Molecular-genetic insights in paediatric T-cell acute lymphoblastic leukaemia

British Journal of Haematology

Volumn 143, Issue 2, 2008, Pages 153-168

  Van Vlierberghe, Pieter ^a,b   Pieters, Rob ^a   Beverloo, H Berna ^c   Meijerink, Jules P P ^a  

^a SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

^c ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Acute leukaemia; Biological aspects; Pathology

Indexed keywords

CALCINEURIN; CALCINEURIN INHIBITOR; DNA METHYLTRANSFERASE INHIBITOR; FARNESYLTHIOSALICYLIC ACID; GAMMA SECRETASE INHIBITOR; HELIX LOOP HELIX PROTEIN; HISTONE DEACETYLASE INHIBITOR; IMATINIB; MITOGEN ACTIVATED PROTEIN KINASE; NOTCH1 RECEPTOR; PHOSPHATIDYLINOSITOL 3 KINASE INHIBITOR; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN FARNESYLTRANSFERASE INHIBITOR; PROTEIN TYROSINE KINASE; PROTEIN TYROSINE KINASE INHIBITOR; RAS PROTEIN; T LYMPHOCYTE RECEPTOR; TRANSCRIPTION FACTOR;

ACUTE LYMPHOBLASTIC LEUKEMIA; CELL CYCLE; CHILDHOOD LEUKEMIA; CYTOGENETICS; DRUG TARGETING; ENZYME ACTIVATION; GASTROINTESTINAL TOXICITY; GENE EXPRESSION; GENE MUTATION; HUMAN; LEUKEMIA; LEUKEMOGENESIS; NONHUMAN; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION; T CELL LEUKEMIA; TUMOR SUPPRESSOR GENE;

CELL CYCLE; CELL DIFFERENTIATION; CHILD; GENE REARRANGEMENT, T-LYMPHOCYTE; GENES, HOMEOBOX; HUMANS; PRECURSOR T-CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; PROTO-ONCOGENES; RECEPTORS, ANTIGEN, T-CELL; SIGNAL TRANSDUCTION;

EID: 52749085175     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2008.07314.x     Document Type: Review

References (136)

1. Aifantis, I., Mandal, M., Sawai, K., Ferrando, A. Vilimas, T. (2006) Regulation of T-cell progenitor survival and cell-cycle entry by the pre-T-cell receptor. Immunological Reviews, 209, 159 169.
2. Armstrong, S.A. Look, A.T. (2005) Molecular genetics of acute lymphoblastic leukemia. Journal of Clinical Oncology, 23, 6306 6315.
3. Armstrong, S.A., Staunton, J.E., Silverman, L.B., Pieters, R., den Boer, M.L., Minden, M.D., Sallan, S.E., Lander, E.S., Golub, T.R. Korsmeyer, S.J. (2002) MLL translocations specify a distinct gene expression profile that distinguishes a unique leukemia. Nature Genetics, 30, 41 47.
4. Asnafi, V., Radford-Weiss, I., Dastugue, N., Bayle, C., Leboeuf, D., Charrin, C., Garand, R., Lafage-Pochitaloff, M., Delabesse, E., Buzyn, A., Troussard, X. Macintyre, E. (2003) CALM-AF10 is a common fusion transcript in T-ALL and is specific to the TCRgammadelta lineage. Blood, 102, 1000 1006.
5. Baak, U., Gokbuget, N., Orawa, H., Schwartz, S., Hoelzer, D., Thiel, E. Burmeister, T. (2008) Thymic adult T-cell acute lymphoblastic leukemia stratified in standard- and high-risk group by aberrant HOX11L2 expression: experience of the German multicenter ALL study group. Leukemia, 22, 1154 1160.
6. Baer, R. (1993) TAL1, TAL2 and LYL1: a family of basic helix-loop-helix proteins implicated in T cell acute leukaemia. Seminars in Cancer Biology, 4, 341 347.
7. Bain, G., Engel, I., Robanus Maandag, E.C., te Riele, H.P., Voland, J.R., Sharp, L.L., Chun, J., Huey, B., Pinkel, D. Murre, C. (1997) E2A deficiency leads to abnormalities in alphabeta T-cell development and to rapid development of T-cell lymphomas. Molecular and Cellular Biology, 17, 4782 4791.
8. Balgobind, B.V., Van Vlierberghe, P., van den Ouweland, A.M., Beverloo, H.B., Terlouw-Kromosoeto, J.N., van Wering, E.R., Reinhardt, D., Horstmann, M., Kaspers, G.J., Pieters, R., Zwaan, C.M., Van den Heuvel-Eibrink, M.M. Meijerink, J.P. (2008) Leukemia associated NF1 inactivation in pediatric T-ALL and AML patients lacking evidence for neurofibromatosis. Blood, 111, 4322 4328.
9. Ballerini, P., Blaise, A., Busson-Le Coniat, M., Su, X.Y., Zucman-Rossi, J., Adam, M., van den Akker, J., Perot, C., Pellegrino, B., Landman-Parker, J., Douay, L., Berger, R. Bernard, O.A. (2002) HOX11L2 expression defines a clinical subtype of pediatric T-ALL associated with poor prognosis. Blood, 100, 991 997.
10. Batova, A., Diccianni, M.B., Yu, J.C., Nobori, T., Link, M.P., Pullen, J. Yu, A.L. (1997) Frequent and selective methylation of p15 and deletion of both p15 and p16 in T-cell acute lymphoblastic leukemia. Cancer Research, 57, 832 836.
11. Bergeron, J., Clappier, E., Radford, I., Buzyn, A., Millien, C., Soler, G., Ballerini, P., Thomas, X., Soulier, J., Dombret, H., Macintyre, E.A. Asnafi, V. (2007) Prognostic and oncogenic relevance of TLX1/HOX11 expression level in T-ALLs. Blood, 110, 2324 2330.
