Detection of KIT and FLT3 mutations in acute myeloid leukemia with different subtypes

Archives of Iranian Medicine

Volumn 13, Issue 1, 2010, Pages 21-25

  Zaker, Farhad ^a   Mohammadzadeh, Mohammad ^a   Mohammadi, Mohammad ^b  

^a IRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b IRANIAN BLOOD TRANSFUSION ORGANIZATION   (Iran)

Author keywords

Acute myeloid leukemia; CSGE; Mutations; PCR

Indexed keywords

CD135 ANTIGEN; STEM CELL FACTOR RECEPTOR;

ACUTE GRANULOCYTIC LEUKEMIA; ADULT; AGED; ARTICLE; BLOOD SAMPLING; EXON; FEMALE; GEL ELECTROPHORESIS; GENE DUPLICATION; GENE MUTATION; HUMAN; IRAN; LEUKEMOGENESIS; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ADOLESCENT; ADULT; AGED; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FMS-LIKE TYROSINE KINASE 3; HUMANS; LEUKEMIA, MYELOID, ACUTE; MALE; MIDDLE AGED; MUTATION; PROTO-ONCOGENE PROTEINS C-KIT; YOUNG ADULT;

EID: 74949105718     PISSN: 10292977     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (33)

1. Kahler C, Didlaukat S, Feller AC, Merz H. Sensitive and reliable detection of KIT point mutation Asp 816 to Val in pathological material. Diag Pathol. 2007; 2: 37-41.
2. Liu H, Chen X, Focia PJ, He X. Structural basis for stem cell factor-KIT signaling and activation of class III receptor tyrosine kinases. EMBO J. 2007; 26: 891-901.
3. Stirewalt DL, Radich JP. The role of FLT3 in haematopoietic malignancies. Nat Rev Cancer. 2003; 3: 650-655.
4. Birg F, Rosnet O, Carbuccia N, Birnbaum D. The expression of FMS, KIT and FLT3 in hematopoietic malignancies. Leuk Lymphoma. 1994; 13: 223-227.
5. Gilliland DG, Griffin JD. Role of FLT3 in leukemia. Curr Opin Hematol. 2002; 9: 274-281.
6. Piacibello W, Fubini L, Sanavio F, Brizzi MF, Severino A, Garetto L, et al. Effects of human FLT3 ligand on myeloid leukemia cell growth: heterogeneity in response and synergy with other hematopoietic growth factors. Blood. 1995; 86: 4105-4114.
7. Skorski T. Oncogenic tyrosine kinases and the DNA damage response. Nat Rev Cancer. 2002; 2: 351-360.
8. Zwaan CM, Kaspers GJL, Pieters R, Ramakers-Van Woerden NL, den Boer ML, Wünsche R, et al. Cellular drug resistance profiles in childhood acute myeloid leukemia: differences between FAB-types and comparison with acute lymphoblastic leukemia. Blood. 2000; 96: 2879-2886.
9. Kiyoi H, Towatari M, Yokota S, Hamaguchi M, Ohno R, Saito H, et al. Internal tandem duplication of the FLT3 gene is a novel modality of elongation mutation which causes constitutive activation of the product. Leukemia. 1998; 12: 1333-1337.
10. Mizuki M, Fenski R, Halfter H, Matsumura I, Schmidt R, Müller C, et al. FLT3 mutations from patients with acute myeloid leukemia induce transformation of 32D cells mediated by the Ras and STAT5 pathways. Blood. 2000; 96: 3907-3914.
11. Moriyama Y, Tsujimura T, Hashimoto K, Morimoto M, Kitayama H, Matsuzawa Y, et al. Role of aspartic acid 814 in the function and expression of KIT receptor tyrosine kinase. J Biol Chem. 1996; 271: 3347-3350.
12. Gilliland DG, Griffin JD. The roles of FLT3 in hematopoiesis and leukemia. Blood. 2002; 100: 1532-1542.
13. Beghini AP, Peterlongo CB, Ripamonti L, Larizza R, Cairoli E. C-KIT mutation in core binding factor leukemias. Blood. 2000; 95: 726-727.
14. Pardanani A, Tefferi A. Imatinib targets other than bcr/abl and their clinical relevance in myeloid disorders. Blood. 2004; 104: 1931-1939.
15. Longley BJ, Reguera MJ, Ma Y. Classes of c-KIT activating mutations: proposed mechanisms of action and implications for disease classification and therapy. Leuk Res. 2001; 25: 571-576.
