Mutations in KIT and RAS are frequent events in pediatric core-binding factor acute myeloid leukemia

Leukemia

Volumn 19, Issue 9, 2005, Pages 1536-1542

  Goemans, B F ^a   Zwaan, Ch M ^a,g   Miller, M ^b   Zimmermann, M ^c   Harlow, A ^b   Meshinchi, S ^d   Loonen, A H ^a   Hahlen K ^e,g   Reinhardt, D ^f   Creutzig, U ^f   Kaspers, G J L ^a   Heinrich, M C ^b  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c HANNOVER MEDICAL SCHOOL   (Germany)

^d Fred Hutchinson Cancer Research Center   (United States)

^e DUTCH CHILDHOOD ONCOLOGY GROUP   (Netherlands)

^f AML BFM Study Group   (Germany)

^g SOPHIA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

AML; CBF; Exon 8; KIT; Pediatric; RAS

Indexed keywords

ANTHRACYCLINE DERIVATIVE; ASPARAGINASE; CORE BINDING FACTOR; CYTARABINE; DAUNORUBICIN; ETOPOSIDE; FLT3 LIGAND; IDARUBICIN; IMATINIB; K RAS PROTEIN; MITOXANTRONE; PROTEIN KIT; PROTEIN TYROSINE KINASE; RAS PROTEIN; UNCLASSIFIED DRUG; ANTINEOPLASTIC AGENT; CD135 ANTIGEN; FLT3 PROTEIN, HUMAN; ONCOPROTEIN; PIPERAZINE DERIVATIVE; PYRIMIDINE DERIVATIVE; STEM CELL FACTOR RECEPTOR; TRANSCRIPTION FACTOR; TUMOR PROTEIN;

ACUTE GRANULOCYTIC LEUKEMIA; ADOLESCENT; ADULT; ARTICLE; CANCER PATIENT; CHILD; CLINICAL STUDY; CLINICAL TRIAL; COHORT ANALYSIS; CONCENTRATION RESPONSE; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; ENZYME ACTIVATION; ENZYME INHIBITION; EXON; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE; HUMAN; INFANT; KARYOTYPE; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN TARGETING; SIGNAL TRANSDUCTION; STATISTICAL SIGNIFICANCE; TREATMENT OUTCOME; ACUTE DISEASE; ANIMAL; BIOSYNTHESIS; CHO CELL; CHROMOSOME ANALYSIS; DRUG EFFECT; FOLLOW UP; GENETICS; HAMSTER; MUTATION; MYELOID LEUKEMIA; NEWBORN; ONCOGENE RAS; PRESCHOOL CHILD; RETROSPECTIVE STUDY; SURVIVAL;

ACUTE DISEASE; ADOLESCENT; ANIMALS; ANTINEOPLASTIC COMBINED CHEMOTHERAPY PROTOCOLS; CHILD; CHILD, PRESCHOOL; CHO CELLS; CORE BINDING FACTORS; CRICETINAE; CYTOGENETIC ANALYSIS; EXONS; FMS-LIKE TYROSINE KINASE 3; FOLLOW-UP STUDIES; GENES, RAS; HUMANS; INFANT; INFANT, NEWBORN; LEUKEMIA, MYELOID; MUTATION; NEOPLASM PROTEINS; PIPERAZINES; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-KIT; PYRIMIDINES; RECEPTOR PROTEIN-TYROSINE KINASES; RETROSPECTIVE STUDIES; SURVIVAL ANALYSIS; TRANSCRIPTION FACTORS; TREATMENT OUTCOME;

EID: 26944447953     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/sj.leu.2403870     Document Type: Article

References (48)