12. Bernard, O.A., Busson-LeConiat, M., Ballerini, P., Mauchauffe, M., Della Valle, V., Monni, R., Nguyen Khac, F., Mercher, T., Penard-Lacronique, V., Pasturaud, P., Gressin, L., Heilig, R., Daniel, M.T., Lessard, M. Berger, R. (2001) A new recurrent and specific cryptic translocation, t(5;14)(q35;q32), is associated with expression of the Hox11L2 gene in T acute lymphoblastic leukemia. Leukemia, 15, 1495 1504.
13. Bohlander, S.K., Muschinsky, V., Schrader, K., Siebert, R., Schlegelberger, B., Harder, L., Schemmel, V., Fonatsch, C., Ludwig, W.D., Hiddemann, W. Dreyling, M.H. (2000) Molecular analysis of the CALM/AF10 fusion: identical rearrangements in acute myeloid leukemia, acute lymphoblastic leukemia and malignant lymphoma patients. Leukemia, 14, 93 99.
14. Breit, S., Stanulla, M., Flohr, T., Schrappe, M., Ludwig, W.D., Tolle, G., Happich, M., Muckenthaler, M.U. Kulozik, A.E. (2006) Activating NOTCH1 mutations predict favorable early treatment response and long-term outcome in childhood precursor T-cell lymphoblastic leukemia. Blood, 108, 1151 1157.
15. Burmeister, T., Gokbuget, N., Reinhardt, R., Rieder, H., Hoelzer, D. Schwartz, S. (2006) NUP214-ABL1 in adult T-ALL: the GMALL study group experience. Blood, 108, 3556 3559.
16. Campbell, S.L., Khosravi-Far, R., Rossman, K.L., Clark, G.J. Der, C.J. (1998) Increasing complexity of Ras signaling. Oncogene, 17, 1395 1413.
17. Capdeville, R., Buchdunger, E., Zimmermann, J. Matter, A. (2002) Glivec (STI571, imatinib), a rationally developed, targeted anticancer drug. Nature Reviews Drug Discovery, 1, 493 502.
18. Carrera, A.C., Rodriguez-Borlado, L., Martinez-Alonso, C. Merida, I. (1994) T cell receptor-associated alpha-phosphatidylinositol 3-kinase becomes activated by T cell receptor cross-linking and requires pp56lck. Journal of Biological Chemistry, 269, 19435 19440.
19. Carron, C., Cormier, F., Janin, A., Lacronique, V., Giovannini, M., Daniel, M.T., Bernard, O. Ghysdael, J. (2000) TEL-JAK2 transgenic mice develop T-cell leukemia. Blood, 95, 3891 3899.
20. Cauwelier, B., Cave, H., Gervais, C., Lessard, M., Barin, C., Perot, C., Van den Akker, J., Mugneret, F., Charrin, C., Pages, M.P., Gregoire, M.J., Jonveaux, P., Lafage-Pochitaloff, M., Mozzicconacci, M.J., Terre, C., Luquet, I., Cornillet-Lefebvre, P., Laurence, B., Plessis, G., Lefebvre, C., Leroux, D., Antoine-Poirel, H., Graux, C., Mauvieux, L., Heimann, P., Chalas, C., Clappier, E., Verhasselt, B., Benoit, Y., Moerloose, B.D., Poppe, B., Van Roy, N., Keersmaecker, K.D., Cools, J., Sigaux, F., Soulier, J., Hagemeijer, A., Paepe, A.D., Dastugue, N., Berger, R. Speleman, F. (2007) Clinical, cytogenetic and molecular characteristics of 14 T-ALL patients carrying the TCRbeta-HOXA rearrangement: a study of the Groupe Francophone de Cytogenetique Hematologique. Leukemia, 21, 121 128.
21. Cave, H., Suciu, S., Preudhomme, C., Poppe, B., Robert, A., Uyttebroeck, A., Malet, M., Boutard, P., Benoit, Y., Mauvieux, L., Lutz, P., Mechinaud, F., Grardel, N., Mazingue, F., Dupont, M., Margueritte, G., Pages, M.P., Bertrand, Y., Plouvier, E., Brunie, G., Bastard, C., Plantaz, D., Vande Velde, I., Hagemeijer, A., Speleman, F., Lessard, M., Otten, J., Vilmer, E. Dastugue, N. (2004) Clinical significance of HOX11L2 expression linked to t(5;14)(q35;q32), of HOX11 expression, and of SIL-TAL fusion in childhood T-cell malignancies: results of EORTC studies 58881 and 58951. Blood, 103, 442 450.
22. Cayuela, J.M., Madani, A., Sanhes, L., Stern, M.H. Sigaux, F. (1996) Multiple tumor-suppressor gene 1 inactivation is the most frequent genetic alteration in T-cell acute lymphoblastic leukemia. Blood, 87, 2180 2186.
23. Chan, S.M., Weng, A.P., Tibshirani, R., Aster, J.C. Utz, P.J. (2007) Notch signals positively regulate activity of the mTOR pathway in T cell acute lymphoblastic leukemia. Blood, 110, 278 286.
24. Chang, P.Y., Draheim, K., Kelliher, M.A. Miyamoto, S. (2006) NFKB1 is a direct target of the TAL1 oncoprotein in human T leukemia cells. Cancer Research, 66, 6008 6013.
25. Chervinsky, D.S., Zhao, X.F., Lam, D.H., Ellsworth, M., Gross, K.W. Aplan, P.D. (1999) Disordered T-cell development and T-cell malignancies in SCL LMO1 double-transgenic mice: parallels with E2A-deficient mice. Molecular and Cellular Biology, 19, 5025 5035.
26. Clappier, E., Cuccuini, W., Cayuela, J.M., Vecchione, D., Baruchel, A., Dombret, H., Sigaux, F. Soulier, J. (2006) Cyclin D2 dysregulation by chromosomal translocations to TCR loci in T-cell acute lymphoblastic leukemias. Leukemia, 20, 82 86.
27. Clappier, E., Cuccuini, W., Kalota, A., Crinquette, A., Cayuela, J.M., Dik, W.A., Langerak, A.W., Montpellier, B., Nadel, B., Walrafen, P., Delattre, O., Aurias, A., Leblanc, T., Dombret, H., Gewirtz, A.M., Baruchel, A., Sigaux, F. Soulier, J. (2007) The C-MYB locus is involved in chromosomal translocation and genomic duplications in human T-cell acute leukemia (T-ALL) - the translocation defining a new T-ALL subtype in very young children. Blood, 110, 1251 1261.
