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ORIGINAL ARTICLEClinical Translational Therapeutics

Analysis of FLT3-ITD and FLT3-Asp835 Mutations in de novo Acute Myeloid Leukemia: Evaluation of Incidence, Distribution Pattern, Correlation with Cytogenetics and Characterization of Internal Tandem Duplication from Indian Population

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Pages 63-73 | Published online: 08 Dec 2009

REFERENCES

  • Grimwade, D.; Walker, H.; Oliver, F.; Wheatley, K.; Harrison, C.; Harrison, G.; Rees, J.; Hann, I.; Stevens, R.; Burnett, A.; Goldstone, A. The importance of diagnostic cytogenetics on outcome in AML: analysis of 1,612 patients entered into the MRC AML 10 trial. The Medical Research Council Adult and Children's Leukaemia Working Parties. Blood 1998, 92, 2322–2333.
  • Slovak, M.L.; Kopecky, K.J.; Cassileth, P.A.; Harrington, D.H.; Theil, K.S.; Mohamed, A.; Paietta, E.; Willman, C.L.; Head, D.R.; Rowe, J.M.; Forman, S.J.; Appelbaum, F.R. Karyotypic analysis predicts outcome of preremission and postremission therapy in adult acute myeloid leukemia: a Southwest Oncology Group/Eastern Cooperative Oncology Group study. Blood 2000, 96, 4075–4083.
  • Roumier, C.; Fenaux, P.; Lafage, M.; Imbert, M.; Eclache, V.; Preudhomme, C. New mechanisms of AML1 gene alteration in hematological malignancies. Leukemia 2003, 17, 9–16.
  • Pabst, T.; Mueller, B.U.; Zhang, P.; Radomska, H.S.; Narravula, S.; Schnittger, S.; Behre, G.; Hiddemann, W.; Tenen, D.G. Dominant-negative mutations of CEBPA, encoding CCAAT/enhancer binding protein-alpha (C/EBPalpha), in acute myeloid leukemia. Nat Genet 2001, 27, 263–270.
  • Thiede, C.; Steudel, C.; Mohr, B.; Schaich, M.; Schäkel, U.; Platzbecker, U.; Wermke, M.; Bornhäuser, M.; Ritter, M.; Neubauer, A.; Ehninger, G.; Illmer, T. 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.
  • Beghini, A.; Ripamonti, C.B.; Cairoli, R.; Cazzaniga, G.; Colapietro, P.; Elice, F.; Nadali, G.; Grillo, G.; Haas, O.A.; Biondi, A.; Morra, E.; Larizza, L. KIT activating mutations: incidence in adult and pediatric acute myeloid leukemia, and identification of an internal tandem duplication. Haematologica 2004, 89, 920–925.
  • Falini, B.; Mecucci, C.; Tiacci, E.; Alcalay, M.; Rosati, R.; Pasqualucci, L.; Starza, R.L.; Diverio, D.; Colombo, E.; Santucci, A.; Bigerna, B.; Pacini, R.; Pucciarini, A.; Liso, A.; Vignetti, M.; Fazi, P.; Meani, N.; Pettirossi, V.; Saglio, G.; Mandelli, F.; Lo-Coco, F.; Pelicci, P.G.; Martelli, M.F. Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype. New Eng J Med 2005, 352, 254–266.
  • Small, D.; Levenstein, M.; Kim, E.Y.; Carow, C.; Amin, S.; Rockwell, P.; Witte, L.; Burrow, C.; Ratajczakii, M.Z.; Gewirtzii, A.M.; Civin, C.I. STK-1, the human homolog of Flk-2/Flt-3, is selectively expressed in CD34+ human bone marrow cells and is involved in the proliferation of early progenitor/stem cells. Proc Natl Acad Sci 1994, 91, 459–463.
  • Nakao, M.; Yokota, S.; Iwai, T.; Kaneko, H.; Horiike, S.; Kashima, K.; Sonoda, Y.; Fujimoto, T.; Misawa, S. Internal tandem duplication of the flt3 gene found in acute myeloid leukemia. Leukemia 1996, 10, 1911–1918. .