16. Fabbro D, Ruetz S, Buchdunger E, Cowan-Jacob SW, Fendrich G, Liebetanz J, et al. Protein kinases as targets for anticancer agents: from inhibitors to useful drugs. Pharmacol Ther. 2002; 93: 79-98.
17. Frost MJ, Ferrao PT, Hughes TP, Ashman LK. Juxtamembrane mutant V560G KIT is more sensitive to imatinib (STI571) compared with wild-type c-KIT whereas the kinase domain mutant D816V KIT is resistant. Mol Cancer Ther. 2002; 1: 1115-1124.
18. Kelly LM, Yu JC, Boulton CL, Apatira M, Li J, Sullivan CM, et al. CT53518, a novel selective FLT3 antagonist for the treatment of acute myelogenous leukemia (AML). Cancer Cell. 2002; 1: 421-432.
19. Sambrook J, Russell DW. Molecular Cloning, A Laboratory Manual. 3rd ed. New York: Cold Spring Harbor Laboratory Press; 2001: 64-68.
20. Iwai T, Yokota S, Nakao M, Okamoto T, Taniwaki M, Onodera N, et al. Internal tandem duplication of the FLT3 gene and clinical evaluation in childhood acute myeloid leukemia. The Children's Cancer and Leukemia Study Group, Japan. Leukemia. 1999; 13: 38-43.
21. 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.
22. Gari M, Abuzenadah A, Chaudhary A, Al-Qahtani M, Banni H, Ahmad W, et al. Detection of FLT3 oncogene mutations in acute myeloid leukemia using conformation sensitive gel electrophoresis. Int J Mol Sci. 2008; 9: 2194-2204.
23. Rapley EA, Hockley S, Warren W, Johnson L, Huddart R, Crockford G, et al. Somatic mutations of KIT in familial testicular germ cell tumours. Br J Cancer. 2004; 90: 2397-2401.
24. Looijenga LH, de Leeuw H, van Oorschot M, van Gurp RJ, Stoop H, Gillis AJ, et al. Stem cell factor receptor (c-KIT) codon 816 mutations predict development of bilateral testicular germ-cell tumors. Cancer Res. 2003; 63: 7674-7678.
25. Care RS, Valk PJ, Goodeve AC, Abu-Duhier FM, Geertsma-Kleinekoort WM, Wilson GA, et al. Incidence and prognosis of c-KIT and Flt-3 mutation in CBF leukemias. Br J Haematol. 2003; 121: 775-777.
26. Williams DE. In vivo effects of FLT3 ligand. Blood. 1997; 90: 5022a.
27. Fröhling S, Breitruck J, Schlenk R, Kreitmeier S, Tobis K, Döhner H, et al. FLT3 internal tandem duplications and survival in adult acute myeloid leukemia: analysis of 188 intensively treated patients. Blood. 2001; 89: 717a.
28. Rombouts WJ, Blokland I, Lowenberg B, Ploemacher RE. Biological characteristics and prognosis of adult acute myeloid leukemia with internal tandem duplications in the FLT3 gene. Leukemia. 2000; 14: 675-683.
29. Nakao M, Yokota S, Iwai T, Kaneko H, Horiike S, Kashima K, et al. Internal tandem duplication of the FLT3 gene found in acute myeloid leukemia. Leukemia. 1996; 10: 1911-1918.
30. Armstrong SA, Staunton JE, Silverman LB, Pieters R, den Boer M, Minden MD, et al. MLL translocations specify a distinct gene expression profile that distinguishes a unique leukemia. Nat Genet. 2002; 30: 41-47.
31. Hashimoto K, Matsumura I, Tsujimura T, Kim DK, Ogihara H, Ikeda H, et al. Necessity of tyrosine 719 and phosphatidylinositol 3'-kinase-mediated signal pathway in constitutive activation and oncogenic potential of c-KIT receptor tyrosine kinase with the Asp814Val mutation. Blood. 2003; 101: 1094-1102.
32. Roskoski Jr R. Structure and regulation of KIT protein-tyrosine kinase-the stem cell factor receptor. Biochem Biophys Res Commun. 2005; 338: 1307-1315.
33. Schnittger S, Kohl TM, Haferlach T, Kern W, Hiddemann W, Spiekermann K, et al. KIT-D816 mutations in AML1-ETO-positive AML are associated with impaired event-free and overall survival. Blood. 2006; 107: 1791-1799.