28. De Keersmaecker, K., Marynen, P. Cools, J. (2005a) Genetic insights in the pathogenesis of T-cell acute lymphoblastic leukemia. Haematologica, 90, 1116 1127.
29. De Keersmaecker, K., Graux, C., Odero, M.D., Mentens, N., Somers, R., Maertens, J., Wlodarska, I., Vandenberghe, P., Hagemeijer, A., Marynen, P. Cools, J. (2005b) Fusion of EML1 to ABL1 in T-cell acute lymphoblastic leukemia with cryptic t(9;14)(q34;q32). Blood, 105, 4849 4852.
30. DeAngelo, D.J. (2006) A phase I clinical trial of the notch inhibitor MK-0752 in patients with T-cell acute lymphoblastic leukemia (T-ALL) and other leukemias. Journal of Clinical Oncology, 2006 ASCO Annual Meeting Proceedings, 24, 6585.
31. Deshpande, A.J., Cusan, M., Rawat, V.P., Reuter, H., Krause, A., Pott, C., Quintanilla-Martinez, L., Kakadia, P., Kuchenbauer, F., Ahmed, F., Delabesse, E., Hahn, M., Lichter, P., Kneba, M., Hiddemann, W., Macintyre, E., Mecucci, C., Ludwig, W.D., Humphries, R.K., Bohlander, S.K., Feuring-Buske, M. Buske, C. (2006) Acute myeloid leukemia is propagated by a leukemic stem cell with lymphoid characteristics in a mouse model of CALM/AF10-positive leukemia. Cancer Cell, 10, 363 374.
32. Dik, W.A., Brahim, W., Braun, C., Asnafi, V., Dastugue, N., Bernard, O.A., van Dongen, J.J., Langerak, A.W., Macintyre, E.A. Delabesse, E. (2005) CALM-AF10+ T-ALL expression profiles are characterized by overexpression of HOXA and BMI1 oncogenes. Leukemia, 19, 1948 1957.
33. Dik, W.A., Nadel, B., Przybylski, G.K., Asnafi, V., Grabarczyk, P., Navarro, J.M., Verhaaf, B., Schmidt, C.A., Macintyre, E.A., van Dongen, J.J. Langerak, A.W. (2007) Different chromosomal breakpoints impact the level of LMO2 expression in T-ALL. Blood, 110, 388 392.
34. Ellisen, L.W., Bird, J., West, D.C., Soreng, A.L., Reynolds, T.C., Smith, S.D. Sklar, J. (1991) TAN-1, the human homolog of the Drosophila notch gene, is broken by chromosomal translocations in T lymphoblastic neoplasms. Cell, 66, 649 661.
35. van Es, J.H., van Gijn, M.E., Riccio, O., van den Born, M., Vooijs, M., Begthel, H., Cozijnsen, M., Robine, S., Winton, D.J., Radtke, F. Clevers, H. (2005) Notch/gamma-secretase inhibition turns proliferative cells in intestinal crypts and adenomas into goblet cells. Nature, 435, 959 963.
36. Ferrando, A.A., Neuberg, D.S., Staunton, J., Loh, M.L., Huard, C., Raimondi, S.C., Behm, F.G., Pui, C.H., Downing, J.R., Gilliland, D.G., Lander, E.S., Golub, T.R. Look, A.T. (2002) Gene expression signatures define novel oncogenic pathways in T cell acute lymphoblastic leukemia. Cancer Cell, 1, 75 87.
37. Ferrando, A.A., Armstrong, S.A., Neuberg, D.S., Sallan, S.E., Silverman, L.B., Korsmeyer, S.J. Look, A.T. (2003) Gene expression signatures in MLL-rearranged T-lineage and B-precursor acute leukemias: dominance of HOX dysregulation. Blood, 102, 262 268.
38. Ferrando, A.A., Herblot, S., Palomero, T., Hansen, M., Hoang, T., Fox, E.A. Look, A.T. (2004a) Biallelic transcriptional activation of oncogenic transcription factors in T-cell acute lymphoblastic leukemia. Blood, 103, 1909 1911.
39. Ferrando, A.A., Neuberg, D.S., Dodge, R.K., Paietta, E., Larson, R.A., Wiernik, P.H., Rowe, J.M., Caligiuri, M.A., Bloomfield, C.D. Look, A.T. (2004b) Prognostic importance of TLX1 (HOX11) oncogene expression in adults with T-cell acute lymphoblastic leukaemia. Lancet, 363, 535 536.
40. Germain, R.N. Stefanova, I. (1999) The dynamics of T cell receptor signaling: complex orchestration and the key roles of tempo and cooperation. Annual review of immunology, 17, 467 522.
41. Gibbs, J.B., Oliff, A. Kohl, N.E. (1994) Farnesyltransferase inhibitors: Ras research yields a potential cancer therapeutic. Cell, 77, 175 178.
42. Gottardo, N.G., Jacoby, P.A., Sather, H.N., Reaman, G.H., Baker, D.L. Kees, U.R. (2005) Significance of HOX11L2/TLX3 expression in children with T-cell acute lymphoblastic leukemia treated on Children's Cancer Group protocols. Leukemia, 19, 1705 1708.
43. Grabher, C., von Boehmer, H. Look, A.T. (2006) Notch 1 activation in the molecular pathogenesis of T-cell acute lymphoblastic leukaemia. Nature Reviews Cancer, 6, 347 359.
44. Graux, C., Cools, J., Melotte, C., Quentmeier, H., Ferrando, A., Levine, R., Vermeesch, J.R., Stul, M., Dutta, B., Boeckx, N., Bosly, A., Heimann, P., Uyttebroeck, A., Mentens, N., Somers, R., MacLeod, R.A., Drexler, H.G., Look, A.T., Gilliland, D.G., Michaux, L., Vandenberghe, P., Wlodarska, I., Marynen, P. Hagemeijer, A. (2004) Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia. Nature Genetics, 36, 1084 1089.