1. Creutzig U, Ritter J, Zimmermann M, Hermann J, Gadner H, Sawatzki DB et al. Idarubicin improves blast cell clearance during induction therapy in children with AML: Results of study AML-BFM 93. AML-BFM Study Group. Leukemia 2001; 15: 348-354.
2. Woods WG, Neudorf S, Gold S, Sanders J, Buckley JD, Barnard DR et al. A comparison of allogeneic bone marrow transplantation, autologous bone marrow transplantation, and aggressive chemotherapy in children with acute myeloid leukemia in remission. Blood 2001; 97: 56-62.
3. Hann IM, Webb DK, Gibson BE, Harrison CJ. MRC trials in childhood acute myeloid leukaemia. Ann Hematol 2004; 83 (Suppl. 1): S108-S112.
4. Perel Y, Auvrignon A, Leblanc T, Vannier JP, Michel G, Nelken B et al. Impact of addition of maintenance therapy to intensive induction and consolidation chemotherapy for childhood acute myeloblastic leukemia: results of a prospective randomized trial, LAME 89/91. Leucamie Aique Myeioide Enfant. J Clin Oncol 2002; 20: 2774-2782.
5. Grimwade D, Walker H, Oliver F, Wheatley K, Harrison C, Harrison G et al. The importance of diagnostic cytogenetics on outcome in AML: analysis of 1612 patients entered into the MRC AML 10 trial. The Medical Research Council Adult and Children's Leukaemia Working Parties. Blood 1998; 92: 2322-2333.
6. Yuan Y, Zhou L, Miyamoto T, Iwasaki H, Harakawa N, Hetherington CJ et al. AML1-ETO expression is directly involved in the development of acute myeloid leukemia in the presence of additional mutations. Proc Natl Acad Sci USA 2001; 98: 10398-10403.
7. Kelly LM, Kutok JL, Williams IR, Boulton CL, Amaral SM, Curley DP et al. PML/RARalpha and FLT3-ITD induce an APL-like disease in a mouse model. Proc Natl Acad Sci USA 2002; 99: 8283-8288.
8. Grisolano JL, O'Neal J, Cain J, Tomasson MH. An activated receptor tyrosine kinase, TEL/PDGFbetaR, cooperates with AML1/ETO to induce acute myeloid leukemia in mice. Proc Natl Acad Sci USA 2003; 100: 9506-9511.
9. Castilla LH, Garrett L, Adya N, Orlic D, Dutra A, Anderson S et al. The fusion gene Cbfb-MYH11 blocks myeloid differentiation and predisposes mice to acute myelomonocytic leukaemia. Nat Genet 1999; 23: 144-146.
10. Hart SM, Foroni L. Core binding factor genes and human leukemia. Haematologica 2002; 87: 1307-1323.
11. Kitayama H, Tsujimura T, Matsumura I, Oritani K, Ikeda H, Ishikawa J et al. Neoplastic transformation of normal hematopoietic cells by constitutively activating mutations of c-kit receptor tyrosine kinase. Blood 1996; 88: 995-1004.
12. Janssen JW, Steenvoorden AC, Collard JG, Nusse R. Oncogene activation in human myeloid leukemia. Cancer Res 1985; 45: 3262-3267.
13. Hayakawa F, Towatari M, Kiyoi H, Tanimoto M, Kitamura T, Saito H et al. Tandem-duplicated Flt3 constitutively activates STAT5 and MAP kinase and introduces autonomous cell growth in IL-3-dependent cell lines. Oncogene 2000; 19: 624-631.
14. Chan IT, Gilliland DG. Oncogenic K-ras in mouse models of myeloproliferative disease and acute myeloid leukemia. Cell Cycle 2004; 3: 536-537.
15. Heinrich MC, Blanke CD, Druker BJ, Corless CL. Inhibition of KIT tyrosine kinase activity: A novel molecular approach to the treatment of KIT-positive malignancies. J Clin Oncol 2002; 20: 1692-1703.
16. Furitsu T, Tsujimura T, Tono T, Ikeda H, Kitayama H, Koshimizu U et al. Identification of mutations in the coding sequence of the proto-oncogene c-kit in a human mast cell leukemia cell line causing ligand-independent activation of c-kit product. J Clin Invest 1993; 92: 1736-1744.
17. Gari M, Goodeve A, Wilson G, Winship P, Langabeer S, Linch D et al. c-kit proto-oncogene exon 8 in-frame deletion plus insertion mutations in acute myeloid leukaemia. Br J Haematol 1999; 105: 894-900.
18. Hirota S, Isozaki K, Moriyama Y, Hashimoto K, Nishida T, Ishiguro S et al. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science 1998; 279: 577-580.
19. Kemmer K, Corless CL, Fletcher JA, McGreevey L, Haley A, Griffith D et al. KIT mutations are common in testicular seminomas. Am J Pathol 2004; 164: 305-313.
20. Bos JL. ras oncogenes in human cancer: A review. Cancer Res 1989; 49: 4682-4689.
21. Radich JP, Kopecky KJ, Willman CL, Weick J, Head D, Appelbaum F et al. N-ras mutations in adult de novo acute myelogenous leukemia: Prevalence and clinical significance. Blood 1990; 76: 801-807.
22. Neubauer A, Dodge RK, George SL, Davey FR, Silver RT, Schiffer CA et al. Prognostic importance of mutations in the ras protooncogenes in de novo acute myeloid leukemia. Blood 1994; 83: 1603-1611.
23. Wang YY, Zhou GB, Yin T, Chen B, Shi JY, Liang WX et al. AML 1-ETO and C-KIT mutation/overexpression in t(8;21) leukemia: Implication in stepwise leukemogenesis and response to Gleevec. Proc Natl Acad Sci USA 2005; 102: 1104-1109.
