Cooperating gene mutations in childhood acute myeloid leukemia with special reference on mutations of ASXL1, TET2, IDH1, IDH2, and DNMT3A

Blood

Volumn 121, Issue 15, 2013, Pages 2988-2995

  Liang, Der Cherng ^a   Liu, Hsi Che ^a   Yang, Chao Ping ^b   Jaing, Tang Her ^b   Hung, Iou Jih ^b   Yeh, Ting Chi ^a   Chen, Shih Hsiang ^b   Hou, Jen Yin ^a   Huang, Ying Jung ^c   Shih, Yu Shu ^d   Huang, Yu Hui ^d   Lin, Tung Huei ^d   Shih, Lee Yung ^c,d  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b CHANG GUNG CHILDREN S HOSPITAL   (Taiwan)

^c CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^d CHANG GUNG UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

CCAAT ENHANCER BINDING PROTEIN ALPHA; DNA METHYLTRANSFERASE 3A; FLT3 LIGAND; ISOCITRATE DEHYDROGENASE 1; ISOCITRATE DEHYDROGENASE 2; JANUS KINASE 2; MIXED LINEAGE LEUKEMIA PROTEIN; NUCLEOPHOSMIN; PROTEIN P53; PROTEIN TYROSINE PHOSPHATASE SHP 2; TRANSCRIPTION FACTOR RUNX1; WT1 PROTEIN; ASXL1 PROTEIN, HUMAN; DNA (CYTOSINE 5) METHYLTRANSFERASE; DNA BINDING PROTEIN; IDH1 PROTEIN, HUMAN; ISOCITRATE DEHYDROGENASE; ISOCITRATE DEHYDROGENASE 2, HUMAN; ONCOPROTEIN; REPRESSOR PROTEIN; TET2 PROTEIN, HUMAN;

ACUTE GRANULOCYTIC LEUKEMIA; ADDITIONAL SEX COMB LIKE 1 GENE; ADOLESCENT; ARTICLE; C FMS GENE; CHILD; CHILDHOOD LEUKEMIA; CONTROLLED STUDY; DNA METHYLTRANSFERASE 3A GENE; EPIGENETICS; FEMALE; FLT3 GENE; GENE; GENE DUPLICATION; GENE MUTATION; GENE P53; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; HUMAN CELL; INTERNAL TANDEM DUPLICATION; ISOCITRATE DEHYDROGENASE 1 GENE; ISOCITRATE DEHYDROGENASE 2 GENE; JANUS KINASE 2 GENE; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MIXED LINEAGE LEUKEMIA GENE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOPHOSMIN GENE; ONCOGENE C KIT; ONCOGENE K RAS; ONCOGENE N RAS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN TYROSINE PHOSPHATASE SHP 2 GENE; REGULATOR GENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SOMATIC MUTATION; TET2 GENE; TRANSCRIPTION FACTOR RUNX1 GENE; WT1 GENE; ACUTE DISEASE; ADULT; DISEASE FREE SURVIVAL; GENETICS; INFANT; MUTATION; MUTATION RATE; MYELOID LEUKEMIA; NEWBORN; NUCLEOTIDE SEQUENCE; PROGNOSIS;

ACUTE DISEASE; ADOLESCENT; CHILD; CHILD, PRESCHOOL; DISEASE-FREE SURVIVAL; DNA (CYTOSINE-5-)-METHYLTRANSFERASE; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; ISOCITRATE DEHYDROGENASE; LEUKEMIA, MYELOID; MALE; MUTATION; MUTATION RATE; PROGNOSIS; PROTO-ONCOGENE PROTEINS; REPRESSOR PROTEINS; YOUNG ADULT;

MLCS; MLOWN;

EID: 84879431557     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2012-06-436782     Document Type: Article

References (50)

