Comprehensive analysis of genetic alterations and their prognostic impacts in adult acute myeloid leukemia patients

Leukemia

Volumn 28, Issue 8, 2014, Pages 1586-1595

  Kihara, R ^a   Nagata, Y ^b,c   Kiyoi, H ^a   Kato, T ^a   Yamamoto, E ^a   Suzuki, K ^a   Chen, F ^a   Asou, N ^d   Ohtake, S ^e   Miyawaki, S ^f   Miyazaki, Y ^g   Sakura, T ^h   Ozawa, Y ⁱ   Usui, N ^j   Kanamori, H ^k   Kiguchi, T ^l   Imai, K ^m   Uike, N ⁿ   Kimura, F ^o   Kitamura, K ^p   Nakaseko, C ^q   Onizuka, M ^r   Takeshita, A ^s   Ishida, F ^t   Suzushima, H ^u   Kato, Y ^v   Miwa, H ^w   Shiraishi, Y ^x   Chiba, K ^x   Tanaka, H ^x   Miyano, S ^x   Ogawa, S ^b,c   Naoe, T ^a,y   more..

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d KUMAMOTO UNIV SCHOOL OF MEDICINE   (Japan)

^e KANAZAWA UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCE   (Japan)

^f Tokyo Metropolitan Ohtsuka Hospital   (Japan)

^g NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

^h SAISEIKAI MAEBASHI HOSPITAL   (Japan)

ⁱ JAPANESE RED CROSS NAGOYA FIRST HOSPITAL   (Japan)

^j JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^k KANAGAWA CANCER CENTER   (Japan)

^l TOKYO MEDICAL UNIVERSITY   (Japan)

^m SAPPORO HOKUYU HOSPITAL   (Japan)

ⁿ NATIONAL KYUSHU CANCER CENTER   (Japan)

^o NATIONAL DEFENSE MEDICAL COLLEGE   (Japan)

^p Ichinomiya Municipal Hospital   (Japan)

^q CHIBA UNIVERSITY HOSPITAL   (Japan)

^r TOKAI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^s HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^t SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^u Kumamoto Shinto General Hospital   (Japan)

^v YAMAGATA UNIVERSITY   (Japan)

^w AICHI MEDICAL UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^x THE UNIVERSITY OF TOKYO   (Japan)

^y NATIONAL HOSPITAL ORGANIZATION NAGOYA MEDICAL CENTER   (Japan)

more..

Author keywords

acute myeloid leukemia; gene mutations; prognosis; risk factor

Indexed keywords

ADOLESCENT; ADULT; CCAAT-ENHANCER-BINDING PROTEINS; CYTOGENETICS; DISEASE-FREE SURVIVAL; FMS-LIKE TYROSINE KINASE 3; HUMANS; KARYOTYPE; LEUKEMIA, MYELOID, ACUTE; MIDDLE AGED; MUTATION; PROGNOSIS; PROTO-ONCOGENE PROTEINS C-KIT;

EID: 84905686309     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/leu.2014.55     Document Type: Article

References (45)

