Activating NOTCH1 mutations predict favorable early treatment response and long-term outcome in childhood precursor T-cell lymphoblastic leukemia

Blood

Volumn 108, Issue 4, 2006, Pages 1151-1157

  Breit, Stephen ^b   Stanulla, Martin ^b   Flohr, Thomas ^b   Schrappe, Martin ^b   Ludwig, Wolf Dieter ^b   Tolle, Gabriele ^b   Happich, Margit ^b   Muckenthaler, Martina U ^b   Kulozik, Andreas E ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMIC ACID; NOTCH1 RECEPTOR; PREDNISONE; PROLINE; SERINE; THREONINE;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ARTICLE; CANCER SURVIVAL; CARBOXY TERMINAL SEQUENCE; CHILD; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DIMERIZATION; DRUG RESPONSE; FEMALE; GENE ACTIVATION; GENE IDENTIFICATION; GENE MUTATION; HUMAN; IMMUNOPHENOTYPING; LEUKOCYTE COUNT; LONG TERM CARE; LYMPHATIC LEUKEMIA; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PROGNOSIS; PROTEIN DOMAIN; PROTEIN STRUCTURE; T LYMPHOCYTE; TREATMENT OUTCOME; TREATMENT RESPONSE; WILD TYPE;

EID: 33747155025     PISSN: 00064971     EISSN: 00064971     Source Type: Journal    
DOI: 10.1182/blood-2005-12-4956     Document Type: Article

References (50)