1. Cho YS, Kim EJ, Park UH, et al. Additional sex comb-like 1 (ASXL1), in cooperation with SRC-1, acts as a ligand-dependent coactivator for retinoic acid receptor. J Biol Chem. 2006;281(26):17588-17598.
2. Fisher CL, Pineault N, Brookes C, et al. Loss-of-function Additional sex combs like 1 mutations disrupt hematopoiesis but do not cause severe myelodysplasia or leukemia. Blood. 2010;115(1):38-46.
3. Abdel-Wahab O, Adli M, LaFave LM, et al. ASXL1 mutations promote myeloid transformation through loss of PRC2-mediated gene repression. Cancer Cell. 2012;22(2):180-193.
4. Chou WC, Huang HH, Hou HA, et al. Distinct clinical and biological features of de novo acute myeloid leukemia with additional sex comb-like 1 (ASXL1) mutations. Blood. 2010;116(20):4086-4094.
5. Pratcorona M, Abbas S, Sanders MA, et al. Acquired mutations in ASXL1 in acute myeloid leukemia: prevalence and prognostic value. Haematologica. 2012;97(3):388-392.
6. Tahiliani M, Koh KP, Shen Y, et al. Conversion of 5-methylcytosine to 5-hydroxymethylcytosine in mammalian DNA by MLL partner TET1. Science. 2009;324(5929):930-935.
7. Ko M, Huang Y, Jankowska AM, et al. Impaired hydroxylation of 5-methylcytosine in myeloid cancers with mutant TET2. Nature. 2010;468(7325):839-843.
8. Figueroa ME, Abdel-Wahab O, Lu C, et al. Leukemic IDH1 and IDH2 mutations result in a hypermethylation phenotype, disrupt TET2 function, and impair hematopoietic differentiation. Cancer Cell. 2010;18(6):553-567.
9. Xu W, Yang H, Liu Y, et al. Oncometabolite 2-hydroxyglutarate is a competitive inhibitor of a-ketoglutarate-dependent dioxygenases. Cancer Cell. 2011;19(1):17-30.
10. Delhommeau F, Dupont S, Della Valle V, et al. Mutation in TET2 in myeloid cancers. N Engl J Med. 2009;360(22):2289-2301.
11. Langemeijer SM, Kuiper RP, Berends M, et al. Acquired mutations in TET2 are common in myelodysplastic syndromes. Nat Genet. 2009;41(7):838-842.
12. Shih AH, Abdel-Wahab O, Patel JP, et al. The role of mutations in epigenetic regulators in myeloid malignancies. Nat Rev Cancer. 2012;12(9):599-612.
13. Kutny MA, Alonzo TA, Gerbing RB, et al. TET2 SNP rs2454206 (I1762V) correlates with improved survival in pediatric acute myelogenous leukemia, a report from the Children's Oncology Group. Blood. 2010;116(21):418a. Abstract 949.
14. Mardis ER, Ding L, Dooling DJ, et al. Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med. 2009;361(11):1058- 1066.
15. Ward PS, Patel J,Wise DR, et al. The common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate. Cancer Cell. 2010;17(3):225-234.
16. Ho PA, Alonzo TA, Kopecky KJ, et al. Molecular alterations of the IDH1 gene in AML: a Children's Oncology Group and Southwest Oncology Group study. Leukemia. 2010;24(5):909-913.
17. Andersson AK, Miller DW, Lynch JA, et al. IDH1 and IDH2 mutations in pediatric acute leukemia. Leukemia. 2011;25(10):1570-1577.
18. Damm F, Thol F, Hollink I, et al. Prevalence and prognostic value of IDH1 and IDH2 mutations in childhood AML: a study of the AML-BFM and DCOG study groups. Leukemia. 2011;25(11):1704-1710.
19. Ley TJ, Ding L, Walter MJ, et al. DNMT3A mutations in acute myeloid leukemia. N Engl J Med. 2010;363(25):2424-2433.
20. Ho PA, Kutny MA, Alonzo TA, et al. Leukemic mutations in the methylation-associated genes DNMT3A and IDH2 are rare events in pediatric AML: a report from the Children's Oncology Group. Pediatr Blood Cancer. 2011;57(2):204-209.
21. Thol F, Heuser M, Damm F, et al. DNMT3A mutations are rare in childhood acute myeloid leukemia. Haematologica. 2011;96(8):1238-1240.
22. Hollink IH, Feng Q, Danen-van Oorschot AA, et al. Low frequency of DNMT3A mutations in pediatric AML, and the identification of the OCI-AML3 cell line as an in vitro model. Leukemia. 2012;26(2):371-373.
23. Shih LY, Liang DC, Huang CF, et al. Cooperating mutations of receptor tyrosine kinases and Ras genes in childhood core-binding factor acute myeloid leukemia and a comparative analysis on paired diagnosis and relapse samples. Leukemia. 2008;22(2):303-307.
24. Liang DC, Shih LY, Yang CP, et al. Molecular analysis of fusion transcripts in childhood acute myeloid leukemia in Taiwan. Med Pediatr Oncol. 2001;37(6):555-556.
25. Shih LY, Liang DC, Fu JF, et al. Characterization of fusion partner genes in 114 patients with de novo acute myeloid leukemia and MLL rearrangement. Leukemia. 2006;20(2):218-223.