45. Graux, C., Cools, J., Michaux, L., Vandenberghe, P. Hagemeijer, A. (2006) Cytogenetics and molecular genetics of T-cell acute lymphoblastic leukemia: from thymocyte to lymphoblast. Leukemia, 20, 1496 1510.
46. van Grotel, M., Meijerink, J.P., Beverloo, H.B., Langerak, A.W., Buys-Gladdines, J.G., Schneider, P., Poulsen, T.S., den Boer, M.L., Horstmann, M., Kamps, W.A., Veerman, A.J., van Wering, E.R., van Noesel, M.M. Pieters, R. (2006) The outcome of molecular-cytogenetic subgroups in pediatric T-cell acute lymphoblastic leukemia: a retrospective study of patients treated according to DCOG or COALL protocols. Haematologica, 91, 1212 1221.
47. van Grotel, M., Meijerink, J.P., van Wering, E.R., Langerak, A.W., Beverloo, H.B., Buijs-Gladdines, J.G., Burger, N.B., Passier, M., van Lieshout, E.M., Kamps, W.A., Veerman, A.J., van Noesel, M.M. Pieters, R. (2008) Prognostic significance of molecular-cytogenetic abnormalities in pediatric T-ALL is not explained by immunophenotypic differences. Leukemia, 22, 124 131.
48. Guo, Z., Dose, M., Kovalovsky, D., Chang, R., O'Neil, J., Look, A.T., von Boehmer, H., Khazaie, K. Gounari, F. (2007) {beta}-Catenin stabilization stalls the transition from double-positive to single-positive stage and predisposes thymocytes to malignant transformation. Blood, 109, 5463 5472.
49. Hansen-Hagge, T.E., Schafer, M., Kiyoi, H., Morris, S.W., Whitlock, J.A., Koch, P., Bohlmann, I., Mahotka, C., Bartram, C.R. Janssen, J.W. (2002) Disruption of the RanBP17/Hox11L2 region by recombination with the TCRdelta locus in acute lymphoblastic leukemias with t(5;14)(q34;q11). Leukemia, 16, 2205 2212.
50. Hatano, M., Roberts, C.W., Minden, M., Crist, W.M. Korsmeyer, S.J. (1991) Deregulation of a homeobox gene, HOX11, by the t(10;14) in T cell leukemia. Science, 253, 79 82.
51. Hawley, R.G., Fong, A.Z., Reis, M.D., Zhang, N., Lu, M. Hawley, T.S. (1997) Transforming function of the HOX11/TCL3 homeobox gene. Cancer Research, 57, 337 345.
52. Herblot, S., Steff, A.M., Hugo, P., Aplan, P.D. Hoang, T. (2000) SCL and LMO1 alter thymocyte differentiation: inhibition of E2A-HEB function and pre-T alpha chain expression. Nature Immunology, 1, 138 144.
53. Herman, J.G., Jen, J., Merlo, A. Baylin, S.B. (1996) Hypermethylation- associated inactivation indicates a tumor suppressor role for p15INK4B. Cancer Research, 56, 722 727.
54. Hoffmann, R. Melchers, F. (2003) A genomic view of lymphocyte development. Current Opinion in Immunology, 15, 239 245.
55. Jones, S. (2004) An overview of the basic helix-loop-helix proteins. Genome Biology, 5, 226.
56. Kawamura, M., Ohnishi, H., Guo, S.X., Sheng, X.M., Minegishi, M., Hanada, R., Horibe, K., Hongo, T., Kaneko, Y., Bessho, F., Yanagisawa, M., Sekiya, T. Hayashi, Y. (1999) Alterations of the p53, p21, p16, p15 and RAS genes in childhood T-cell acute lymphoblastic leukemia. Leukemia Research, 23, 115 126.
57. Kees, U.R., Heerema, N.A., Kumar, R., Watt, P.M., Baker, D.L., La, M.K., Uckun, F.M. Sather, H.N. (2003) Expression of HOX11 in childhood T-lineage acute lymphoblastic leukaemia can occur in the absence of cytogenetic aberration at 10q24: a study from the Children's Cancer Group (CCG). Leukemia, 17, 887 893.
58. Kruisbeek, A.M., Haks, M.C., Carleton, M., Michie, A.M., Zuniga-Pflucker, J.C. Wiest, D.L. (2000) Branching out to gain control: how the pre-TCR is linked to multiple functions. Immunology today, 21, 637 644.
59. Lacronique, V., Boureux, A., Valle, V.D., Poirel, H., Quang, C.T., Mauchauffe, M., Berthou, C., Lessard, M., Berger, R., Ghysdael, J. Bernard, O.A. (1997) A TEL-JAK2 fusion protein with constitutive kinase activity in human leukemia. Science, 278, 1309 1312.
60. Lahortiga, I., De Keersmaecker, K., Van Vlierberghe, P., Graux, C., Cauwelier, B., Lambert, F., Mentens, N., Beverloo, H.B., Pieters, R., Speleman, F., Odero, M.D., Bauters, M., Froyen, G., Marynen, P., Vandenberghe, P., Wlodarska, I., Meijerink, J.P. Cools, J. (2007) Duplication of the MYB oncogene in T cell acute lymphoblastic leukemia. Nature Genetics, 39, 593 595.
61. Latour, S. Veillette, A. (2001) Proximal protein tyrosine kinases in immunoreceptor signaling. Current Opinion in Immunology, 13, 299 306.
62. Leone, G., Voso, M.T., Teofili, L. Lubbert, M. (2003) Inhibitors of DNA methylation in the treatment of hematological malignancies and MDS. Clinical Immunology, 109, 89 102.
63. Lewis, H.D., Leveridge, M., Strack, P.R., Haldon, C.D., O'Neil, J., Kim, H., Madin, A., Hannam, J.C., Look, A.T., Kohl, N., Draetta, G., Harrison, T., Kerby, J.A., Shearman, M.S. Beher, D. (2007) Apoptosis in T cell acute lymphoblastic leukemia cells after cell cycle arrest induced by pharmacological inhibition of notch signaling. Chemistry & Biology, 14, 209 219.
