Monitoring of minimal residual disease in patients with core binding factor acute myeloid leukemia and the impact of C-KIT, FLT3, and JAK2 mutations on clinical outcome

References

• Mrózek K, Prior T W, Edwards C, et al. Comparison of cytogenetic and molecular genetic detection of t(8;21) and inv(16) in a prospective series of adults with de novo acute myeloid leukemia: a Cancer and Leukemia Group B Study. J Clin Oncol 2001; 19: 2482–2492
   PubMed Web of Science ®Google Scholar
• Marcucci G, Caligiuri M A, Bloomfield C D, et al. Core binding factor (CBF) acute myeloid leukemia: is molecular monitoring by RT-PCR useful clinically?. Eur J Haematol 2003; 71: 143–154
   PubMed Web of Science ®Google Scholar
• Trnková Z, Bedrlíková R, Marková J, et al. Semiquantitative RT-PCR evaluation of the MDR1 gene expression in patients with acute myeloid leukemia. Neoplasma 2007; 54: 383–390
   PubMed Web of Science ®Google Scholar
• Langabeer S E, Walker H, Gale R E, et al. Frequency of CBFβ/MYH11 fusion transcripts in patients entered into the U.K. MRC AML trials. The MRC adult leukaemia working party. Br J Haematol 1997; 96: 736–739
   PubMed Web of Science ®Google Scholar
• Langabeer S E, Walker H, Rogers J R, et al. Incidence of AML1/ETO fusion transcripts in patients entered into the MRC AML trials. MRC adult leukaemia working party. Br J Haematol 1997; 99: 925–928
   PubMed Web of Science ®Google Scholar
• Yin J A, Frost L. Monitoring AML1-ETO and CBFβ-MYH11 transcripts in acute myeloid leukemia. Curr Oncol Rep 2003; 5: 399–404
   PubMedGoogle Scholar
• Shimada A, Taki T, Tabuchi K, et al. KIT mutations, and not FLT3 internal tandem duplication, are strongly associated with a poor prognosis in pediatric acute myeloid leukemia with t(8;21): a study of the japanese childhood AML cooperative study group. Blood 2006; 107: 1806–1809
   PubMed Web of Science ®Google Scholar
• Leroy H, de Botton S, Grardel-Duflos N, et al. Prognostic value of real-time quantitative PCR (RQ-PCR) in AML with t(8;21). Leukemia 2005; 19: 367–372
   PubMed Web of Science ®Google Scholar
• Martinelli G, Rondoni M, Buonamici S, et al. Molecular monitoring to identify a threshold of CBFβ/MYH11 transcript below which continuous complete remission of acute myeloid leukemia inv16 is likely. Haematologica 2004; 89: 495–497
   PubMed Web of Science ®Google Scholar
• Krauter J, Wattjes M P, Nagel S, et al. Real-time RT-PCR for the detection and quantification of AML1/MTG8 fusion transcripts in t(8;21)-positive AML patients. Br J Haematol 1999; 107: 80–85
   PubMed Web of Science ®Google Scholar
• Lane S, Saal R, Mollee P, et al. A ≥1 log rise in RQ-PCR transcript levels defines molecular relapse in core binding factor acute myeloid leukemia and predicts subsequent morphologic relapse. Leuk Lymphoma 2008; 49: 517–523
   PubMed Web of Science ®Google Scholar
• Stentoft J, Hokland P, Ostergaard M, et al. Minimal residual core binding factor AMLs by real time quantitative PCR-initial response to chemotherapy predicts event free survival and close monitoring of peripheral blood unravels the kinetics of relapse. Leuk Res 2006; 30: 389–395
   PubMed Web of Science ®Google Scholar
• Marcucci G, Caligiuri M A, Döhner H, et al. Quantification of CBFβ/MYH11 fusion transcript by real time RT-PCR in patients with INV(16) acute myeloid leukemia. Leukemia 2001; 15: 1072–1080
   PubMed Web of Science ®Google Scholar
• Buonamici S, Ottaviani E, Testoni N, et al. Real-time quantitation of minimal residual disease in inv(16)-positive acute myeloid leukemia may indicate risk for clinical relapse and may identify patients in a curable state. Blood 2002; 99: 443–449