1. Estey E, Dohner H. Acute myeloid leukaemia. Lancet 2006; 368: 1894-1907.
2. Dohner H, Estey EH, Amadori S, Appelbaum FR, Buchner T, Burnett AK et al. Diagnosis and management of acute myeloid leukemia in adults: recommendations from an international expert panel, on behalf of the European LeukemiaNet. Blood 2010; 115: 453-474.
3. Koreth J, Schlenk R, Kopecky KJ, Honda S, Sierra J, Djulbegovic BJ et al. Allogeneic stem cell transplantation for acute myeloid leukemia in first complete remission: systematic review and meta-analysis of prospective clinical trials. JAMA 2009; 301: 2349-2361.
4. Grimwade D, Hills RK, Moorman AV, Walker H, Chatters S, Goldstone AH et al. Refinement of cytogenetic classification in acute myeloid leukemia: determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in the United Kingdom Medical Research Council trials. Blood 2010; 116: 354-365.
5. Patel JP, Gonen M, Figueroa ME, Fernandez H, Sun Z, Racevskis J et al. Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. N Engl J Med 2012; 366: 1079-1089.
6. Shen Y, Zhu YM, Fan X, Shi JY, Wang QR, Yan XJ et al. Gene mutation patterns and their prognostic impact in a cohort of 1185 patients with acute myeloid leukemia. Blood 2011; 118: 5593-5603.
7. Ofran Y, Rowe JM. Genetic profiling in acute myeloid leukaemia-where are we and what is its role in patient management. Br J Haematol 2013; 160: 303-320.
8. Delhommeau F, Dupont S, Della Valle V, James C, Trannoy S, Masse A et al. Mutation in TET2 in myeloid cancers. N Engl J Med 2009; 360: 2289-2301.
9. Langemeijer SM, Kuiper RP, Berends M, Knops R, Aslanyan MG, Massop M et al. Acquired mutations in TET2 are common in myelodysplastic syndromes. Nat Genet 2009; 41: 838-842.
10. Mardis ER, Ding L, Dooling DJ, Larson DE, McLellan MD, Chen K et al. Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med 2009; 361: 1058-1066.
11. Ley TJ, Ding L, Walter MJ, McLellan MD, Lamprecht T, Larson DE et al. DNMT3A mutations in acute myeloid leukemia. N Engl J Med 2010; 363: 2424-2433.
12. Nikoloski G, Langemeijer SM, Kuiper RP, Knops R, Massop M, Tonnissen ER et al. Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes. Nat Genet 2010; 42: 665-667.
13. Shih AH, Abdel-Wahab O, Patel JP, Levine RL. The role of mutations in epigenetic regulators in myeloid malignancies. Nat Rev Cancer 2012; 12: 599-612.
14. Chou WC, Huang HH, Hou HA, Chen CY, Tang JL, Yao M et al. Distinct clinical and biological features of de novo acute myeloid leukemia with additional sex comb-like 1 (ASXL1) mutations. Blood 2010; 116: 4086-4094.
15. Grossmann V, Tiacci E, Holmes AB, Kohlmann A, Martelli MP, Kern W et al. Whole-exome sequencing identifies somatic mutations of BCOR in acute myeloid leukemia with normal karyotype. Blood 2011; 118: 6153-6163.
16. Li M, Collins R, Jiao Y, Ouillette P, Bixby D, Erba H et al. Somatic mutations in the transcriptional corepressor gene BCORL1 in adult acute myelogenous leukemia. Blood 2011; 118: 5914-5917.
17. Welch JS, Ley TJ, Link DC, Miller CA, Larson DE, Koboldt DC et al. The origin and evolution of mutations in acute myeloid leukemia. Cell 2012; 150: 264-278.
18. Yoshida K, Sanada M, Shiraishi Y, Nowak D, Nagata Y, Yamamoto R et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature 2011; 478: 64-69.
19. Naoe T, Kiyoi H. Gene mutations of acute myeloid leukemia in the genome era. Int J Hematol 2013; 97: 165-174.
20. Rollig C, Bornhauser M, Thiede C, Taube F, Kramer M, Mohr B et al. Long-term prognosis of acute myeloid leukemia according to the new genetic risk classification of the European LeukemiaNet recommendations: evaluation of the proposed reporting system. J Clin Oncol 2011; 29: 2758-2765.
21. Mrozek K, Marcucci G, Nicolet D, Maharry KS, Becker H, Whitman SP et al. Prognostic significance of the European LeukemiaNet standardized system for reporting cytogenetic and molecular alterations in adults with acute myeloid leukemia. J Clin Oncol 2012; 30: 4515-4523.
22. Metzeler KH, Maharry K, Radmacher MD, Mrozek K, Margeson D, Becker H et al. TET2 mutations improve the new European LeukemiaNet risk classification of acute myeloid leukemia: a Cancer and Leukemia Group B study. J Clin Oncol 2011; 29: 1373-1381.