24. Zwaan CM, Meshinchi S, Radich JP, Veerman AJ, Huismans DR, Munske L et al. FLT3 internal tandem duplication in 234 children with acute myeloid leukemia: Prognostic significance and relation to cellular drug resistance. Blood 2003; 102: 2387-2394.
25. Creutzig U, Zimmermann M, Ritter J, Henze G, Graf N, Loffler H et al. Definition of a standard-risk group in children with AML. Br J Haematol 1999; 104: 630-639.
26. Creutzig U, Harbott J, Sperling C, Ritter J, Zimmermann M, Loffler H et al. Clinical significance of surface antigen expression in children with acute myeloid leukemia: Results of study AML-BFM-87. Blood 1995; 86: 3097-3108.
27. Slats AM, Egeler RM, van der Does-van den Berg A, Korbijn C, Hahlen K, Kamps WA et al. Causes of death - other than progressive leukemia - in childhood acute lymphoblastic (ALL) and myeloid leukemia (AML): The Dutch Childhood Oncology Group experience. Leukemia 2005; 19: 537-544.
28. Corless CL, McGreevey L, Haley A, Town A, Heinrich MC. KIT mutations are common in incidental gastrointestinal stromal tumors one centimeter or less in size. Am J Pathol 2002; 160: 1567-1572.
29. Cruz III F, Rubin BP, Wilson D, Town A, Schroeder A, Haley A et al. Absence of BRAF and NRAS mutations in uveal melanoma. Cancer Res 2003; 63: 5761-5766.
30. Heinrich MC, Corless CL, Demetri GD, Blanke CD, von Mehren M, Joensuu H et al. Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. J Clin Oncol 2003; 21: 4342-4349.
31. Cheson BD, Cassileth PA, Head DR, Schiffer CA, Bennett JM, Bloomfield CD et al. Report of the National Cancer Institute-sponsored workshop on definitions of diagnosis and response in acute myeloid leukemia. J Clin Oncol 1990; 8: 813-819.
32. Beghini A, Peterlongo P, Ripamonti CB, Larizza L, Cairoli R, Morra E et al. C-kit mutations in core binding factor leukemias. Blood 2000; 95: 726-727.
33. Care RS, Valk PJ, Goodeve AC, Abu-Duhier FM, Geertsma-Kleinekoort WM, Wilson GA et al. Incidence and prognosis of c-KIT and FLT3, mutations in core binding factor (CBF) acute myeloid leukaemias. Br J Haematol 2003; 121: 775-777.
34. Ning ZQ, Li J, Arceci RJ. Activating mutations of c-kit at codon 816 confer drug resistance in human leukemia cells. Leuk Lymphoma 2001; 41: 513-522.
35. Meshinchi S, Stirewalt DL, Alonzo TA, Zhang Q, Sweetser DA, Woods WG et al. Activating mutations of RTK/ras signal transduction pathway in pediatric acute myeloid leukemia. Blood 2003; 102: 1474-1479.
36. 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.
37. Nakagawa T, Saitoh S, Imoto S, Itoh M, Tsutsumi M, Hikiji K et al. Multiple point mutation of N-ras and K-ras oncogenes in myelodysplastic syndrome and acute myelogenous leukemia. Oncology 1992; 49: 114-122.
38. Mahgoub N, Parker RI, Hosler MR, Close P, Winick NJ, Masterson M et al. RAS mutations in pediatric leukemias with MLL gene rearrangements. Genes Chromosomes Cancer 1998; 21: 270-275.
39. Farr C, Gill R, Katz F, Gibbons B, Marshall CJ. Analysis of ras gene mutations in childhood myeloid leukaemia: Br J Haematol 1991; 77: 323-327.
40. Vogelstein B, Civin CI, Preisinger AC, Krischer JP, Steuber P, Ravindranath Y et al. RAS gene mutations in childhood acute myeloid leukemia: A Pediatric Oncology Group study. Genes Chromosomes Cancer 1990; 2: 159-162.
41. Lubbert M, Mirro Jr J, Kitchingman G, McCormick F, Mertelsmann R, Herrmann F et al. Prevalence of N-ras mutations in children with myelodysplastic syndromes and acute myeloid leukemia. Oncogene 1992; 7: 263-268.
42. Sheng XM, Kawamura M, Ohnishi H, Ida K, Hanada R, Kojima S et al. Mutations of the RAS genes in childhood acute myeloid leukemia, myelodysplastic syndrome and juvenile chronic myelocytic leukemia. Leuk Res 1997; 21: 697-701.
43. Gilliland DG, Griffin JD. Role of FLT3 in leukemia. Curr Opin Hematol 2002; 9: 274-281.
44. Cairoli R, Grillo G, Beghini A, Tedeschi A, Ripamonti CB, Larizza L et al. C-Kit point mutations in core binding factor leukemias: Correlation with white blood cell count and the white blood cell index. Leukemia 2003; 17: 471-472.
45. Beghini A, Cairoli R, Morra E, Larizza L. In vivo differentiation of mast cells from acute myeloid leukemia blasts carrying a novel activating ligand-independent C-kit mutation. Blood Cells Mol Dis 1998; 24: 262-270.
46. Heinrich MC, Griffith DJ, Druker BJ, Wait CL, Ott KA, Zigler AJ. Inhibition of c-kit receptor tyrosine kinase activity by STI 571, a selective tyrosine kinase inhibitor. Blood 2000; 96: 925-932.
47. Growney JD, Clark JJ, Adelsperger J, Stone R, Fabbro D, Griffin JD et al. Activation mutations of human c-KIT resistant to imatinib are sensitive to the tyrosine kinase inhibitor PKC412. Blood 2005, Mar 24 [E-pub ahead of print].
48. Kohl TM, Schnittger S, Ellwart JW, Hiddemann W, Spiekermann K. KIT exon 8 mutations associated with core-binding factor (CBF)-acute myeloid leukemia (AML) cause hyperactivation of the receptor in response to stem cell factor. Blood 2005; 105: 3319-3321.