   PubMed Web of Science ®Google Scholar
• Lasa A, Carricondo M T, Carnicer M J, et al. A new D816 c-KIT gene mutation in refractory AML1-ETO leukemia. Haematologica 2006; 91: 1283–1284
   PubMed Web of Science ®Google Scholar
• Kern W, Schoch C, Haferlach T, et al. Monitoring of minimal residual disease in acute myeloid leukemia. Crit Rev Oncol Hematol 2005; 56: 283–309
   PubMed Web of Science ®Google Scholar
• Boissan M, Feger F, Guillosson J J, et al. c-Kit and c-kit mutations in mastocytosis and other hematological diseases. J Leukoc Biol 2000; 67: 135–148
   PubMed Web of Science ®Google Scholar
• Xu F, Taki T, Yang H W, et al. Tandem duplication of the FLT3 gene is found in acute lymphoblastic leukaemia as well as acute myeloid leukaemia but not in myelodysplastic syndrome or juvenile chronic myelogenous leukaemia in children. Br J Haematol 1999; 105: 155–162
   PubMed Web of Science ®Google Scholar
• Gari M, Goodeve A, Wilson G, 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
   PubMed Web of Science ®Google Scholar
• Paschka P, Marcucci G, Ruppert A S, et al. Adverse prognostic significance of KIT mutations in adult acute myeloid leukemia with inv(16) and t(8;21): a Cancer and leukemia group B study. J Clin Oncol 2006; 24: 3904–3911
   PubMed Web of Science ®Google Scholar
• Care R S, Valk P J, Goodeve A C, 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
   PubMed Web of Science ®Google Scholar
• Cairoli R, Beghini A, Grillo G, et al. Prognostic impact of c-KIT mutations in core binding factor leukemias: an Italian retrospective study. Blood 2006; 107: 3463–3468
   PubMed Web of Science ®Google Scholar
• Boissel N, Leroy H, Brethon B, et al. Incidence and prognostic impact of c-Kit, FLT3, and Ras gene mutations in core binding factor acute myeloid leukemia (CBF-AML). Leukemia 2006; 20: 965–970
   PubMed Web of Science ®Google Scholar
• Nagata H, Worobec A S, Oh C K, et al. Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder. Proc Natl Acad Sci USA 1995; 92: 10560–10564
   PubMed Web of Science ®Google Scholar
• Pignon J M, Giraudier S, Duquesnoy P, et al. A new c-kit mutation in a case of aggressive mast cell disease. Br J Haematol 1997; 96: 374–376
   PubMed Web of Science ®Google Scholar
• Schnittger S, Kohl T M, Haferlach T, et al. KIT-D816 mutations in AML1-ETO-positive AML are associated with impaired event-free and overall survival. Blood 2006; 107: 1791–1799
   PubMed Web of Science ®Google Scholar
• Shih L Y, Liang D C, Huang C F, 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: 303–307
   PubMed Web of Science ®Google Scholar
• Wang Y Y, Zhou G B, Yin T, et al. AML1-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
   PubMed Web of Science ®Google Scholar
• De J, Zanjani R, Hibbard M, et al. Immunophenotypic profile predictive of KIT activating mutations in AML1-ETO leukemia. Am J Clin Pathol 2007; 128: 550–557
   PubMed Web of Science ®Google Scholar
• Beghini A, Ripamonti C B, Cairoli R, et al. KIT activating mutations: incidence in adult and pediatric acute myeloid leukemia, and identification of an internal tandem duplication. Haematologica 2004; 89: 920–925
   PubMed Web of Science ®Google Scholar
• Antonescu C R, Sommer G, Sarran L, et al. Association of KIT exon 9 mutations with nongastric primary site and aggressive behavior: KIT mutation analysis and clinical correlates of 120 gastrointestinal stromal tumors. Clin Cancer Res 2003; 9: 3329–3337
   PubMed Web of Science ®Google Scholar