1. Pui CH, Schrappe M, Ribeiro RC, Niemeyer CM. Childhood and adolescent lymphoid and myeloid leukemia. Hematology (Am Soc Hematol Educ Program). 2004:118-145.
2. Herold R, von Stackelberg A, Hartmann R, Eisenreich B, Henze G. Acute lymphoblastic leukemia-relapse study of the Berlin-Frankfurt-Munster Group (ALL-REZ BFM) experience: early treatment intensity makes the difference. J Clin Oncol. 2004;22:569-570; author reply 570-561.
3. Schrappe M, Reiter A, Zimmermann M, et al. Long-term results of four consecutive trials in childhood ALL performed by the ALL-BFM study group from 1981 to 1995: Berlin-Frankfurt-Munster. Leukemia. 2000;14:2205-2222.
4. Yeoh EJ, Ross ME, Shurtleff SA, et al. Classification, subtype discovery, and prediction of outcome in pediatric acute lymphoblastic leukemia by gene expression profiling. Cancer Cell. 2002;1:133-143.
5. Pui CH, Relling MV, Downing JR. Acute lymphoblastic leukemia. N Engl J Med. 2004;350:1535-1548.
6. Chiaretti S, Li X, Gentleman R, et al. Gene expression profile of adult T-cell acute lymphocytic leukemia identifies distinct subsets of patients with different response to therapy and survival. Blood. 2004;103:2771-2778.
7. Ferrando AA, Neuberg DS, Staunton J, et al. Gene expression signatures define novel oncogenic pathways in T cell acute lymphoblastic leukemia. Cancer Cell. 2002;1:75-87.
8. Ferrando AA, Neuberg DS, Dodge RK, et al. Prognostic importance of TLX1 (HOX11) oncogene expression in adults with T-cell acute lymphoblastic leukaemia. Lancet. 2004;363:535-536.
9. Ellisen LW, Bird J, West DC, et al. TAN-1, the human homolog of the Drosophila notch gene, is broken by chromosomal translocations in T lymphoblastic neoplasms. Cell. 1991;66:649-661.
10. Radtke F, Wilson A, MacDonald HR. Notch signaling in T- and B-cell development. Curr Opin Immunol. 2004;16:174-179.
11. Radtke F, Wilson A, Mancini SJ, MacDonald HR. Notch regulation of lymphocyte development and function. Nat Immunol. 2004;5:247-253.
12. Wilson A, Ferrero I, MacDonald HR, Radtke F. Cutting edge: an essential role for Notch-1 in the development of both thymus-independent and -dependent T cells in the gut. J Immunol. 2000;165:5397-5400.
13. Logeat F, Bessia C, Brou C, et al. The Notch1 receptor is cleaved constitutively by a furin-like convertase. Proc Natl Acad Sci U S A. 1998;95:8108-8112.
14. Pear WS, Aster JC. T cell acute lymphoblastic leukemia/lymphoma: a human cancer commonly associated with aberrant NOTCH1 signaling. Curr Opin Hematol. 2004;11:426-433.
15. Sanchez-Irizarry C, Carpenter AC, Weng AP, et al. Notch subunit heterodimerization and prevention of ligand-independent proteolytic activation depend, respectively, on a novel domain and the LNR repeats. Mol Cell Biol. 2004;24:9265-9273.
16. Weng AP, Ferrando AA, Lee W, et al. Activating mutations of NOTCH1 in human T cell acute lymphoblastic leukemia. Science. 2004;306:269-271.
17. Rand MD, Grimm LM, Artavanis-Tsakonas S, et al. Calcium depletion dissociates and activates heterodimeric notch receptors. Mol Cell Biol. 2000;20:1825-1835.
18. Rebay I, Fehon RG, Artavanis-Tsakonas S. Specific truncations of Drosophila Notch define dominant activated and dominant negative forms of the receptor. Cell. 1993;74:319-329.
19. Tetzlaff MT, Yu W, Li M, et al. Defective cardiovascular development and elevated cyclin E and Notch proteins in mice lacking the Fbw7 F-box protein. Proc Natl Acad Sci U S A. 2004;101:3338-3345.
20. Tsunematsu R, Nakayama K, Oike Y, et al. Mouse Fbw7/Sel-10/Cdc4 is required for notch degradation during vascular development. J Biol Chem. 2004;279:9417-9423.
21. Stanulla M, Schaeffeler E, Flohr T, et al. Thiopurine methyltransferase (TPMT) genotype and early treatment response to mercaptopurine in childhood acute lymphoblastic leukemia. JAMA. 2005;293:1485-1489.
22. Bene MC, Castoldi G, Knapp W, et al. Proposals for the immunological classification of acute leukemias: European Group for the Immunological Characterization of Leukemias (EGIL). Leukemia. 1995;9:1783-1786.
23. Ludwig WD, Rieder H, Bartram CR, et al. Immunophenotypic and genotypic features, clinical characteristics, and treatment outcome of adult pro-B acute lymphoblastic leukemia: results of the German multicenter trials GMALL 03/87 and 04/89. Blood. 1998;92:1898-1909.