64. von Lindern, M., Breems, D., van Baal, S., Adriaansen, H. Grosveld, G. (1992) Characterization of the translocation breakpoint sequences of two DEK-CAN fusion genes present in t(6;9) acute myeloid leukemia and a SET-CAN fusion gene found in a case of acute undifferentiated leukemia. Genes Chromosomes and Cancer, 5, 227 234.
65. von Lintig, F.C., Huvar, I., Law, P., Diccianni, M.B., Yu, A.L. Boss, G.R. (2000) Ras activation in normal white blood cells and childhood acute lymphoblastic leukemia. Clin Cancer Res, 6, 1804 1810.
66. Lombardo, L.J., Lee, F.Y., Chen, P., Norris, D., Barrish, J.C., Behnia, K., Castaneda, S., Cornelius, L.A., Das, J., Doweyko, A.M., Fairchild, C., Hunt, J.T., Inigo, I., Johnston, K., Kamath, A., Kan, D., Klei, H., Marathe, P., Pang, S., Peterson, R., Pitt, S., Schieven, G.L., Schmidt, R.J., Tokarski, J., Wen, M.L., Wityak, J. Borzilleri, R.M. (2004) Discovery of N-(2-chloro-6-methyl- phenyl)-2-6-(4-(2-hydroxyethyl)- piperazin-1-yl)-2-methylpyrimidin-4- ylamino)thiazole-5-carboxamide (BMS-354825), a dual Src/Abl kinase inhibitor with potent antitumor activity in preclinical assays. Journal of Medicinal Chemistry, 47, 6658 6661.
67. Malyukova, A., Dohda, T., von der Lehr, N., Akhondi, S., Corcoran, M., Heyman, M., Spruck, C., Grander, D., Lendahl, U. Sangfelt, O. (2007) The tumor suppressor gene hCDC4 is frequently mutated in human T-cell acute lymphoblastic leukemia with functional consequences for notch signaling. Cancer Research, 67, 5611 5616.
68. Maser, R.S., Choudhury, B., Campbell, P.J., Feng, B., Wong, K.K., Protopopov, A., O'Neil, J., Gutierrez, A., Ivanova, E., Perna, I., Lin, E., Mani, V., Jiang, S., McNamara, K., Zaghlul, S., Edkins, S., Stevens, C., Brennan, C., Martin, E.S., Wiedemeyer, R., Kabbarah, O., Nogueira, C., Histen, G., Aster, J., Mansour, M., Duke, V., Foroni, L., Fielding, A.K., Goldstone, A.H., Rowe, J.M., Wang, Y.A., Look, A.T., Stratton, M.R., Chin, L., Futreal, P.A. Depinho, R.A. (2007) Chromosomally unstable mouse tumours have genomic alterations similar to diverse human cancers. Nature, 447, 966 971.
69. Mauvieux, L., Leymarie, V., Helias, C., Perrusson, N., Falkenrodt, A., Lioure, B., Lutz, P. Lessard, M. (2002) High incidence of Hox11L2 expression in children with T-ALL. Leukemia, 16, 2417 2422.
70. McCormick, F. (1995) Ras signaling and NF1. Current Opinion in Genetics and Development, 5, 51 55.
71. Medyouf, H., Alcalde, H., Berthier, C., Guillemin, M.C., Dos Santos, N.R., Janin, A., Decaudin, D., de The, H. Ghysdael, J. (2007) Targeting calcineurin activation as a therapeutic strategy for T-cell acute lymphoblastic leukemia. Nature Medicine, 13, 736 741.
72. Merlo, A., Herman, J.G., Mao, L., Lee, D.J., Gabrielson, E., Burger, P.C., Baylin, S.B. Sidransky, D. (1995) 5′ CpG island methylation is associated with transcriptional silencing of the tumour suppressor p16/CDKN2/MTS1 in human cancers. Nature Medicine, 1, 686 692.
73. Meydan, N., Grunberger, T., Dadi, H., Shahar, M., Arpaia, E., Lapidot, Z., Leeder, J.S., Freedman, M., Cohen, A., Gazit, A., Levitzki, A. Roifman, C.M. (1996) Inhibition of acute lymphoblastic leukaemia by a Jak-2 inhibitor. Nature, 379, 645 648.
74. Milano, J., McKay, J., Dagenais, C., Foster-Brown, L., Pognan, F., Gadient, R., Jacobs, R.T., Zacco, A., Greenberg, B. Ciaccio, P.J. (2004) Modulation of notch processing by gamma-secretase inhibitors causes intestinal goblet cell metaplasia and induction of genes known to specify gut secretory lineage differentiation. Toxicological Sciences, 82, 341 358.
75. Mueller, D., Bach, C., Zeisig, D., Garcia-Cuellar, M.P., Monroe, S., Sreekumar, A., Zhou, R., Nesvizhskii, A., Chinnaiyan, A., Hess, J.L. Slany, R.K. (2007) A role for the MLL fusion partner ENL in transcriptional elongation and chromatin modification. Blood, 110, 4445 4454.
76. Murre, C. (2000) Intertwining proteins in thymocyte development and cancer. Nature Immunology, 1, 97 98.
77. Nagano, K., Itagaki, C., Izumi, T., Nunomura, K., Soda, Y., Tani, K., Takahashi, N., Takenawa, T. Isobe, T. (2006) Rb plays a role in survival of Abl-dependent human tumor cells as a downstream effector of Abl tyrosine kinase. Oncogene, 25, 493 502.
78. Nurse, P. (2000) A long twentieth century of the cell cycle and beyond. Cell, 100, 71 78.
79. O'Neil, J., Shank, J., Cusson, N., Murre, C. Kelliher, M. (2004) TAL1/SCL induces leukemia by inhibiting the transcriptional activity of E47/HEB. Cancer Cell, 5, 587 596.
80. O'Neil, J., Grim, J., Strack, P., Rao, S., Tibbitts, D., Winter, C., Hardwick, J., Welcker, M., Meijerink, J.P., Pieters, R., Draetta, G., Sears, R., Clurman, B.E. Look, A.T. (2007) FBW7 mutations in leukemic cells mediate NOTCH pathway activation and resistance to {gamma}-secretase inhibitors. Journal of Experimental Medicine, 204, 1813 1824.