• Corbacioglu S, Kilic M, Westhoff M A, et al. Newly identified c-KIT receptor tyrosine kinase ITD in childhood AML induces ligand-independent growth and is responsive to a synergistic effect of imatinib and rapamycin. Blood 2006; 108: 3504–3513
   PubMed Web of Science ®Google Scholar
• Yamamoto Y, Kiyoi H, Nakano Y, et al. Activating mutation of D835 within the activation loop of FLT3 in human hematologic malignancies. Blood 2001; 97: 2434–2439
   PubMed Web of Science ®Google Scholar
• Goemans B F, Zwaan C M, Miller M, et al. Mutations in KIT and RAS are frequent events in pediatric core-binding factor acute myeloid leukemia. Leukemia 2005; 19: 1536–1542
   PubMed Web of Science ®Google Scholar
• Meshinchi S, Stirewalt D L, Alonzo T A, et al. Activating mutations of RTK/ras signal transduction pathway in pediatric acute myeloid leukemia. Blood 2003; 102: 1474–1479
   PubMed Web of Science ®Google Scholar
• Mrózek K, Marcucci G, Paschka P, et al. Clinical relevance of mutations and gene-expression changes in adult acute myeloid leukemia with normal cytogenetics: are we ready for a prognostically prioritized molecular classification?. Blood 2007; 109: 431–448
   PubMed Web of Science ®Google Scholar
• Bacher U, Haferlach T, Kern W, et al. A comparative study of molecular mutations in 381 patients with myelodysplastic syndrome and in 4130 patients with acute myeloid leukemia. Haematologica 2007; 92: 744–752
   PubMed Web of Science ®Google Scholar
• Gale R E, Hills R, Pizzey A R, et al. Relationship between FLT3 mutation status, biologic characteristics, and response to targeted therapy in acute promyelocytic leukemia. Blood 2005; 106: 3768–3776
   PubMed Web of Science ®Google Scholar
• Nelson M E, Steensma D P. JAK2 V617F in myeloid disorders: what do we know now, and where are we headed?. Leuk Lymphoma 2006; 47: 177–194
   PubMed Web of Science ®Google Scholar
• Iwanaga E, Nanri T, Matsuno N, et al. A JAK2-V617F activating mutation in addition to KIT and FLT3 mutations is associated with clinical outcome in patients with t(8;21)(q22;q22) acute myeloid leukemia. Haematologica 2009; 94: 433–435
   PubMed Web of Science ®Google Scholar
• Illmer T, Schaich M, Ehninger G, et al. Tyrosine kinase mutations of JAK2 are rare events in AML but influence prognosis of patients with CBF-leukemias. Haematologica 2007; 92: 137–138
   PubMed Web of Science ®Google Scholar
• Vicente C, Vazquez I, Marcotegui N, et al. JAK2-V617F activating mutation in acute myeloid leukemia: prognostic impact and association with other molecular markers. Leukemia 2007; 21: 2386–2390
   PubMed Web of Science ®Google Scholar
• Mayer R J, Davis R B, Schiffer C A, et al. Intensive postremission chemotherapy in adults with acute myeloid leukemia. Cancer and leukemia group B. N Engl J Med 1994; 331: 896–903
   PubMed Web of Science ®Google Scholar
• Creutzig U, Zimmermann M, Lehrnbecher T, et al. Less toxicity by optimizing chemotherapy, but not by addition of granulocyte colony-stimulating factor in children and adolescents with acute myeloid leukemia: results of AML-BFM 98. J Clin Oncol 2006; 24: 4499–4506
   PubMed Web of Science ®Google Scholar
• Claxton D F, Liu P, Hsu H B, et al. Detection of fusion transcripts generated by the inversion 16 chromosome in acute myelogenous leukemia. Blood 1994; 83: 1750–1756
   PubMed Web of Science ®Google Scholar
• Cross N C, Hughes T P, Feng L, et al. Minimal residual disease after allogeneic bone marrow transplantation for chronic myeloid leukaemia in first chronic phase: correlations with acute graft-versus-host disease and relapse. Br J Haematol 1993; 84: 67–74
   PubMed Web of Science ®Google Scholar