23. Miyawaki S. Clinical studies of acute myeloid leukemia in the Japan Adult Leukemia Study Group. Int J Hematol 2012; 96: 171-177.
24. Ohtake S, Miyawaki S, Fujita H, Kiyoi H, Shinagawa K, Usui N et al. Randomized study of induction therapy comparing standard-dose idarubicin with high-dose daunorubicin in adult patients with previously untreated acute myeloid leukemia: the JALSG AML201 Study. Blood 2011; 117: 2358-2365.
25. Miyawaki S, Ohtake S, Fujisawa S, Kiyoi H, Shinagawa K, Usui N et al. A randomized comparison of 4 courses of standard-dose multiagent chemotherapy versus 3 courses of high-dose cytarabine alone in postremission therapy for acute myeloid leukemia in adults: the JALSG AML201 Study. Blood 2011; 117: 2366-2372.
26. Bennett JM, Catovsky D, Daniel MT, Flandrin G, Galton DA, Gralnick HR et al. Proposed revised criteria for the classification of acute myeloid leukemia. A report of the French-American-British Cooperative Group. Ann Intern Med 1985; 103: 620-625.
27. Kiyoi H, Naoe T, Nakano Y, Yokota S, Minami S, Miyawaki S et al. Prognostic implication of FLT3 and N-RAS gene mutations in acute myeloid leukemia. Blood 1999; 93: 3074-3080.
28. Ozeki K, Kiyoi H, Hirose Y, Iwai M, Ninomiya M, Kodera Y et al. Biologic and clinical significance of the FLT3 transcript level in acute myeloid leukemia. Blood 2004; 103: 1901-1908.
29. Yamamoto Y, Kiyoi H, Nakano Y, Suzuki R, Kodera Y, Miyawaki S et al. Activating mutation of D835 within the activation loop of FLT3 in human hematologic malignancies. Blood 2001; 97: 2434-2439.
30. Osumi K, Fukui T, Kiyoi H, Kasai M, Kodera Y, Kudo K et al. Rapid screening of leukemia fusion transcripts in acute leukemia by real-time PCR. Leuk Lymphoma 2002; 43: 2291-2299.
31. Makishima H, Yoshida K, Nguyen N, Przychodzen B, Sanada M, Okuno Y et al. Somatic SETBP1 mutations in myeloid malignancies. Nat Genet 2013; 45: 942-946.
32. Kon A, Shih LY, Minamino M, Sanada M, Shiraishi Y, Nagata Y et al. Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms. Nat Genet 2013; 45: 1232-1237.
33. Sakaguchi H, Okuno Y, Muramatsu H, Yoshida K, Shiraishi Y, Takahashi M et al. Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia. Nat Genet 2013; 45: 937-941.
34. Ishikawa Y, Kiyoi H, Tsujimura A, Miyawaki S, Miyazaki Y, Kuriyama K et al. Comprehensive analysis of cooperative gene mutations between class I and class II in de novo acute myeloid leukemia. Eur J Haematol 2009; 83: 90-98.
35. Speck NA, Gilliland DG. Core-binding factors in haematopoiesis and leukaemia. Nat Rev Cancer 2002; 2: 502-513.
36. Swerdlow S, Campo E, Harris N, Jaffe E, Pileri S, Stein H et al. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. 4th edn. WHO Press: Lyon, 2008.
37. Vardiman JW, Thiele J, Arber DA, Brunning RD, Borowitz MJ, Porwit A et al. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood 2009; 114: 937-951.
38. Abdel-Wahab O, Levine RL. Mutations in epigenetic modifiers in the pathogenesis and therapy of acute myeloid leukemia. Blood 2013; 121: 3563-3572.
39. Grossmann V, Schnittger S, Kohlmann A, Eder C, Roller A, Dicker F et al. A novel hierarchical prognostic model of AML solely based on molecular mutations. Blood 2012; 120: 2963-2972.
40. Cancer Genome Atlas Research N. Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med 2013; 368: 2059-2074.
41. Tang JL, Hou HA, Chen CY, Liu CY, Chou WC, Tseng MH et al. AML1/RUNX1 mutations in 470 adult patients with de novo acute myeloid leukemia: prognostic implication and interaction with other gene alterations. Blood 2009; 114: 5352-5361.
42. Stone RM. Acute myeloid leukemia in first remission: to choose transplantation or not? J Clin Oncol 2013; 31: 1262-1266.
43. Paschka P, Schlenk RF, Gaidzik VI, Habdank M, Kronke J, Bullinger L et al. 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 2010; 28: 3636-3643.
44. Dufour A, Schneider F, Metzeler KH, Hoster E, Schneider S, Zellmeier E et al. Acute myeloid leukemia with biallelic CEBPA gene mutations and normal karyotype represents a distinct genetic entity associated with a favorable clinical outcome. J Clin Oncol 2010; 28: 570-577.
45. Krzywinski M, Schein J, Birol I, Connors J, Gascoyne R, Horsman D et al. Circos: an information aesthetic for comparative genomics. Genome Res 2009; 19: 1639-1645.