  • Yamamoto, Y.; Kiyoi, H.; Nakano, Y.; Suzuki, R.; Kodera, Y.; Miyawaki, S. Activating mutation of D835 within the activation loop of FLT3 in human hematologic malignancies. Blood 2001, 97, 2434–2439.
  • Kiyoi, H.; Naoe, T.; Yokota, S.; Nakao, M.; Minami, S.; Kuriyama, K.; Takeshita, A.; Saito, K.; Hasegawa, S.; Shimodaira, S.; Tamura, J.; Shimazaki, C.; Matsue, K.; Kobayashi, H.; Arima, N.; Suzuki, R.; Morishita, H.; Saito, H.; Ueda, R.; Ohno, R. Internal tandem duplication of FLT3 associated with leukocytosis in acute promyelocytic leukemia. Leukemia Study Group of the Ministry of Health and Welfare. Leukemia 1997, 11, 1447–1452.
  • Kottaridis, P.D.; Gale, R.E.; Frew, M.E.; Harrison, G.; Langabeer, S.E.; Belton, A.A.; Walker, H.; Wheatley, K.; Bowen, D.T.; Burnett, A.K.; Goldstone, A.H.; Linch, D.C. The presence of a FLT3 internal tandem duplication in patients with acute myeloid leukemia (AML) adds important prognostic information to cytogenetic risk group and response to the first cycle of chemotherapy: analysis of 854 patients from the United Kingdom Medical Research Council AML10 and 12 trials. Blood 2001, 98, 1752–1759.
  • Schnittger, S.; Schoch, C.; Dugas, M.; Kern, W.; Staib, P.; Wuchter, C.; Lo ffler, H.; Sauerland, C.M.; Serve, H.; Büchner, T.; Haferlach, T.; Hiddemann, W. Analysis of FLT3 length mutations in 1003 patients with acute myeloid leukemia: correlation to cytogenetics, FAB subtype, and prognosis in the AML CG study and usefulness as a marker for the detection of minimal residual disease. Blood 2002, 100, 59–66.
  • Matsuno, N.; Osato, M.; Yamashita, N.; Yanagida, M.; Nanri, T.; Fukushima, T.; Motoji, T.; Kusumoto, S.; Towatari, M.; Suzuki, R.; Naoe, T.; Nishii, K.; Shigesada, K.; Ohno, R.; Mitsuya, H.; Ito, Y.; Asou, N. Dual mutations in the AML1 and FLT3 genes are associated with leukemogenesis in acute myeloblastic leukemia of the M0 subtype. Leukemia 2003, 17, 2492–2499.
  • Liang, D.C.; Shih, L.Y.; Hung, I.J.; Yang, C.P.; Chen, S.H.; Jaing, T.H.; Liu, H.C.; Wang, L.Y.; Chang, W.H. FLT3-TKD mutation in childhood acute myeloid leukemia. Leukemia 2003, 17, 883–886.
  • Wang, L.; Lin, D.; Zhang, X.; Chen, S.; Wang, M.; Wang, J. Analysis of FLT3 internal tandem duplication and D835 mutations in Chinese acute leukemia patients. Leuk Res 2005, 29, 1393–1398.
  • Auewarakula, C.U.; Sritana, N.; Limwongsea, C.; Thongnoppakhun, W.; Yenchitsomanus, P. Mutations of the FLT3 gene in adult acute myeloid leukemia: determination of incidence and identification of a novel mutation in a Thai population. Cancer Genet Cytogen 2005, 162, 127–134.
  • Bacher, U.; Haferlach, C.; Kern, W.; Haferlach, T.; Schnittger, S. Prognostic relevance of FLT3-TKD mutations in AML: the combination matters—an analysis of 3082 patients. Blood 2008, 111, 2527–2537.
  • Shih, L.Y.; Kuo, M.C.; Liang, D.C.; Huang, C.F.; Lin, T.L.; Wu, J.H.; Wang, P.N.; Dunn, P.; Lai, C.L. Internal tandem duplication and Asp835 mutations of the FMS-like tyrosine kinase 3 (FLT3) gene in acute promyelocytic leukemia. Cancer 2003, 98, 1206–1216.