81. Okada, Y., Feng, Q., Lin, Y., Jiang, Q., Li, Y., Coffield, V.M., Su, L., Xu, G. Zhang, Y. (2005) hDOT1L links histone methylation to leukemogenesis. Cell, 121, 167 178.
82. Okada, Y., Jiang, Q., Lemieux, M., Jeannotte, L., Su, L. Zhang, Y. (2006) Leukaemic transformation by CALM-AF10 involves upregulation of Hoxa5 by hDOT1L. Nature Cell Biology, 8, 1017 1024.
83. Okamoto, A., Demetrick, D.J., Spillare, E.A., Hagiwara, K., Hussain, S.P., Bennett, W.P., Forrester, K., Gerwin, B., Serrano, M. Beach, D.H. (1994) Mutations and altered expression of p16INK4 in human cancer. Proc Natl Acad Sci USA, 91, 11045 11049.
84. Owens, B.M., Hawley, T.S., Spain, L.M., Kerkel, K.A. Hawley, R.G. (2006) TLX1/HOX11-mediated disruption of primary thymocyte differentiation prior to the CD4+CD8+ double-positive stage. British Journal Haematology, 132, 216 229.
85. Paietta, E., Ferrando, A.A., Neuberg, D., Bennett, J.M., Racevskis, J., Lazarus, H., Dewald, G., Rowe, J.M., Wiernik, P.H., Tallman, M.S. Look, A.T. (2004) Activating FLT3 mutations in CD117/KIT(+) T-cell acute lymphoblastic leukemias. Blood, 104, 558 560.
86. Palacios, E.H. Weiss, A. (2004) Function of the Src-family kinases, Lck and Fyn, in T-cell development and activation. Oncogene, 23, 7990 8000.
87. Palomero, T., Lim, W.K., Odom, D.T., Sulis, M.L., Real, P.J., Margolin, A., Barnes, K.C., O'Neil, J., Neuberg, D., Weng, A.P., Aster, J.C., Sigaux, F., Soulier, J., Look, A.T., Young, R.A., Califano, A. Ferrando, A.A. (2006) NOTCH1 directly regulates c-MYC and activates a feed-forward-loop transcriptional network promoting leukemic cell growth. Proc Natl Acad Sci U S A, 103, 18261 18266.
88. Palomero, T., Sulis, M.L., Cortina, M., Real, P.J., Barnes, K., Ciofani, M., Caparros, E., Buteau, J., Brown, K., Perkins, S.L., Bhagat, G., Agarwal, A.M., Basso, G., Castillo, M., Nagase, S., Cordon-Cardo, C., Parsons, R., Zuniga-Pflucker, J.C., Dominguez, M. Ferrando, A.A. (2007) Mutational loss of PTEN induces resistance to NOTCH1 inhibition in T-cell leukemia. Nature medicine, 13, 1203 1210.
89. Pui, C.H. Evans, W.E. (2006) Treatment of acute lymphoblastic leukemia. The New England journal of medicine, 354, 166 178.
90. Pui, J.C., Allman, D., Xu, L., DeRocco, S., Karnell, F.G., Bakkour, S., Lee, J.Y., Kadesch, T., Hardy, R.R., Aster, J.C. Pear, W.S. (1999) Notch1 expression in early lymphopoiesis influences B versus T lineage determination. Immunity, 11, 299 308.
91. Radtke, F., Ferrero, I., Wilson, A., Lees, R., Aguet, M. MacDonald, H.R. (2000) Notch1 deficiency dissociates the intrathymic development of dendritic cells and T cells. Journal of Experimental Medicine, 191, 1085 1094.
92. Radtke, F., Wilson, A. MacDonald, H.R. (2004) Notch signaling in T- and B-cell development. Current Opinion in Immunology, 16, 174 179.
93. Rosati, R., La Starza, R., Barba, G., Gorello, P., Pierini, V., Matteucci, C., Roti, G., Crescenzi, B., Aloisi, T., Aversa, F., Martelli, M.F. Mecucci, C. (2007) Cryptic chromosome 9q34 deletion generates TAF-Ialpha/CAN and TAF-Ibeta/CAN fusion transcripts in acute myeloid leukemia. Haematologica, 92, 232 235.
94. Rubnitz, J.E., Behm, F.G., Curcio-Brint, A.M., Pinheiro, R.P., Carroll, A.J., Raimondi, S.C., Shurtleff, S.A. Downing, J.R. (1996) Molecular analysis of t(11;19) breakpoints in childhood acute leukemias. Blood, 87, 4804 4808.
95. Saito, T. Watanabe, N. (1998) Positive and negative thymocyte selection. Critical Reviews in Immunology, 18, 359 370.
96. Sambandam, A., Maillard, I., Zediak, V.P., Xu, L., Gerstein, R.M., Aster, J.C., Pear, W.S. Bhandoola, A. (2005) Notch signaling controls the generation and differentiation of early T lineage progenitors. Nature Immunology, 6, 663 670.
97. Samelson, L.E., Donovan, J.A., Isakov, N., Ota, Y. Wange, R.L. (1995) Signal transduction mediated by the T-cell antigen receptor. Annals of the New York Academy of Sciences, 766, 157 172.
98. Sanchez-Garcia, I. Rabbitts, T.H. (1993) LIM domain proteins in leukaemia and development. Seminars in Cancer Biology, 4, 349 358.
99. Schmitt, T.M. Zuniga-Pflucker, J.C. (2002) Induction of T cell development from hematopoietic progenitor cells by delta-like-1 in vitro. Immunity, 17, 749 756.
100. Schneider, N.R., Carroll, A.J., Shuster, J.J., Pullen, D.J., Link, M.P., Borowitz, M.J., Camitta, B.M., Katz, J.A. Amylon, M.D. (2000) New recurring cytogenetic abnormalities and association of blast cell karyotypes with prognosis in childhood T-cell acute lymphoblastic leukemia: a pediatric oncology group report of 343 cases. Blood, 96, 2543 2549.