• Smetsers T F, Stevens E H, van de Locht L T, et al. Freezing of PCR master mixture retains full amplification activity and facilitates PCR standardisation for molecular diagnostics and real-time quantitative PCR. Leukemia 1998; 12: 1324–1325
   PubMed Web of Science ®Google Scholar
• Wattjes M P, Krauter J, Nagel S, et al. Comparison of nested competitive RT-PCR and real-time RT-PCR for the detection and quantification of AML1/MTG8 fusion transcripts in t(8;21) positive acute myelogenous leukemia. Leukemia 2000; 14: 329–335
   PubMed Web of Science ®Google Scholar
• Visani G, Buonamici S, Malagola M, et al. Pulsed ATRA as single therapy restores long-term remission in PML-RARα-positive acute promyelocytic leukemia patients: real time quantification of minimal residual disease. A pilot study. Leukemia 2001; 15: 1696–1700
   PubMed Web of Science ®Google Scholar
• van Dongen J JM, Macintyre E A, Gabert J A, et al. Standardized RT-PCR analysis of fusion gene transcripts from chromosome aberrations in acute leukemia for detection of minimal residual disease. Report of the BIOMED-1 concerted action: investigation of minimal residual disease in acute leukemia. Leukemia 1999; 13: 1901–1928
   PubMed Web of Science ®Google Scholar
• Peková S, Marková J, Pajer P, et al. Touch-down reverse transcriptase-PCR detection of IgVH rearrangement and Sybr-Green-based real-time RT-PCR quantitation of minimal residual disease in patients with chronic lymphocytic leukemia. Mol Diagn 2005; 9: 23–34
   PubMedGoogle Scholar
• Kiyoi H, Naoe T, Yokota S, et al. Internal tandem duplication of FLT3 associated with leukocytosis in acute promyelocytic leukemia. Leukemia 1997; 11: 1447–1452
   PubMed Web of Science ®Google Scholar
• Marková J, Průková D, Volková Z, et al. A new allelic discrimination assay using locked nucleic acid-modified nucleotides (LNA) probes for detection of JAK2 V617F mutation. Leuk Lymphoma 2007; 48: 636–639
   PubMed Web of Science ®Google Scholar
• Nagata H, Worobec A S, Metcalfe D D, et al. Identification of a polymorphism in the transmembrane domain of the protooncogene c-kit in healthy subjects. Exp Clin Immunogenet 1996; 13: 210–214
   PubMedGoogle Scholar
• Del Poeta G, Venditti A, Del Principe M I, et al. Amount of spontaneous apoptosis detected by Bax/Bcl-2 ratio predicts outcome in acute myeloid leukemia (AML). Blood 2003; 101: 2125–2131
   PubMed Web of Science ®Google Scholar
• Tobal K, Newton J, Macheta M, et al. Molecular quantitation of minimal residual disease in acute myeloid leukemia with t(8;21) can identify patients in durable remission and predict clinical relapse. Blood 2000; 95: 815–819
   PubMed Web of Science ®Google Scholar
• Thiede C, Steudel C, Mohr B, et al. Analysis of FLT3-activating mutations in 979 patients with acute myelogenous leukemia: association with FAB subtypes and identification of subgroups with poor prognosis. Blood 2002; 99: 4326–4335
   PubMed Web of Science ®Google Scholar
• Moreno I, Martin G, Bolufer P, et al. Incidence and prognostic value of FLT3 internal tandem duplication and D835 mutations in acute myeloid leukemia. Haematologica 2003; 88: 19–24
   PubMed Web of Science ®Google Scholar
• Lee J W, Kim Y G, Soung Y H, et al. The JAK2 V617F mutation in de novo acute myelogenous leukemias. Oncogene 2006; 25: 1434–1436
   PubMed Web of Science ®Google Scholar
• Haase D, Feuring-Buske M, Schafer C, et al. Cytogenetic analysis of CD34+ subpopulations in AML and MDS characterized by the expression of CD38 and CD117. Leukemia 1997; 11: 674–679
   PubMed Web of Science ®Google Scholar