  • Frascella, E.; Zampieron, C.; Piccoli, M.; Intini, F.; Basso, G. FLT3-ITD: technical approach and characterization of cases with double duplications. Gene Ther Mol Biol 2006, 10, 165–172.
  • Stirewalt, D.L.; Kopecky, K.J.; Meshinchi, S.; Engel, J.H.; Pogosova-Agadjanyan, E.L.; Linsley, J.; Slovak, M.L.; Willman, C.L.; Radich, J.P. Size of FLT3 internal tandem duplication has prognostic significance in patients with acute myeloid leukemia. Blood 2006, 107, 3724–3726.
  • Lee, J.N.; Kim, H.R.; Shin, J.H.; Joo, Y.D. Prevalence of FLT3 internal tandem duplication in adult acute myelogenous leukemia. Korean J Lab Med 2007, 27, 237–243.
  • Palmisano, M.; Grafone, T.; Ottaviani, E.; Testoni, N.; Baccarani, M.; Martinelli, G. NPM1 mutations are more stable than FLT3 mutations during the course of disease in patients with acute myeloid leukemia. Haematologica 2007, 92, 1268–1269.
  • Wu, D.P.; Yan, L.Z.; Yang, L.; Chen, S.N.; Wu, X.J.; Liang, J.Y. A study of NPM1 and FLT3 gene mutations in acute myeloid leukemia. Zhonghua Nei Ke Za Zhi 2007, 46, 907–910.
  • Colovic, N.; Tosic, N.; Aveic, S.; Djuric, M.; Milic, N.; Bumbasirevic, V.; Colovic, M.; Pavlovic, S. Importance of early detection and follow-up of FLT3 mutations in patients with acute myeloid leukemia. Ann Hematol 2007, 86, 741–747.
  • Bang, S.M.; Ahn, J.Y.; Park, J.; Park, S.H.; Park, J.; Cho, E.K.; Shin, D.B.; Lee, J.H.; Yoo, S.J.; Jeon, I.S.; Kim, Y.K.; Kim, H.J.; Kim, H.N.; Lee, I.K.; Kang, H.J.; Shin, H.Y.; Ahn, H.S. Low frequency and variability of FLT3 mutations in Korean patients with acute myeloid leukemia. J Korean Med Sci 2008, 23, 833–837.
  • Tan, A.Y.; Westerman, D.A.; Carney, D.A.; Seymour, J.F.; Juneja, S.; Dobrovic, A. Detection of NPM1 exon 12 mutations and FLT3 – internal tandem duplications by high resolution melting analysis in normal karyotype acute myeloid leukemia. J Hematol Oncol 2008, 1, 1–5.
  • Meshinchi, S.; Stirewalt, D.L.; Alonzo, T.A.; Boggon, T.J.; Gerbing, R.B.; Rocnik, J.L.; Lange, B.J.; Gilliland, D.G.; Radich, J.P. Structural and numerical variation of FLT3/ITD in pediatric AML. Blood 2008, 111, 4930–4933.
  • Emerenciano, M.; Menezes, J.; Vasquez, M.L.; Zalcberg, I.; Thuler, L.C.; Ponbo-de-Oliveiro, M.S. Clinical relevance of FLT3 gene abnormalities in Brazilian patients with infant leukemia. Leuk lymphoma 2008, 49, 2291–2297.
  • Peng, H.L.; Zhang, G.S.; Gong, F.J.; Shen, J.K.; Zhang, Y.; Xu, Y.X.; Zheng, W.L.; Dai, C.W.; Pei, M.F.; Yang, J.J. Fms-Like tyrosine Kinase (FLT)3 and FLT3 Internal Tandem Duplication in different types of adult leukemia. Croat Med J 2008, 49, 650–669.
  • Al-Tonbary, Y.; Mansour, A.K.; Ghazy, H.; Elghannam, D.M.; Abd-Elghaffar, H.A. Prognostic significance of foetal-like tyrosine kinase 3 mutation in Egyptian children with acute leukaemia. Int J Lab Hematol 2008, 31(3), 320–326. doi:10.1111/j.1751-553X.2008.01039.x.