101. Shafman, T., Khanna, K.K., Kedar, P., Spring, K., Kozlov, S., Yen, T., Hobson, K., Gatei, M., Zhang, N., Watters, D., Egerton, M., Shiloh, Y., Kharbanda, S., Kufe, D. Lavin, M.F. (1997) Interaction between ATM protein and c-Abl in response to DNA damage. Nature, 387, 520 523.
102. Sharma, V.M., Calvo, J.A., Draheim, K.M., Cunningham, L.A., Hermance, N., Beverly, L., Krishnamoorthy, V., Bhasin, M., Capobianco, A.J. Kelliher, M.A. (2006) Notch1 contributes to mouse T-cell leukemia by directly inducing the expression of c-myc. Molecular and Cellular Biology, 26, 8022 8031.
103. Sherr, C.J. McCormick, F. (2002) The RB and p53 pathways in cancer. Cancer Cell, 2, 103 112.
104. Sherr, C.J. Weber, J.D. (2000) The ARF/p53 pathway. Current Opinion in Genetics and Development, 10, 94 99.
105. Soulier, J., Clappier, E., Cayuela, J.M., Regnault, A., Garcia-Peydro, M., Dombret, H., Baruchel, A., Toribio, M.L. Sigaux, F. (2005) HOXA genes are included in genetic and biologic networks defining human acute T-cell leukemia (T-ALL). Blood, 106, 274 286.
106. Speleman, F., Cauwelier, B., Dastugue, N., Cools, J., Verhasselt, B., Poppe, B., Van Roy, N., Vandesompele, J., Graux, C., Uyttebroeck, A., Boogaerts, M., De Moerloose, B., Benoit, Y., Selleslag, D., Billiet, J., Robert, A., Huguet, F., Vandenberghe, P., De Paepe, A., Marynen, P. Hagemeijer, A. (2005) A new recurrent inversion, inv(7)(p15q34), leads to transcriptional activation of HOXA10 and HOXA11 in a subset of T-cell acute lymphoblastic leukemias. Leukemia, 19, 358 366.
107. Su, X.Y., Busson, M., Della Valle, V., Ballerini, P., Dastugue, N., Talmant, P., Ferrando, A.A., Baudry-Bluteau, D., Romana, S., Berger, R. Bernard, O.A. (2004) Various types of rearrangements target TLX3 locus in T-cell acute lymphoblastic leukemia. Genes Chromosomes and Cancer, 41, 243 249.
108. Teixeira, C., Stang, S.L., Zheng, Y., Beswick, N.S. Stone, J.C. (2003) Integration of DAG signaling systems mediated by PKC-dependent phosphorylation of RasGRP3. Blood, 102, 1414 1420.
109. Thompson, B.J., Buonamici, S., Sulis, M.L., Palomero, T., Vilimas, T., Basso, G., Ferrando, A. Aifantis, I. (2007) The SCFFBW7 ubiquitin ligase complex as a tumor suppressor in T cell leukemia. Journal of Experimental Medicine. 204, 1825 1835.
110. Tycko, B., Smith, S.D. Sklar, J. (1991) Chromosomal translocations joining LCK and TCRB loci in human T cell leukemia. Journal of Experimental Medicine, 174, 867 873.
111. Uddin, S., Hussain, A., Al-Hussein, K., Platanias, L.C. Bhatia, K.G. (2004) Inhibition of phosphatidylinositol 3′-kinase induces preferentially killing of PTEN-null T leukemias through AKT pathway. Biochemical and Biophysical Research Communications, 320, 932 938.
112. Valge-Archer, V.E., Osada, H., Warren, A.J., Forster, A., Li, J., Baer, R. Rabbitts, T.H. (1994) The LIM protein RBTN2 and the basic helix-loop-helix protein TAL1 are present in a complex in erythroid cells. Proc Natl Acad Sci USA, 91, 8617 8621.
113. Van Limbergen, H., Beverloo, H.B., van Drunen, E., Janssens, A., Hahlen, K., Poppe, B., Van Roy, N., Marynen, P., De Paepe, A., Slater, R. Speleman, F. (2001) Molecular cytogenetic and clinical findings in ETV6/ABL1-positive leukemia. Genes Chromosomes and Cancer, 30, 274 282.
114. Van Vlierberghe, P., Meijerink, J.P., Stam, R.W., van der Smissen, W., van Wering, E.R., Beverloo, H.B. Pieters, R. (2005) Activating FLT3 mutations in CD4+/CD8- pediatric T-cell acute lymphoblastic leukemias. Blood, 106, 4414 4415.
115. Van Vlierberghe, P., van Grotel, M., Beverloo, H.B., Lee, C., Helgason, T., Buijs-Gladdines, J., Passier, M., van Wering, E.R., Veerman, A.J., Kamps, W.A., Meijerink, J.P. Pieters, R. (2006a) The cryptic chromosomal deletion del(11)(p12p13) as a new activation mechanism of LMO2 in pediatric T-cell acute lymphoblastic leukemia. Blood, 108, 3520 3529.
116. Van Vlierberghe, P., Beverloo, H.B., Buijs-Gladdines, J., van Wering, E.R., Horstmann, M., Pieters, R. Meijerink, J.P. (2007) Monoallelic or biallelic LMO2 expression in relation to the LMO2 rearrangement status in pediatric T-cell acute lymphoblastic leukemia. Leukemia, Advance online publication 13 December 2007; doi :.
117. Van Vlierberghe, P., van Grotel, M., Tchinda, J., Lee, C., Beverloo, H.B., van der Spek, P.J., Stubbs, A., Cools, J., Nagata, K., Fornerod, M., Buijs-Gladdines, J., Horstmann, M., van Wering, E.R., Soulier, J., Pieters, R. Meijerink, J.P. (2008) The recurrent SET-NUP214 fusion as a new HOXA activation mechanism in pediatric T-cell acute lymphoblastic leukemia. Blood, 111, 4668 4680.