24. Schrappe M, Reiter A, Ludwig WD, et al. Improved outcome in childhood acute lymphoblastic leukemia despite reduced use of anthracyclines and cranial radiotherapy: results of trial ALL-BFM 90: German-Austrian-Swiss ALL-BFM Study Group. Blood. 2000;95:3310-3322.
25. Viehmann S, Borkhardt A, Lampert F, Harbott J. Multiplex PCR: a rapid screening method for detection of gene rearrangements in childhood acute lymphoblastic leukemia. Ann Hematol. 1999;78:157-162.
26. Dordelmann M, Reiter A, Borkhardt A, et al. Prednisone response is the strongest predictor of treatment outcome in infant acute lymphoblastic leukemia. Blood. 1999;94:1209-1217.
27. Hansen-Hagge TE, Yokota S, Bartram CR. Detection of minimal residual disease in acute lymphoblastic leukemia by in vitro amplification of rearranged T-cell receptor delta chain sequences. Blood. 1989;74:1762-1767.
28. van Dongen JJ, Seriu T, Panzer-Grumayer ER, et al. Prognostic value of minimal residual disease in acute lymphoblastic leukaemia in childhood. Lancet. 1998;352:1731-1738.
29. Willemse MJ, Seriu T, Hettinger K, et al. Detection of minimal residual disease identifies differences in treatment response between T-ALL and precursor B-ALL. Blood. 2002;99:4386-4393.
30. van der Velden VH, Hochhaus A, Cazzaniga G, et al. Detection of minimal residual disease in hematologic malignancies by real-time quantitative PCR: principles, approaches, and laboratory aspects. Leukemia. 2003;17:1013-1034.
31. Hentze MW, Kulozik AE. A perfect message: RNA surveillance and nonsense-mediated decay. Cell. 1999;96:307-310.
32. Holbrook JA, Neu-Yilik G, Hentze MW, Kulozik AE. Nonsense-mediated decay approaches the clinic. Nat Genet. 2004;36:801-808.
33. Maquat LE. Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat Rev Mol Cell Biol. 2004;5:89-99.
34. Pullen J, Shuster JJ, Link M, et al. Significance of commonly used prognostic factors differs for children with T cell acute lymphocytic leukemia (ALL), as compared to those with B-precursor ALL: a Pediatric Oncology Group (POG) study. Leukemia. 1999;13:1696-1707.
35. Breit S, Nees M, Schaefer U, et al. Impact of pre-analytical handling on bone marrow mRNA gene expression. Br J Haematol. 2004;126:231-243.
36. Cario G, Stanulla M, Fine BM, et al. Distinct gene expression profiles determine molecular treatment response in childhood acute lymphoblastic leukemia. Blood. 2005;105:821-826.
37. Ludwig WD, Harbott J, Bartram CR, et al. Incidence and prognostic significance of immunophenotypic subgroups in childhood acute lymphoblastic leukemia: experience of the BFM study 86. Recent Results Cancer Res. 1993;131:269-282.
38. Niehues T, Kapaun P, Harms DO, et al. A classification based on T cell selection-related phenotypes identifies a subgroup of childhood T-ALL with favorable outcome in the COALL studies. Leukemia. 1999;13:614-617.
39. Wuchter C, Ruppert V, Schrappe M, et al. 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. 2002;99:4109-4115.
40. Schweisguth F. Notch signaling activity. Curr Biol. 2004;14:R129-R138.
41. Fortini ME. Gamma-secretase-mediated proteolysis in cell-surface-receptor signalling. Nat Rev Mol Cell Biol. 2002;3:673-684.
42. Fryer CJ, Lamar E, Turbachova I, Kintner C, Jones KA. Mastermind mediates chromatin-specific transcription and turnover of the Notch enhancer complex. Genes Dev. 2002;16:1397-1411.
43. Hadland BK, Huppert SS, Kanungo J, et al. A requirement for Notch1 distinguishes 2 phases of definitive hematopoiesis during development. Blood. 2004;104:3097-3105.
44. Maillard I, Weng AP, Carpenter AC, et al. Mastermind critically regulates Notch-mediated lymphoid cell fate decisions. Blood. 2004;104:1696-1702.
45. Aster JC, Xu L, Karnell FG, et al. Essential roles for ankyrin repeat and transactivation domains in induction of T-cell leukemia by notch1. Mol Cell Biol. 2000;20:7505-7515.
46. Pear WS, Aster JC, Scott ML, et al. Exclusive development of T cell neoplasms in mice transplanted with bone marrow expressing activated Notch alleles. J Exp Med. 1996;183:2283-2291.
47. Zweidler-McKay PA, Pear WS. Notch and T cell malignancy. Semin Cancer Biol. 2004;14:329-340.
48. Rogers S, Wells R, Rechsteiner M. Amino acid sequences common to rapidly degraded proteins: the PEST hypothesis. Science. 1986;234:364-368.
49. Pui JC, Allman D, Xu L, et al. Notch1 expression in early lymphopoiesis influences B versus T lineage determination. Immunity. 1999;11:299-308.
50. Holowiecki J. NOTCH1 pathway: a molecular target in T-cell cancers? Lancet. 2005;365:197-199.