  • Hasan, S.K.; Sazawal, S.; Dutta, P.; Pillai, L.S.; Kumar, B.; Chaubey, R.; Kumar, R.; Saxena, R. Impact of FLT3 internal tandem duplications on Indian acute promyelocytic leukemia patients: prognostic implications. Hematology 2007, 12, 99–101.
  • Mathews, V. Impact of FLT3 mutations and secondary cytogenetic changes on the outcome of patients with newly diagnosed acute promyelocytic leukemia treated with a single agent arsenic trioxide regimen. Haematologica 2007, 92, 994–995.
  • Kadam, P.K.; Merchant, A.A.; Advani, S.H.; Nair, C. Specific chromosomal changes in patients with ANLL from India. Hematol Oncol 1991, 9, 17–32.
  • Ghosh, S.; Shinde, S.C.; Kumaran, G.S.; Sapre, R.S.; Dhond, S.R.; Badrinath, Y.; Ansari, R.; Kumar, A.; Mahadik, S.; Chougule, A.B.; Nair, C.N. Haematologic and immunophenotypic profile of acute myeloid leukemia: an experience of Tata Memorial Hospital. Ind J Cancer 2003, 40, 71–76.
  • Ahmad, F.; Mandava, S.; Das, B.R. Mutations of NPM1 gene in de novo acute myeloid leukaemia: determination of incidence, distribution pattern and identification of two novel mutations in Indian population. Hematol Oncol 2009, 27, 90–97. doi:10.1002/hon.883.
  • Shaffer, L.G.; Tommerup, N. ( eds.). ISCN 2005: An International System for Human Cytogenetic Nomenclature (2005). Basel: S. Karger, , 2005.
  • Noguera, N.I.; Breccia, M.; Divona, M.; Diverio, D.; Costa, V.; De Santis, S.; Avvisati, G.; Pinazzi, M.B.; Petti, M.C.; Mandelli, F.; Lo Coco, F. Alterations of the FLT3 gene in acute promyelocytic leukemia: association with diagnostic characteristics and analysis of clinical outcome in patients treated with the Italian AIDA protocol. Leukemia 2002, 16, 2185–2189. .
  • Yokota, S.; Kiyoi, H.; Nakao, M.; Iwai, T.; Misawa, S.; Okuda, T.; Sonoda, Y.; Abe, T.; Kahsima, K.; Matsuo, Y.; Naoe, T. Internal tandem duplication of the FLT3 gene is preferentially seen in acute myeloid leukemia and myelodysplastic syndrome among various hematological malignancies: a study on a large series of patients and cell lines. Leukemia 1997, 11, 1605–1619.
  • Vempati, S.; Reindl, C.; Kaza, S.K.; Kern, R.; Malamoussi, T.; Dugas, M.; Mellert, G.; Schnittger, S.; Hiddemann, W.; Spiekermann, K. Arginine 595 is duplicated in patients with acute leukemias carrying internal tandem duplications of FLT3 and modulates its transforming potential. Blood 2007, 110, 686–694.
  • Libura, M.; Asnafi, V.; Tu, A.; Delabesse, E.; Tigaud, I.; Cymbalista, F.; Bennaceur-Griscelli, A.; Villarese, P.; Solbu, G.; Hagemeijer, A.; Beldjord, K.; Hermine, O.; Macintyre, E. FLT3 and MLL intragenic abnormalities in AML reflect a common category of genotoxic stress. Blood 2003, 102, 2198–2204.
  • Gaymes, T.J.; Mufti, G.J.; Rassool, F.V. Myeloid leukemias have increased activity of the nonhomologous end joining pathway and concomitant DNA misrepair that is dependent on the Ku70/86 heterodimer. Cancer Res 2002, 62, 2791–2797.
  • Zhong, S.; Hu, P.; Ye, T.Z.; Stan, R.; Ellis, N.A.; Pandolfi, P.P. A role for PML and the nuclear body in genomic stability. Oncogene 1999, 18, 7941–7947.
  • Kiyoi, H.; Towatari, M.; Yokota, S.; Hamaguchi, M.; Ohno, R.; Saito, H.; Naoe, T. 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.

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