118. Vilimas, T., Mascarenhas, J., Palomero, T., Mandal, M., Buonamici, S., Meng, F., Thompson, B., Spaulding, C., Macaroun, S., Alegre, M.L., Kee, B.L., Ferrando, A., Miele, L. Aifantis, I. (2007) Targeting the NF-kappaB signaling pathway in Notch1-induced T-cell leukemia. Nature Medicine, 13, 70 77.
119. van Vlierberghe, P., Meijerink, J.P., Lee, C., Ferrando, A.A., Look, A.T., van Wering, E.R., Beverloo, H.B., Aster, J.C. Pieters, R. (2006b) A new recurrent 9q34 duplication in pediatric T-cell acute lymphoblastic leukemia. Leukemia, 20, 1245 1253.
120. Wang, J.Y. (2000) Regulation of cell death by the Abl tyrosine kinase. Oncogene, 19, 5643 5650.
121. Wang, C.R., Hashimoto, K., Kubo, S., Yokochi, T., Kubo, M., Suzuki, M., Suzuki, K., Tada, T. Nakayama, T. (1995) T cell receptor-mediated signaling events in CD4+CD8+ thymocytes undergoing thymic selection: requirement of calcineurin activation for thymic positive selection but not negative selection. Journal of Experimental Medicine, 181, 927 941.
122. Wang, J., Jani-Sait, S.N., Escalon, E.A., Carroll, A.J., de Jong, P.J., Kirsch, I.R. Aplan, P.D. (2000a) The t(14;21)(q11.2;q22) chromosomal translocation associated with T-cell acute lymphoblastic leukemia activates the BHLHB1 gene. Proc Natl Acad Sci USA, 97, 3497 3502.
123. Wang, X., Gjorloff-Wingren, A., Saxena, M., Pathan, N., Reed, J.C. Mustelin, T. (2000b) The tumor suppressor PTEN regulates T cell survival and antigen receptor signaling by acting as a phosphatidylinositol 3-phosphatase. Journal of Immunology, 164, 1934 1939.
124. Wange, R.L. (2004) TCR signaling: another Abl-bodied kinase joins the cascade. Current Biology, 14, R562 R564.
125. Watt, P.M., Kumar, R. Kees, U.R. (2000) Promoter demethylation accompanies reactivation of the HOX11 proto-oncogene in leukemia. Genes Chromosomes and Cancer, 29, 371 377.
126. Weng, A.P., Ferrando, A.A., Lee, W., Morris, J.P.t., Silverman, L.B., Sanchez-Irizarry, C., Blacklow, S.C., Look, A.T. Aster, J.C. (2004) Activating mutations of NOTCH1 in human T cell acute lymphoblastic leukemia. Science, 306, 269 271.
127. Weng, A.P., Millholland, J.M., Yashiro-Ohtani, Y., Arcangeli, M.L., Lau, A., Wai, C., Del Bianco, C., Rodriguez, C.G., Sai, H., Tobias, J., Li, Y., Wolfe, M.S., Shachaf, C., Felsher, D., Blacklow, S.C., Pear, W.S. Aster, J.C.
128. Whang, Y.E., Tran, C., Henderson, C., Syljuasen, R.G., Rozengurt, N., McBride, W.H. Sawyers, C.L. (2000) c-Abl is required for development and optimal cell proliferation in the context of p53 deficiency. Proc Natl Acad Sci USA, 97, 5486 5491.
129. Wilson, A., MacDonald, H.R. Radtke, F. (2001) Notch 1-deficient common lymphoid precursors adopt a B cell fate in the thymus. Journal of Experimental Medicine, 194, 1003 1012.
130. Wuchter, C., Ruppert, V., Schrappe, M., Dorken, B., Ludwig, W.D. Karawajew, L. (2002) In vitro susceptibility to dexamethasone- and doxorubicin-induced apoptotic cell death in context of maturation stage, responsiveness to interleukin 7, and early cytoreduction in vivo in childhood T-cell acute lymphoblastic leukemia. Blood, 99, 4109 4115.
131. Xia, Y., Brown, L., Yang, C.Y., Tsan, J.T., Siciliano, M.J., Espinosa, III., R., Le Beau, M.M. Baer, R.J. (1991) TAL2, a helix-loop-helix gene activated by the (7;9)(q34;q32) translocation in human T-cell leukemia. Proc Natl Acad Sci USA, 88, 11416 11420.
132. Yan, W., Young, A.Z., Soares, V.C., Kelley, R., Benezra, R. Zhuang, Y. (1997) High incidence of T-cell tumors in E2A-null mice and E2A/Id1 double-knockout mice. Molecular and Cellular Biology, 17, 7317 7327.
133. Yokota, S., Nakao, M., Horiike, S., Seriu, T., Iwai, T., Kaneko, H., Azuma, H., Oka, T., Takeda, T., Watanabe, A., Kikuta, A., Asami, K., Sekine, I., Matsushita, T., Tsuhciya, T., Mimaya, J., Koizumi, S., Miyake, M., Nishikawa, K., Takaue, Y., Kawano, Y., Iwai, A., Ishida, Y., Matsumoto, K. Fujimoto, T. (1998) Mutational analysis of the N-ras gene in acute lymphoblastic leukemia: a study of 125 Japanese pediatric cases. International Journal of Hematology, 67, 379 387.
134. Zhang, W., Sloan-Lancaster, J., Kitchen, J., Trible, R.P. Samelson, L.E. (1998) LAT: the ZAP-70 tyrosine kinase substrate that links T cell receptor to cellular activation. Cell, 92, 83 92.
135. Zhu, Y.M., Zhao, W.L., Fu, J.F., Shi, J.Y., Pan, Q., Hu, J., Gao, X.D., Chen, B., Li, J.M., Xiong, S.M., Gu, L.J., Tang, J.Y., Liang, H., Jiang, H., Xue, Y.Q., Shen, Z.X., Chen, Z. Chen, S.J. (2006) NOTCH1 mutations in T-cell acute lymphoblastic leukemia: prognostic significance and implication in multifactorial leukemogenesis. Clinical Cancer Research, 12, 3043 3049.
136. Zipfel, P.A., Zhang, W., Quiroz, M. Pendergast, A.M. (2004) Requirement for Abl kinases in T cell receptor signaling. Current Biology, 14, 1222 1231.