegelberger, and D. Hoelzer Prognostic impact of IDH2 mutations in cytogenetically normal acute myeloid leukemia Blood 116 2010 614 616
24. Y. Sonoda, T. Kumabe, T. Nakamura, R. Saito, M. Kanamori, and Y. Yamashita Analysis of IDH1 and IDH2 mutations in Japanese glioma patients Cancer Sci 100 2009 1996 1998
25. K.P. Chang, Y.T. Chang, C.T. Liao, T.C. Yen, I.H. Chen, and Y.L. Chang Prognostic cytokine markers in peripheral blood for oral cavity squamous cell carcinoma identified by multiplexed immunobead-based profiling Clin Chim Acta 412 2011 980 987
26. Y.J. Chen, J.T. Chang, C.T. Liao, H.M. Wang, T.C. Yen, and C.C. Chiu Head and neck cancer in the betel quid chewing area: recent advances in molecular carcinogenesis Cancer Sci 99 2008 1507 1514
27. G. Pitiyage, W.M. Tilakaratne, M. Tavassoli, and S. Warnakulasuriya Molecular markers in oral epithelial dysplasia: review J Oral Pathol Med 38 2009 737 752
28. J.R. Collins-Underwood, and C.G. Mullighan Genomic profiling of high-risk acute lymphoblastic leukemia Leukemia 24 2010 1676 1685
29. T.J. Ley, E.R. Mardis, L. Ding, B. Fulton, M.D. McLellan, and K. Chen DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome Nature 456 2008 66 72
30. E.R. Mardis, L. Ding, D.J. Dooling, D.E. Larson, M.D. McLellan, and K. Chen Recurring mutations found by sequencing an acute myeloid leukemia genome N Engl J Med 361 2009 1058 1666
31. W.C. Chou, H.A. Hou, C.Y. Chen, J.L. Tang, M. Yao, and W. Tsay Distinct clinical and biologic characteristics in adult acute myeloid leukemia bearing the isocitrate dehydrogenase 1 mutation Blood 115 2010 2749 2754
32. T.K. Er, W.C. Liang, J.G. Chang, and Y.J. Jong High resolution melting analysis facilitates mutation screening of ETFDH gene: applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency Clin Chim Acta 411 2010 690 699
33. C.W. Lin, T.K. Er, F.J. Tsai, T.C. Liu, P.Y. Shin, and J.G. Chang Development of a high-resolution melting method for the screening of Wilson disease-related ATP7B gene mutations Clin Chim Acta 411 2010 1223 1231
34. C.T. Wittwer, G.H. Reed, C.N. Gundry, J.G. Vandersteen, and R.J. Pryor High-resolution genotyping by amplicon melting analysis using LCGreen Clin Chem 49 2003 853 860 (Pubitemid 36623462)
35. K. Tajima, R.I. Aminov, T. Nagamine, H. Matsui, M. Nakamura, and Y. Benno Diet-dependent shifts in the bacterial population of the rumen revealed with real-time PCR Appl Environ Microbiol 67 2001 2766 2774 (Pubitemid 33639756)
36. J.L. Montgomery, L.N. Sanford, and C.T. Wittwer High-resolution DNA melting analysis in clinical research and diagnostics Expert Rev Mol Diagn 10 2010 219 240
37. L.V. Sequist, V.A. Joshi, P.A. Janne, D.W. Bell, P. Fidias, and N.I. Lindeman Epidermal growth factor receptor mutation testing in the care of lung cancer patients Clin Cancer Res 12 2006 4403s-8
38. A. Daskalos, U. Oleksiewicz, A. Filia, G. Nikolaidis, G. Xinarianos, and J.R. Gosney UHRF1-mediated tumor suppressor gene inactivation in nonsmall cell lung cancer Cancer 117 2011 1027 1037
39. C.R. Adkar-Purushothama, P.K. Maheshwar, T. Sano, and G.R. Janardhana A sensitive and reliable RT-nested PCR assay for detection of Citrus tristeza virus from naturally infected citrus plants Curr Microbiol 62 2011 1455 1459
40. C.H. Lin, K.T. Yeh, Y.S. Chang, N.C. Hsu, and J.G. Chang Rapid detection of epidermal growth factor receptor mutations with multiplex PCR and primer extension in lung cancer J Biomed Sci 17 2010 37
41. J. Li, and G.M. Makrigiorgos COLD-PCR: a new platform for highly improved mutation detection in cancer and genetic testing Biochem Soc Trans 37 2009 427 432
42. N. van der Stoep, C.D. van Paridon, T. Janssens, P. Krenkova, A. Stambergova, and M. Macek Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner Hum Mutat 30 2009 899 909
43. Y. Zou, Y. Zeng, D.F. Zhang, S.H. Zou, Y.F. Cheng, and Y.G. Yao IDH1 and IDH2 mutations are frequent in Chinese patients with acute myeloid leukemia but rare in other types of hematological disorders Biochem Biophys Res Commun 402 2010 378 383
44. D. Rakheja, M. Mitui, R.L. Boriack, and R.J. DeBerardinis Isocitrate dehydrogenase 1/2 mutational analyses and 2-hydroxyglutarate measurements in Wilms tumors Pediatr Blood Cancer 56 2011 379 383