26. Liang DC, Chan TT, Lin KH, et al. Improved treatment results for childhood acute myeloid leukemia in Taiwan. Leukemia. 2006;20(1):136-141.
27. Sanz MA, Martín G, Rayón C, et al. A modified AIDA protocol with anthracycline-based consolidation results in high antileukemic efficacy and reduced toxicity in newly diagnosed PML/RARalpha-positive acute promyelocytic leukemia. PETHEMA group. Blood. 1999;94(9):3015-3021. (Pubitemid 29512705)
28. Shih LY, Huang CF, Wu JH, et al. Internal tandem duplication of FLT3 in relapsed acute myeloid leukemia: a comparative analysis of bone marrow samples from 108 adult patients at diagnosis and relapse. Blood. 2002;100(7):2387-2392.
29. Liang DC, Shih LY, Hung IJ, et al. FLT3-TKD mutation in childhood acute myeloid leukemia. Leukemia. 2003;17(5):883-886.
30. Kuo MC, Liang DC, Huang CF, et al. RUNX1 mutations are frequent in chronic myelomonocytic leukemia and mutations at the C-terminal region might predict acute myeloid leukemia transformation. Leukemia. 2009;23(8):1426-1431.
31. Liang DC, Shih LY, Huang CF, et al. CEBPalpha mutations in childhood acute myeloid leukemia. Leukemia. 2005;19(3):410-414.
32. Gelsi-Boyer V, Trouplin V, Adélaïde J, et al. Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. Br J Haematol. 2009;145(6):788-800.
33. Shih LY, Kuo MC, Kuo CY, et al. Emerging kinetics of BCR-ABL1 mutations and their effect on disease outcomes in chronic myeloid leukemia patients with imatinib failure. Leuk Res. 2013;37(1):43-49.
34. King-Underwood L, Renshaw J, Pritchard-Jones K. Mutations in the Wilms' tumor gene WT1 in leukemias. Blood. 1996;87(6):2171-2179.
35. Christiansen DH, Andersen MK, Pedersen-Bjergaard J. Mutations with loss of heterozygosity of p53 are common in therapy-related myelodysplasia and acute myeloid leukemia after exposure to alkylating agents and significantly associated with deletion or loss of 5q, a complex karyotype, and a poor prognosis. J Clin Oncol. 2001;19(5):1405-1413. (Pubitemid 32202547)
36. Baxter EJ, Scott LM, Campbell PJ, et al Cancer Genome Project. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005;365(9464):1054-1061. (Pubitemid 40386783)
37. Falini B, Mecucci C, Tiacci E, et al. GIMEMA Acute Leukemia Working Party. Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype. N Engl J Med. 2005;352(3):254-266. (Pubitemid 40110814)
38. Tartaglia M, Kalidas K, Shaw A, et al. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet. 2002;70(6):1555-1563. (Pubitemid 34533902)
39. Chou WC, Chou SC, Liu CY, et al. TET2 mutation is an unfavorable prognostic factor in acute myeloid leukemia patients with intermediate-risk cytogenetics. Blood. 2011;118(14):3803-3810.
40. Liang DC, Shih LY, Hung IJ, et al. Clinical relevance of internal tandem duplication of the FLT3 gene in childhood acute myeloid leukemia. Cancer. 2002;94(12):3292-3298.
41. Meshinchi S, Alonzo TA, Stirewalt DL, et al. Clinical implications of FLT3 mutations in pediatric AML. Blood. 2006;108(12):3654-3661. (Pubitemid 44864541)
42. Ho PA, Alonzo TA, Gerbing RB, et al. Prevalence and prognostic implications of CEBPA mutations in pediatric acute myeloid leukemia (AML): a report from the Children's Oncology Group. Blood. 2009;113(26):6558-6566.
43. Brown P, McIntyre E, Rau R, et al. The incidence and clinical significance of nucleophosmin mutations in childhood AML. Blood. 2007;110(3):979-985. (Pubitemid 47267437)
44. Radtke I, Mullighan CG, Ishii M, et al. Genomic analysis reveals few genetic alterations in pediatric acute myeloid leukemia. Proc Natl Acad Sci USA. 2009;106(31):12944-12949.
45. Thol F, Damm F, Lüdeking A, et al. Incidence and prognostic influence of DNMT3A mutations in acute myeloid leukemia. J Clin Oncol. 2011;29(21):2889-2896.
46. Piekarz RL, Bates SE. Epigenetic modifiers: basic understanding and clinical development. Clin Cancer Res. 2009;15(12):3918-3926.
47. Yan XJ, Xu J, Gu ZH, et al. Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia. Nat Genet. 2011;43(4):309-315.
48. Kelly LM, Gilliland DG. Genetics of myeloid leukemias. Annu Rev Genomics Hum Genet. 2002;3:179-198. (Pubitemid 35217435)
49. Renneville A, Roumier C, Biggio V, et al. Cooperating gene mutations in acute myeloid leukemia: a review of the literature. Leukemia. 2008;22(5):915-931. (Pubitemid 351709343)
50. Rosenbauer F, Tenen DG. Transcription factors in myeloid development: balancing differentiation with transformation. Nat Rev Immunol. 2007;7(2):105-117. (Pubitemid 46174858)